ZFY

Zinc finger Y-chromosomal protein is a protein that in humans is encoded by the ZFY gene of the Y chromosome.^[3][4]

ZFY
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1KLR, 1KLS, 1XRZ, 5ZNF
Identifiers
Aliases	ZFY, ZNF911, zinc finger protein, Y-linked, zinc finger protein Y-linked
External IDs	OMIM: 490000; HomoloGene: 88465; GeneCards: ZFY; OMA:ZFY - orthologs
Gene location (Human) Chr. Y chromosome (human)[1] Band Yp11.2 Start 2,935,281 bp[1] End 2,982,506 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm gonad rectum testicle parietal pleura trabecular bone Achilles tendon oral cavity skin of thigh mucosa of paranasal sinus n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding metal ion binding nucleic acid binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm nucleolus Biological process multicellular organism development transcription, DNA-templated regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7544 n/a Ensembl ENSG00000067646 n/a UniProt P08048 n/a RefSeq (mRNA) NM_001145275 NM_001145276 NM_003411 n/a RefSeq (protein) NP_001138747 NP_001138748 NP_003402 NP_001356631 NP_001356632 NP_001356633 NP_001356634 NP_001356635 NP_001356636 NP_001356637 NP_001356638 NP_001356639 n/a Location (UCSC) Chr Y: 2.94 – 2.98 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF.^[4]

Humans express a single ZFY gene with two splice variants, while mice express two paralogous copies, Zfy1 and Zfy2.^[5] During spermatogenesis, wrongful expression of either Zfy1 or Zfy2 results in programmed cell death, apoptosis, at the mid-pachytene checkpoint. In mice, Zfy genes are necessary for meiotic sex chromosome inactivation (MSCI). In Zfy knockout spermatocytes, sex chromosomes are incorrectly silenced. Thus, Zfy performs three functions at the mid-pachytene checkpoint: (1) promote MSCI, (2) monitor MSCI progress, and (3) execute cells, via apoptosis, that fail to undergo MSCI.^[5]

In humans, ZFY is broadly expressed across tissues with particularly high expression in the testis.^[6]

Disorders associated with the ZFY gene include campomelic dysplasia, cystadenofibroma, and Frasier syndrome.^[7]