Persius/hicric huggingface dataset:
ZCCHC6
Terminal uridylyltransferase 7 (TUT7), also known as "zinc finger, CCHC domain containing 6", is an enzyme that in humans is encoded by the ZCCHC6 gene located on chromosone 9. The ZCCHC6 protein mediates the terminal uridylation of RNA transcripts with short poly-A tails and is involved in mRNA and microRNA degradation

# Structure
The ZCCHC6 gene contains 33 exons with at least six known isoforms due to alternative splicing. The ZCCHC6 gene encodes for a protein that is 171 kDa in molecular weight and is localized to the cytoplasm.

# Function
It catalyzes the following reaction, requiring Mg2+ and Mn2+ as co-factors.
UTP + RNA(n) = diphosphate + RNA(n+1) 
Uridylation catalyzed by ZCCHC6 takes place readily on deadenylated mRNAs inside the cells. Purified ZZHC6 selectively recognizes and uridylates RNA molecules possessing short polyA-tails (less than 25 nucleotides) in vitro.  In cells depleted of ZCCHC6, the majority of mRNAs lose the signature oligo-U-tails that are characteristic of ZCCHC6 reactivity, and the half-life of mRNA molecules are accordingly prolonged.
In addition to mRNA degradation, uridylation is also thought to function in pre-microRNA maturation, with some group II pre-microRNA requiring 3' mono-uridylation for Dicer processing. ZCCHC6 is thought to work in redundancy with ZCCHC11 to mediate the biogenesis of the let-7 microRNA through uridylation.
ZFYVE1
Zinc finger FYVE domain-containing protein 1 is a protein that in humans is encoded by the ZFYVE1 gene.
The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains two zinc-binding FYVE domains in tandem. This protein displays a predominantly Golgi, endoplasmic reticulum and vesicular distribution.
Alternatively spliced transcript variants have been found for this gene, and they encode two isoforms with different sizes.
ZMYND8
Protein kinase C-binding protein 1 is an enzyme that in humans is encoded by the ZMYND8 gene.
The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene.

# Model organisms
Model organisms have been used in the study of ZMYND8 function. A conditional knockout mouse line, called Zmynd8tm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty one tests were carried out on mutant mice and two significant abnormalities were observed.  Few homozygous mutant embryos were identified during gestation and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.
ZNF184
Zinc finger protein 184, also known as ZNF184, is a protein that in humans is encoded by the ZNF184 gene on chromosome 6. It was first identified by Goldwurm et al. in 1996.
The National Center for Biotechnology Information (NCBI) Gene database entry  for ZNF184 identifies conserved domains KRAB_A  (Kruppel associated box) near the N-terminus and Zn-finger (Zinc finger) at the C-terminus of the translated protein. The former is associated with transcription repression and the latter with DNA binding (see Zinc finger).

# Domains and Structure
The figure below is a reformatted and annotated conceptual translation display of ZNF184's Consensus CDS.  CCDS displays exons in alternating black and blue font, with red indicating a residue coded across a splice boundary.
ZNF184 has 19 zinc finger motifs at the end of its final and longest exon.  The figure shows regularity among the fingers in this protein, including the 2 columns of green-highlighted Cysteine residues and the 2 columns of blue-highlighted His residues which are the reason this type of zinc finger is called C2H2.  Light grey highlighted columns (one with all F; one with mostly L, and F substitutions) are highly conserved hydrophobic residues within the zinc finger motif.  The other light grey highlighted column (mostly K, with a similar R substitution) is an example of fairly strong conservation in the coil sections connecting adjacent fingers.
Near the N-terminus is a KRAB_A domain followed by a KRAB_B domain.  KRAB_A has a shorter -Helix followed by a longer -Helix.  The KRAB_A motif in a zinc finger protein is known to bind with a KAP-1 protein (aka TRIM28) to accomplish a transcription repressor function, however a gene so regulated by ZNF184 has yet to be identified.  The length-11 finger helices are indicated, as well as the overlapping 7-residue section in each finger which binds targeted DNA (if the finger is functioning).
ZNF366
Zinc finger protein 366, also known as DC-SCRIPT (Dendritic cell-specific transcript), is a protein that in humans is encoded by the ZNF366 gene. The ZNF366 gene was first identified in a DNA comparison study between 85 kb of Fugu rubripes sequence containing 17 genes with its homologous loci in the human draft genome.

# Function
In 2006, DC-SCRIPT was isolated and characterized in human monocyte-derived dendritic cells (mo-DCs).
DC-SCRIPT contains a DNA-binding domain (11 C2H2 zinc (Zn) fingers), flanked by a proline-rich and an acidic region, which can interact with C-terminal-binding protein 1 (CtBP1), a global corepressor. In the immune system of both mice and humans, DC-SCRIPT was found to be specifically expressed in dendritic cells (DCs).
In COS-1 cells, DC-SCRIPT was shown to interact with the estrogen receptor DNA-binding domain (ERDBD) and represses ER activity through the association with RIP140, CtBP and histone deacetylases.

# Breast cancer
In 2010, it was shown that DC-SCRIPT can act as a coregulator of multiple nuclear receptors having opposite effects on type I vs type II NRs. DC-SCRIPT is able to repress ER and PR mediated transcription, whereas it can activate transcription mediated by RAR and PPAR.  In the same study, it was shown that breast tumor tissue expresses lower levels of DC-SCRIPT than normal breast tissue from the same patient and that DC-SCRIPT mRNA expression is an independent prognostic factor for good survival of breast cancer patients with estrogen receptor- and/or progesterone receptor-positive tumors.
ZNF384
Zinc finger protein 384 is a protein that in humans is encoded by the ZNF384 gene.

# Function
This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that ZNF384 may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants.

# Clinical significance
Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia.
ZNF423
Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mice lacking the homologous gene Zfp423 have defects in midline brain development, especially in the cerebellum, as well as defects in olfactory development, and adipogenesis. Patients with mutations in ZNF423 have been reported in Joubert Syndrome and nephronophthisis.

# Interactions
ZNF423 has been shown to interact with EBF1, PARP1, Notch intracellular domain, retinoic acid receptor, and CEP290.
ZNF469
Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene.

# Function
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome.

# Clinical significance
Mutations in ZNF469 are associated to                 keratoconus            .
Zif268
Zif268 is a mammalian transcription factor that is now officially known as Egr1 (Early Growth Response Protein 1). It was also named Krox-24, NGFI-A, TIS8, and ZENK. It was originally discovered in mouse.
The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppresor gene.

# Structure
The DNA binding domain of Zif268 consists of three zinc finger domains of the Cys2His2 type.
The amino acid structure of the Zif268 zinc finger domain is given in this table, using the single letter amino acid code. The fingers 1 to 3 are indicated by f1 - f3. The numbers are in reference to the residues (amino acids) of alpha helix (there is no '0'). The residues marked 'x' are not part of the zinc fingers, but rather serve to connect them all together.
The crystal structure of DNA bound by the zinc finger domain of Zif268 was solved in 1991, which greatly aided early research in zinc finger DNA-binding domains.
The human Zif268/EGR1 protein contains (in its unprocessed form) 543 amino acids with a molecular weight of 57.5 kDa, and the gene is located on the chromosome 5.

# Function
Zif268 binds the DNA sequence 5'-GCGGGCG-3.
It has a distinct pattern of expression in the brain, and its induction has been shown to be assiociated with neuronal activity. Several studies suggest it has a role in neuronal plasticity.
Zif268 has also been found to regulate the expression of synaptobrevin II (a protein important for synaptic exocytosis).
A2ML1
Alpha-2-macroglobulin-like 1 abbreviated as 2ML1 is a protein that in humans is encoded by the A2ML1 gene. 2ML1  is a large, 180 kDa protein found in the epidermis. It is able to the inhibit the chymotryptic activity of KLK7.

# Function
This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP). Alternative splicing results in multiple transcript variants.

# Clinical significance
Mutations in A2ML1 are associated to                 Noonan-like syndrome            .
ABCA3
ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.

# Clinical significance
Mutations in ABCA3 are associated to                 cataract-microcornea syndrome            .
It is associated with Surfactant metabolism dysfunction type 3.
ABCA5
ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene.

# Function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecule across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. .

# Clinical significance
Mutations in ABCA5 cause                 excessive hair overgrowth            .
ABCA7
ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.

# Function
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and White. This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. Alternative splicing of this gene results in two transcript variants.

# Clinical significance
Protein-disrupting variants in ABCA7 have been shown to predispose to Alzheimer's disease. The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present.
ABCB5
ATP-binding cassette sub-family B member 5 also known as P-glycoprotein ABCB5 is a plasma membrane-spanning protein that in humans is encoded by the ABCB5 gene. ABCB5 is an ABC transporter and P-glycoprotein family member principally expressed in physiological skin and human malignant melanoma.

# Clinical significance
ABCB5 has been suggested to regulate skin progenitor cell fusion and mediate chemotherapeutic drug resistance in stem-like tumor cell subpopulations in human malignant melanoma. It is commonly over-expressed on circulating melanoma tumour cells. Furthermore, the ABCB5+ melanoma- initiating cells were demonstrated to express FLT1 (VEGFR1) receptor tyrosine kinase which was functionally required for efficient xenograft tumor formation, as demonstrated by shRNA knockdown experiments.
In colorectal cancer, ABCB5 was shown to act as a mediator of 5-FU patient chemoresistance, and had a further direct role in tumorigenesis shown by shRNA-mediated colorectal cancer cell-line ABCB5 knockdowns that impeded tumorigenesis in human-to-mouse xenografts. In melanoma, ABCB5 contributes to multi-drug chemotherapy resistance, and tumor growth, controlling a proinflammatory signaling circuit utilizing TLR4, IL-1, IL8 and CXCR1 signaling involving reciprocal paracrine interactions between the melanoma stem cell and tumor bulk population (in a rheostat manner termed "cancer stem cell rheostasis"). ABCB5 was shown to maintain the slow-cycling melanoma stem cells using this cytokine signaling loop, which became more differentiated upon ABCB5 interference (e.g. WFDC1 melanocyte differentiation marker increased, cancer cells were faster growing in vitro, tumors were more pigmented), or CXCR1 blockade (slow-cycling ABCB5+ cells entered the cell-cycle).
In normal physiology ABCB5 is a functional marker for adult limbal stem cells of the cornea. ABCB5+ cells could regrow a human cornea on a mouse with limbal stem cell deficiency (LSCD - a blindness disease of the corneal limbus) while ABCB5- cells could not, indicating a therapeutic potential for treating some types of blindness. ABCB5 was further shown to be anti-apoptotic in these adult stem cells.
ABCB7
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.

# Function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol.  With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.

# Clinical significance
Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.

# Interactions
ABCB7 has been shown to interact with Ferrochelatase.
ABCC3
Canalicular multispecific organic anion transporter 2 is a protein that in humans is encoded by the ABCC3 gene.

# Function
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
ABCC3 is induced as a hepatoprotective response to a variety of pathologic liver conditions. The constitutive androstane receptor, pregnane X receptor and nuclear factor (erythroid-derived 2)-like 2 (Nrf2) transcription factors are involved in mediating induction. A functional antioxidant response element in the 8th intron of the human ABCC3 gene appears responsible for Nrf2-mediated induction in response to oxidative stress.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
-  The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
ABCC4
ATP-binding cassette sub-family C member 4 (ABCC4), also known as the multidrug resistance-associated protein 4 (MRP4) or multi-specific organic anion transporter B (MOAT-B), is a protein that in humans is encoded by the ABCC4 gene.
ABCC4 acts as a regulator of intracellular cyclic nucleotide levels and as a mediator of cAMP-dependent signal transduction to the nucleus. MRP4/ABCC4 also transports prostaglandins, for example PGE2, out of the cell where they can bind receptors.
MRP4/ABCC4 expression is dysregulated in several cancers  and is also upregulated in peritoneal endometriosis.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
-  The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}