psui3905/ncbi_genes_summary huggingface dataset:
DNAH7, Official Symbol DNAH7provided by HGNC Official Full Name dynein axonemal heavy chain 7provided by HGNC Primary source HGNC:HGNC:18661 See related Ensembl:ENSG00000118997 MIM:610061; AllianceGenome:HGNC:18661 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 CILD50 Summary DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 2.6), thyroid (RPKM 0.9) and 7 other tissues See more Orthologs all
DNAH8, Official Symbol DNAH8provided by HGNC Official Full Name dynein axonemal heavy chain 8provided by HGNC Primary source HGNC:HGNC:2952 See related Ensembl:ENSG00000124721 MIM:603337; AllianceGenome:HGNC:2952 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 hdhc9; ATPase; SPGF46 Summary The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012] Expression Biased expression in testis (RPKM 4.6), prostate (RPKM 0.5) and 2 other tissues See more Orthologs mouse all
DNAH9, Official Symbol DNAH9provided by HGNC Official Full Name dynein axonemal heavy chain 9provided by HGNC Primary source HGNC:HGNC:2953 See related Ensembl:ENSG00000007174 MIM:603330; AllianceGenome:HGNC:2953 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 DYH9; HL20; DNEL1; HL-20; CILD40; Dnahc9; DNAH17L Summary This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1.3), lung (RPKM 1.0) and 6 other tissues See more Orthologs mouse all
DNAI1, Official Symbol DNAI1provided by HGNC Official Full Name dynein axonemal intermediate chain 1provided by HGNC Primary source HGNC:HGNC:2954 See related Ensembl:ENSG00000122735 MIM:604366; AllianceGenome:HGNC:2954 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 PCD; DIC1; ICS1; CILD1 Summary This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Restricted expression toward testis (RPKM 7.9) See more Orthologs mouse all
DNAI2, Official Symbol DNAI2provided by HGNC Official Full Name dynein axonemal intermediate chain 2provided by HGNC Primary source HGNC:HGNC:18744 See related Ensembl:ENSG00000171595 MIM:605483; AllianceGenome:HGNC:18744 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 DIC2; CILD9 Summary The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] Expression Restricted expression toward testis (RPKM 10.6) See more Orthologs mouse all
DNAI3, Official Symbol DNAI3provided by HGNC Official Full Name dynein axonemal intermediate chain 3provided by HGNC Primary source HGNC:HGNC:30711 See related Ensembl:ENSG00000162643 MIM:617968; AllianceGenome:HGNC:30711 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 DIC3; WDR63; NYD-SP29 Summary Enables Arp2/3 complex binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation and negative regulation of cell migration. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 10.4), adrenal (RPKM 9.4) and 2 other tissues See more Orthologs mouse all
DNAI4, Official Symbol DNAI4provided by HGNC Official Full Name dynein axonemal intermediate chain 4provided by HGNC Primary source HGNC:HGNC:26252 See related Ensembl:ENSG00000152763 MIM:619156; AllianceGenome:HGNC:26252 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 DIC4; WDR78 Summary Predicted to enable dynein heavy chain binding activity and dynein light chain binding activity. Predicted to be involved in axonemal dynein complex assembly and cilium movement. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in axoneme; dynein axonemal particle; and motile cilium. Predicted to be part of axonemal dynein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 11.4), thyroid (RPKM 2.6) and 9 other tissues See more Orthologs mouse all
DNAJA1, Official Symbol DNAJA1provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A1provided by HGNC Primary source HGNC:HGNC:5229 See related Ensembl:ENSG00000086061 MIM:602837; AllianceGenome:HGNC:5229 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 DJ-2; DjA1; HDJ2; HSDJ; HSJ2; HSJ-2; HSPF4; NEDD7; hDJ-2 Summary This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in testis (RPKM 94.7), brain (RPKM 86.5) and 25 other tissues See more Orthologs mouse all
DNAJA1P1, Official Symbol DNAJA1P1provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39337 See related Ensembl:ENSG00000223717 AllianceGenome:HGNC:39337 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJA1P2, Official Symbol DNAJA1P2provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39338 See related Ensembl:ENSG00000236917 AllianceGenome:HGNC:39338 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJA1P4, Official Symbol DNAJA1P4provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39340 See related Ensembl:ENSG00000218089 AllianceGenome:HGNC:39340 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJA2, Official Symbol DNAJA2provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A2provided by HGNC Primary source HGNC:HGNC:14884 See related Ensembl:ENSG00000069345 MIM:611322; AllianceGenome:HGNC:14884 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 DJ3; CPR3; DJA2; DNAJ; DNJ3; RDJ2; HIRIP4; PRO3015 Summary The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 26.8), heart (RPKM 23.4) and 25 other tissues See more Orthologs mouse all
DNAJA2-DT, Official Symbol DNAJA2-DTprovided by HGNC Official Full Name DNAJA2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55375 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
DNAJA3, Official Symbol DNAJA3provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A3provided by HGNC Primary source HGNC:HGNC:11808 See related Ensembl:ENSG00000103423 MIM:608382; AllianceGenome:HGNC:11808 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 TID1; HCA57; Tid1-L; Tid1-S; hTID-1 Summary This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in adrenal (RPKM 19.3), kidney (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
DNAJA4, Official Symbol DNAJA4provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member A4provided by HGNC Primary source HGNC:HGNC:14885 See related Ensembl:ENSG00000140403 AllianceGenome:HGNC:14885 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 MST104; MSTP104; PRO1472 Summary Enables chaperone binding activity and unfolded protein binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of inclusion body assembly; and protein refolding. Located in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 43.9), testis (RPKM 33.4) and 23 other tissues See more Orthologs mouse all
DNAJB1, Official Symbol DNAJB1provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B1provided by HGNC Primary source HGNC:HGNC:5270 See related Ensembl:ENSG00000132002 MIM:604572; AllianceGenome:HGNC:5270 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 Hdj1; Sis1; HSPF1; Hsp40; RSPH16B Summary This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in esophagus (RPKM 87.8), adrenal (RPKM 84.6) and 24 other tissues See more Orthologs mouse all
DNAJB11, Official Symbol DNAJB11provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B11provided by HGNC Primary source HGNC:HGNC:14889 See related Ensembl:ENSG00000090520 MIM:611341; AllianceGenome:HGNC:14889 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 DJ9; EDJ; Dj-9; ERj3; PKD6; ABBP2; ERdj3; ERj3p; ABBP-2; UNQ537; PRO1080 Summary This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in thyroid (RPKM 37.3), appendix (RPKM 33.9) and 25 other tissues See more Orthologs mouse all
DNAJB12, Official Symbol DNAJB12provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B12provided by HGNC Primary source HGNC:HGNC:14891 See related Ensembl:ENSG00000148719 MIM:608376; AllianceGenome:HGNC:14891 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 DJ10 Summary DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
DNAJB13, Official Symbol DNAJB13provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B13provided by HGNC Primary source HGNC:HGNC:30718 See related Ensembl:ENSG00000187726 MIM:610263; AllianceGenome:HGNC:30718 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 CILD34; TSARG5; TSARG6; RSPH16A Summary This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017] Expression Biased expression in testis (RPKM 1.9), lung (RPKM 0.6) and 7 other tissues See more Orthologs mouse all
DNAJB14, Official Symbol DNAJB14provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B14provided by HGNC Primary source HGNC:HGNC:25881 See related Ensembl:ENSG00000164031 MIM:617487; AllianceGenome:HGNC:25881 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 EGNR9427; PRO34683 Summary Enables Hsp70 protein binding activity. Involved in cellular protein-containing complex assembly and chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
DNAJB2, Official Symbol DNAJB2provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B2provided by HGNC Primary source HGNC:HGNC:5228 See related Ensembl:ENSG00000135924 MIM:604139; AllianceGenome:HGNC:5228 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 HSJ1; CMT2T; DSMA5; HSJ-1; HSPF3 Summary This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] Expression Ubiquitous expression in brain (RPKM 54.3), testis (RPKM 27.3) and 25 other tissues See more Orthologs mouse all
DNAJB3, Official Symbol DNAJB3provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B3provided by HGNC Primary source HGNC:HGNC:32397 See related Ensembl:ENSG00000227802 AllianceGenome:HGNC:32397 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCG3 Summary Predicted to be located in acrosomal vesicle and centrosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
DNAJB4, Official Symbol DNAJB4provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B4provided by HGNC Primary source HGNC:HGNC:14886 See related Ensembl:ENSG00000162616 MIM:611327; AllianceGenome:HGNC:14886 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 DjB4; HLJ1; DNAJW; CMYP21 Summary The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in adrenal (RPKM 27.3), thyroid (RPKM 23.6) and 25 other tissues See more Orthologs mouse all
DNAJB5, Official Symbol DNAJB5provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B5provided by HGNC Primary source HGNC:HGNC:14887 See related Ensembl:ENSG00000137094 MIM:611328; AllianceGenome:HGNC:14887 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 Hsc40 Summary This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017] Expression Broad expression in heart (RPKM 17.5), brain (RPKM 13.1) and 21 other tissues See more Orthologs mouse all
DNAJB5-DT, Official Symbol DNAJB5-DTprovided by HGNC Official Full Name DNAJB5 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:49846 See related Ensembl:ENSG00000281491 AllianceGenome:HGNC:49846 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNAJB5-AS1 Expression Low expression observed in reference dataset See more
DNAJB6, Official Symbol DNAJB6provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B6provided by HGNC Primary source HGNC:HGNC:14888 See related Ensembl:ENSG00000105993 MIM:611332; AllianceGenome:HGNC:14888 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 DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1D; LGMD1E; LGMDD1 Summary This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] Annotation information Note: We recognize that OMIM uses LGMD1E to refer to the locus on chromosome 7. There are many citations, however, including PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as the locus on chromosome 7. We are retaining the usage of the HUGO Gene Nomenclature Committee (HGNC). [25 Nov 2014] Expression Ubiquitous expression in testis (RPKM 36.6), bone marrow (RPKM 32.4) and 25 other tissues See more Orthologs mouse all
DNAJB6P1, Official Symbol DNAJB6P1provided by HGNC Official Full Name DNAJB6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54754 See related Ensembl:ENSG00000254612 AllianceGenome:HGNC:54754 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB6P3, Official Symbol DNAJB6P3provided by HGNC Official Full Name DNAJB6 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54756 See related AllianceGenome:HGNC:54756 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB6P4, Official Symbol DNAJB6P4provided by HGNC Official Full Name DNAJB6 pseudogene 4provided by HGNC Primary source HGNC:HGNC:54757 See related Ensembl:ENSG00000228523 AllianceGenome:HGNC:54757 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB6P5, Official Symbol DNAJB6P5provided by HGNC Official Full Name DNAJB6 pseudogene 5provided by HGNC Primary source HGNC:HGNC:54758 See related Ensembl:ENSG00000256441 AllianceGenome:HGNC:54758 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB6P6, Official Symbol DNAJB6P6provided by HGNC Official Full Name DNAJB6 pseudogene 6provided by HGNC Primary source HGNC:HGNC:54759 See related Ensembl:ENSG00000234247 AllianceGenome:HGNC:54759 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB6P7, Official Symbol DNAJB6P7provided by HGNC Official Full Name DNAJB6 pseudogene 7provided by HGNC Primary source HGNC:HGNC:54760 See related Ensembl:ENSG00000243508 AllianceGenome:HGNC:54760 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB6P8, Official Symbol DNAJB6P8provided by HGNC Official Full Name DNAJB6 pseudogene 8provided by HGNC Primary source HGNC:HGNC:54761 See related Ensembl:ENSG00000264529 AllianceGenome:HGNC:54761 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJB7, Official Symbol DNAJB7provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B7provided by HGNC Primary source HGNC:HGNC:24986 See related Ensembl:ENSG00000172404 MIM:611336; AllianceGenome:HGNC:24986 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 DJ5; HSC3 Summary The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011] Orthologs mouse all
DNAJB8, Official Symbol DNAJB8provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B8provided by HGNC Primary source HGNC:HGNC:23699 See related Ensembl:ENSG00000179407 MIM:611337; AllianceGenome:HGNC:23699 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 DJ6; CT156 Summary The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012] Expression Restricted expression toward testis (RPKM 16.6) See more Orthologs mouse all
DNAJB8-AS1, Official Symbol DNAJB8-AS1provided by HGNC Official Full Name DNAJB8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41029 See related Ensembl:ENSG00000242049 AllianceGenome:HGNC:41029 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 Restricted expression toward testis (RPKM 14.3) See more
DNAJB9, Official Symbol DNAJB9provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member B9provided by HGNC Primary source HGNC:HGNC:6968 See related Ensembl:ENSG00000128590 MIM:602634; AllianceGenome:HGNC:6968 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 MDG1; ERdj4; MDG-1; MST049; MSTP049 Summary This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in thyroid (RPKM 55.6), adrenal (RPKM 35.9) and 25 other tissues See more Orthologs mouse all
DNAJC1, Official Symbol DNAJC1provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C1provided by HGNC Primary source HGNC:HGNC:20090 See related Ensembl:ENSG00000136770 MIM:611207; AllianceGenome:HGNC:20090 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 HTJ1; MTJ1; ERdj1; DNAJL1 Summary The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
DNAJC10, Official Symbol DNAJC10provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C10provided by HGNC Primary source HGNC:HGNC:24637 See related Ensembl:ENSG00000077232 MIM:607987; AllianceGenome:HGNC:24637 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 JPDI; MTHr; ERdj5; PDIA19 Summary This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in endometrium (RPKM 35.6), thyroid (RPKM 29.7) and 25 other tissues See more Orthologs mouse all
DNAJC11, Official Symbol DNAJC11provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C11provided by HGNC Primary source HGNC:HGNC:25570 See related Ensembl:ENSG00000007923 MIM:614827; AllianceGenome:HGNC:25570 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 dJ126A5.1 Summary Involved in cristae formation. Located in mitochondrial outer membrane and nuclear speck. Part of MIB complex. Colocalizes with MICOS complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 23.0), colon (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
DNAJC12, Official Symbol DNAJC12provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C12provided by HGNC Primary source HGNC:HGNC:28908 See related Ensembl:ENSG00000108176 MIM:606060; AllianceGenome:HGNC:28908 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 JDP1; HPANBH4 Summary This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 18.5), liver (RPKM 12.0) and 15 other tissues See more Orthologs mouse all
DNAJC13, Official Symbol DNAJC13provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C13provided by HGNC Primary source HGNC:HGNC:30343 See related Ensembl:ENSG00000138246 MIM:614334; AllianceGenome:HGNC:30343 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 RME8; PARK21 Summary This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in thyroid (RPKM 12.4), endometrium (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
DNAJC14, Official Symbol DNAJC14provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C14provided by HGNC Primary source HGNC:HGNC:24581 See related Ensembl:ENSG00000135392 MIM:606092; AllianceGenome:HGNC:24581 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 DNAJ; HDJ3; LIP6; DRIP78 Summary Predicted to be involved in protein transport. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.8), thyroid (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
DNAJC15, Official Symbol DNAJC15provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C15provided by HGNC Primary source HGNC:HGNC:20325 See related Ensembl:ENSG00000120675 MIM:615339; AllianceGenome:HGNC:20325 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 MCJ; HSD18; DNAJD1 Summary Predicted to enable ATPase activator activity. Predicted to be involved in protein import into mitochondrial matrix. Predicted to act upstream of or within several processes, including cellular response to starvation; negative regulation of mitochondrial electron transport, NADH to ubiquinone; and negative regulation of protein-containing complex assembly. Predicted to be located in mitochondrial inner membrane. Predicted to be part of PAM complex, Tim23 associated import motor. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 13.6), small intestine (RPKM 12.6) and 24 other tissues See more Orthologs mouse all
DNAJC16, Official Symbol DNAJC16provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C16provided by HGNC Primary source HGNC:HGNC:29157 See related Ensembl:ENSG00000116138 MIM:619973; AllianceGenome:HGNC:29157 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 ERdj8 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 7.4), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
DNAJC17, Official Symbol DNAJC17provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C17provided by HGNC Primary source HGNC:HGNC:25556 See related Ensembl:ENSG00000104129 MIM:616844; AllianceGenome:HGNC:25556 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 RNA binding activity. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II and toxin transport. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in small intestine (RPKM 6.2), liver (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
DNAJC18, Official Symbol DNAJC18provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C18provided by HGNC Primary source HGNC:HGNC:28429 See related Ensembl:ENSG00000170464 AllianceGenome:HGNC:28429 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 Hsp70 protein binding activity. Predicted to be involved in cellular response to misfolded protein; chaperone cofactor-dependent protein refolding; and ubiquitin-dependent ERAD pathway. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 11.6), testis (RPKM 9.5) and 21 other tissues See more Orthologs mouse all
DNAJC19, Official Symbol DNAJC19provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C19provided by HGNC Primary source HGNC:HGNC:30528 See related Ensembl:ENSG00000205981 MIM:608977; AllianceGenome:HGNC:30528 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 PAM18; TIM14; TIMM14 Summary The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in kidney (RPKM 18.0), adrenal (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
DNAJC19P4, Official Symbol DNAJC19P4provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C19 pseudogene 4provided by HGNC Primary source HGNC:HGNC:45067 See related Ensembl:ENSG00000225310 AllianceGenome:HGNC:45067 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJC19P5, Official Symbol DNAJC19P5provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5provided by HGNC Primary source HGNC:HGNC:45068 See related AllianceGenome:HGNC:45068 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DNAJC2, Official Symbol DNAJC2provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C2provided by HGNC Primary source HGNC:HGNC:13192 See related Ensembl:ENSG00000105821 MIM:605502; AllianceGenome:HGNC:13192 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 ZRF1; ZUO1; MPP11; MPHOSPH11 Summary This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 19.0), testis (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
DNAJC21, Official Symbol DNAJC21provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C21provided by HGNC Primary source HGNC:HGNC:27030 See related Ensembl:ENSG00000168724 MIM:617048; AllianceGenome:HGNC:27030 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 GS3; JJJ1; BMFS3; DNAJA5 Summary This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 12.7), placenta (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
DNAJC22, Official Symbol DNAJC22provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C22provided by HGNC Primary source HGNC:HGNC:25802 See related Ensembl:ENSG00000178401 AllianceGenome:HGNC:25802 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 wus Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 7.7), duodenum (RPKM 7.3) and 10 other tissues See more Orthologs mouse all
DNAJC24, Official Symbol DNAJC24provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C24provided by HGNC Primary source HGNC:HGNC:26979 See related Ensembl:ENSG00000170946 MIM:611072; AllianceGenome:HGNC:26979 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 DPH4; JJJ3; ZCSL3 Summary Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in fat (RPKM 5.9), skin (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
DNAJC25, Official Symbol DNAJC25provided by HGNC Official Full Name DnaJ heat shock protein family (Hsp40) member C25provided by HGNC Primary source HGNC:HGNC:34187 See related Ensembl:ENSG00000059769 AllianceGenome:HGNC:34187 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 bA16L21.2.1 Summary Predicted to be involved in protein folding. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 12.9), adrenal (RPKM 7.6) and 24 other tissues See more Orthologs mouse all