psui3905/ncbi_genes_summary huggingface dataset:
DDX23, Official Symbol DDX23provided by HGNC Official Full Name DEAD-box helicase 23provided by HGNC Primary source HGNC:HGNC:17347 See related Ensembl:ENSG00000174243 MIM:612172; AllianceGenome:HGNC:17347 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as prp28; PRPF28; U5-100K; SNRNP100; U5-100KD Summary This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 26.9), appendix (RPKM 25.8) and 25 other tissues See more Orthologs mouse all
DDX24, Official Symbol DDX24provided by HGNC Official Full Name DEAD-box helicase 24provided by HGNC Primary source HGNC:HGNC:13266 See related Ensembl:ENSG00000089737 MIM:606181; AllianceGenome:HGNC:13266 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 90.5), adrenal (RPKM 75.8) and 25 other tissues See more Orthologs mouse all
DDX25, Official Symbol DDX25provided by HGNC Official Full Name DEAD-box helicase 25provided by HGNC Primary source HGNC:HGNC:18698 See related Ensembl:ENSG00000109832 MIM:607663; AllianceGenome:HGNC:18698 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GRTH Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 40.9) See more Orthologs mouse all
DDX27, Official Symbol DDX27provided by HGNC Official Full Name DEAD-box helicase 27provided by HGNC Primary source HGNC:HGNC:15837 See related Ensembl:ENSG00000124228 MIM:616621; AllianceGenome:HGNC:15837 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DRS1; RHLP; Drs1p; PP3241; HSPC259; dJ686N3.1 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 18.7), lymph node (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
DDX28, Official Symbol DDX28provided by HGNC Official Full Name DEAD-box helicase 28provided by HGNC Primary source HGNC:HGNC:17330 See related Ensembl:ENSG00000182810 MIM:607618; AllianceGenome:HGNC:17330 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDDX28 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008] Orthologs mouse all
DDX39A, Official Symbol DDX39Aprovided by HGNC Official Full Name DExD-box helicase 39Aprovided by HGNC Primary source HGNC:HGNC:17821 See related Ensembl:ENSG00000123136 MIM:619906; AllianceGenome:HGNC:17821 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAT1; DDXL; BAT1L; DDX39; URH49 Summary This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Expression Broad expression in testis (RPKM 59.3), bone marrow (RPKM 58.2) and 24 other tissues See more Orthologs mouse all
DDX39AP1, Official Symbol DDX39AP1provided by HGNC Official Full Name DEAD-box helicase 39A pseudogene 1provided by HGNC Primary source HGNC:HGNC:39664 See related AllianceGenome:HGNC:39664 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX39B, Official Symbol DDX39Bprovided by HGNC Official Full Name DExD-box helicase 39Bprovided by HGNC Primary source HGNC:HGNC:13917 See related Ensembl:ENSG00000198563 MIM:142560; AllianceGenome:HGNC:13917 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAT1; UAP56; D6S81E Summary This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in endometrium (RPKM 76.9), ovary (RPKM 76.7) and 25 other tissues See more Orthologs mouse all
DDX39B-AS1, Official Symbol DDX39B-AS1provided by HGNC Official Full Name DDX39B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39771 See related Ensembl:ENSG00000234006 AllianceGenome:HGNC:39771 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DDX39BP2, Official Symbol DDX39BP2provided by HGNC Official Full Name DEAD-box helicase 39B pseudogene 2provided by HGNC Primary source HGNC:HGNC:33461 See related AllianceGenome:HGNC:33461 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BAT1P2; BPG309N1.15
DDX3P2, Official Symbol DDX3P2provided by HGNC Official Full Name DEAD-box helicase 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42172 See related Ensembl:ENSG00000230986 AllianceGenome:HGNC:42172 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DDX3YP2
DDX3X, Official Symbol DDX3Xprovided by HGNC Official Full Name DEAD-box helicase 3 X-linkedprovided by HGNC Primary source HGNC:HGNC:2745 See related Ensembl:ENSG00000215301 MIM:300160; AllianceGenome:HGNC:2745 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DBX; DDX3; HLP2; DDX14; CAP-Rf; MRX102; MRXSSB Summary The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in bone marrow (RPKM 90.6), gall bladder (RPKM 60.1) and 25 other tissues See more Orthologs mouse all
DDX3Y, Official Symbol DDX3Yprovided by HGNC Official Full Name DEAD-box helicase 3 Y-linkedprovided by HGNC Primary source HGNC:HGNC:2699 See related Ensembl:ENSG00000067048 MIM:400010; AllianceGenome:HGNC:2699 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DBY Summary The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Expression Broad expression in bone marrow (RPKM 32.5), testis (RPKM 29.4) and 19 other tissues See more Orthologs all
DDX4, Official Symbol DDX4provided by HGNC Official Full Name DEAD-box helicase 4provided by HGNC Primary source HGNC:HGNC:18700 See related Ensembl:ENSG00000152670 MIM:605281; AllianceGenome:HGNC:18700 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VASA Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Restricted expression toward testis (RPKM 81.5) See more Orthologs mouse all
DDX41, Official Symbol DDX41provided by HGNC Official Full Name DEAD-box helicase 41provided by HGNC Primary source HGNC:HGNC:18674 See related Ensembl:ENSG00000183258 MIM:608170; AllianceGenome:HGNC:18674 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ABS; MPLPF Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
DDX42, Official Symbol DDX42provided by HGNC Official Full Name DEAD-box helicase 42provided by HGNC Primary source HGNC:HGNC:18676 See related Ensembl:ENSG00000198231 MIM:613369; AllianceGenome:HGNC:18676 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RHELP; RNAHP; SF3B8; DDX42P; SF3b125 Summary This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 27.4), ovary (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
DDX43, Official Symbol DDX43provided by HGNC Official Full Name DEAD-box helicase 43provided by HGNC Primary source HGNC:HGNC:18677 See related Ensembl:ENSG00000080007 MIM:606286; AllianceGenome:HGNC:18677 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT13; HAGE Summary The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 12.4), placenta (RPKM 1.9) and 3 other tissues See more Orthologs mouse all
DDX43P2, Official Symbol DDX43P2provided by HGNC Official Full Name DEAD-box helicase 43 pseudogene 2provided by HGNC Primary source HGNC:HGNC:50781 See related Ensembl:ENSG00000270763 AllianceGenome:HGNC:50781 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX43P3, Official Symbol DDX43P3provided by HGNC Official Full Name DEAD-box helicase 43 pseudogene 3provided by HGNC Primary source HGNC:HGNC:50782 See related Ensembl:ENSG00000230196 AllianceGenome:HGNC:50782 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX46, Official Symbol DDX46provided by HGNC Official Full Name DEAD-box helicase 46provided by HGNC Primary source HGNC:HGNC:18681 See related Ensembl:ENSG00000145833 MIM:617848; AllianceGenome:HGNC:18681 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Prp5; PRPF5 Summary This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in appendix (RPKM 11.5), lymph node (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
DDX47, Official Symbol DDX47provided by HGNC Official Full Name DEAD-box helicase 47provided by HGNC Primary source HGNC:HGNC:18682 See related Ensembl:ENSG00000213782 MIM:615428; AllianceGenome:HGNC:18682 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RRP3; E4-DBP; HQ0256; MSTP162 Summary This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 25.1), lymph node (RPKM 21.1) and 25 other tissues See more Orthologs mouse all
DDX49, Official Symbol DDX49provided by HGNC Official Full Name DEAD-box helicase 49provided by HGNC Primary source HGNC:HGNC:18684 See related Ensembl:ENSG00000105671 AllianceGenome:HGNC:18684 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Dbp8; R27090_2 Summary Enables RNA binding activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.3), bone marrow (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
DDX5, Official Symbol DDX5provided by HGNC Official Full Name DEAD-box helicase 5provided by HGNC Primary source HGNC:HGNC:2746 See related Ensembl:ENSG00000108654 MIM:180630; AllianceGenome:HGNC:2746 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p68; HLR1; G17P1; HUMP68 Summary This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017] Expression Ubiquitous expression in bone marrow (RPKM 190.1), lymph node (RPKM 152.4) and 25 other tissues See more Orthologs mouse all
DDX50, Official Symbol DDX50provided by HGNC Official Full Name DExD-box helicase 50provided by HGNC Primary source HGNC:HGNC:17906 See related Ensembl:ENSG00000107625 MIM:610373; AllianceGenome:HGNC:17906 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GU2; GUB; mcdrh; RH-II/GuB Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 10.4), thyroid (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
DDX51, Official Symbol DDX51provided by HGNC Official Full Name DEAD-box helicase 51provided by HGNC Primary source HGNC:HGNC:20082 See related Ensembl:ENSG00000185163 AllianceGenome:HGNC:20082 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 5.1), ovary (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
DDX52, Official Symbol DDX52provided by HGNC Official Full Name DExD-box helicase 52provided by HGNC Primary source HGNC:HGNC:20038 See related Ensembl:ENSG00000278053 MIM:612500; AllianceGenome:HGNC:20038 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ROK1; HUSSY19 Summary Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.2), endometrium (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
DDX53, Official Symbol DDX53provided by HGNC Official Full Name DEAD-box helicase 53provided by HGNC Primary source HGNC:HGNC:20083 See related Ensembl:ENSG00000184735 MIM:301079; AllianceGenome:HGNC:20083 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAGE; CT26 Summary This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011] Orthologs all
DDX54, Official Symbol DDX54provided by HGNC Official Full Name DEAD-box helicase 54provided by HGNC Primary source HGNC:HGNC:20084 See related Ensembl:ENSG00000123064 MIM:611665; AllianceGenome:HGNC:20084 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DP97 Summary This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 11.3), spleen (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
DDX55, Official Symbol DDX55provided by HGNC Official Full Name DEAD-box helicase 55provided by HGNC Primary source HGNC:HGNC:20085 See related Ensembl:ENSG00000111364 MIM:620176; AllianceGenome:HGNC:20085 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in lymph node (RPKM 4.3), bone marrow (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
DDX55P1, Official Symbol DDX55P1provided by HGNC Official Full Name DEAD-box helicase 55 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49852 See related Ensembl:ENSG00000270863 AllianceGenome:HGNC:49852 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX56, Official Symbol DDX56provided by HGNC Official Full Name DEAD-box helicase 56provided by HGNC Primary source HGNC:HGNC:18193 See related Ensembl:ENSG00000136271 MIM:608023; AllianceGenome:HGNC:18193 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DDX21; DDX26; NOH61 Summary This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in thyroid (RPKM 15.8), lymph node (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
DDX59, Official Symbol DDX59provided by HGNC Official Full Name DEAD-box helicase 59provided by HGNC Primary source HGNC:HGNC:25360 See related Ensembl:ENSG00000118197 MIM:615464; AllianceGenome:HGNC:25360 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OFD5; ZNHIT5 Summary Predicted to enable RNA binding activity and RNA helicase activity. Predicted to be located in cytoplasm and nucleus. Predicted to be integral component of membrane. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 2.6), thyroid (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
DDX59-AS1, Official Symbol DDX59-AS1provided by HGNC Official Full Name DDX59 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41094 See related Ensembl:ENSG00000260088 AllianceGenome:HGNC:41094 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DDX6, Official Symbol DDX6provided by HGNC Official Full Name DEAD-box helicase 6provided by HGNC Primary source HGNC:HGNC:2747 See related Ensembl:ENSG00000110367 MIM:600326; AllianceGenome:HGNC:2747 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P54; RCK; HLR2; IDDILF; Rck/p54 Summary This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in brain (RPKM 27.6), lymph node (RPKM 26.5) and 25 other tissues See more Orthologs mouse all
DDX60, Official Symbol DDX60provided by HGNC Official Full Name DExD/H-box helicase 60provided by HGNC Primary source HGNC:HGNC:25942 See related Ensembl:ENSG00000137628 MIM:613974; AllianceGenome:HGNC:25942 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in stomach (RPKM 14.0), colon (RPKM 7.7) and 24 other tissues See more Orthologs all
DDX60L, Official Symbol DDX60Lprovided by HGNC Official Full Name DExD/H-box 60 likeprovided by HGNC Primary source HGNC:HGNC:26429 See related Ensembl:ENSG00000181381 MIM:616725; AllianceGenome:HGNC:26429 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in appendix (RPKM 7.8), bone marrow (RPKM 6.5) and 24 other tissues See more Orthologs all
DDX6P2, Official Symbol DDX6P2provided by HGNC Official Full Name DEAD-box helicase 6 pseudogene 2provided by HGNC Primary source HGNC:HGNC:37806 See related AllianceGenome:HGNC:37806 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DEAF1, Official Symbol DEAF1provided by HGNC Official Full Name DEAF1 transcription factorprovided by HGNC Primary source HGNC:HGNC:14677 See related Ensembl:ENSG00000177030 MIM:602635; AllianceGenome:HGNC:14677 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPN; NUDR; VSVS; MRD24; ZMYND5; NEDHELS Summary This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
DECR1, Official Symbol DECR1provided by HGNC Official Full Name 2,4-dienoyl-CoA reductase 1provided by HGNC Primary source HGNC:HGNC:2753 See related Ensembl:ENSG00000104325 MIM:222745; AllianceGenome:HGNC:2753 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DECR; NADPH; SDR18C1 Summary Enables 2,4-dienoyl-CoA reductase (NADPH) activity; NADPH binding activity; and identical protein binding activity. Involved in fatty acid beta-oxidation. Located in cytosol; mitochondrion; and nucleoplasm. Part of catalytic complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 86.6), fat (RPKM 60.8) and 25 other tissues See more Orthologs mouse all
DECR2, Official Symbol DECR2provided by HGNC Official Full Name 2,4-dienoyl-CoA reductase 2provided by HGNC Primary source HGNC:HGNC:2754 See related Ensembl:ENSG00000242612 MIM:615839; AllianceGenome:HGNC:2754 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDCR; SDR17C1 Summary Enables 2,4-dienoyl-CoA reductase (NADPH) activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in unsaturated fatty acid biosynthetic process. Predicted to be located in peroxisome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 18.7), liver (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
DEDD, Official Symbol DEDDprovided by HGNC Official Full Name death effector domain containingprovided by HGNC Primary source HGNC:HGNC:2755 See related Ensembl:ENSG00000158796 MIM:606841; AllianceGenome:HGNC:2755 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFT; KE05; DEDD1; FLDED1; DEDPro1; FLDED-1; CASP8IP1 Summary This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.8), placenta (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
DEDD2, Official Symbol DEDD2provided by HGNC Official Full Name death effector domain containing 2provided by HGNC Primary source HGNC:HGNC:24450 See related Ensembl:ENSG00000160570 MIM:617078; AllianceGenome:HGNC:24450 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLAME3; FLAME-3 Summary This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in bone marrow (RPKM 24.8), spleen (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
DEF6, Official Symbol DEF6provided by HGNC Official Full Name DEF6 guanine nucleotide exchange factorprovided by HGNC Primary source HGNC:HGNC:2760 See related Ensembl:ENSG00000023892 MIM:610094; AllianceGenome:HGNC:2760 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IBP; SLAT; IMD87; SWAP70L Summary DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008] Expression Broad expression in lymph node (RPKM 23.3), bone marrow (RPKM 22.5) and 21 other tissues See more Orthologs mouse all
DEF8, Official Symbol DEF8provided by HGNC Official Full Name differentially expressed in FDCP 8 homologprovided by HGNC Primary source HGNC:HGNC:25969 See related Ensembl:ENSG00000140995 AllianceGenome:HGNC:25969 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable metal ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 14.4), appendix (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
DEFA1, Official Symbol DEFA1provided by HGNC Official Full Name defensin alpha 1provided by HGNC Primary source HGNC:HGNC:2761 See related Ensembl:ENSG00000206047 MIM:125220; AllianceGenome:HGNC:2761 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HP1; MRS; DEF1; HP-1; DEFA2; HNP-1 Summary Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014] Expression Restricted expression toward bone marrow (RPKM 27404.8) See more Orthologs all
DEFA10P, Official Symbol DEFA10Pprovided by HGNC Official Full Name defensin alpha 10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31801 See related AllianceGenome:HGNC:31801 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DEFA1B, Official Symbol DEFA1Bprovided by HGNC Official Full Name defensin alpha 1Bprovided by HGNC Primary source HGNC:HGNC:33596 See related Ensembl:ENSG00000240247 AllianceGenome:HGNC:33596 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HP1; HP-1; HNP-1 Summary Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] Expression Restricted expression toward bone marrow (RPKM 28740.8) See more Orthologs all