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    ZFY zinc finger protein Y-linked [ Homo sapiens (human) ]

    Gene ID: 7544, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZFYprovided by HGNC
    Official Full Name
    zinc finger protein Y-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:12870
    See related
    Ensembl:ENSG00000067646 MIM:490000; AllianceGenome:HGNC:12870
    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
    ZNF911
    Summary
    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. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: This gene is annotated on the Y chromosome of the reference genome and HuRef assemblies but is annotated on the X chromosome of the Celera assembly (as gene LOC100130829 and model XM_001713692.1). [18 Feb 2009]
    Expression
    Broad expression in testis (RPKM 3.4), prostate (RPKM 3.2) and 20 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    Yp11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (2935381..2982506)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (2611525..2659668)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (2803422..2850547)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene heat shock transcription factor Y-linked 3, pseudogene Neighboring gene nucleosome assembly protein 1 like 1 pseudogene 2 Neighboring gene ZFY antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 41 Neighboring gene long intergenic non-protein coding RNA 278 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrY:2956017-2956558

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Onset of sex differentiation: dialog between genes and cells. Merchant-Larios H, et al. Arch Med Res, 2001 Nov-Dec. PMID 11750730
    2. Three thousand years of questioning sex determination. Mittwoch U. Cytogenet Cell Genet, 2000. PMID 11173854
    3. Sex chromosomal transposable element accumulation and male-driven substitutional evolution in humans. Erlandsson R, et al. Mol Biol Evol, 2000 May. PMID 10779541
    4. ZFY gene expression and retention in human prostate adenocarcinoma. Tricoli JV, et al. Genes Chromosomes Cancer, 1993 Feb. PMID 7680890
    5. The putative testis-determining factor and related genes are expressed as discrete-sized transcripts in adult gonadal and somatic tissues. Lau YF, et al. Am J Hum Genet, 1989 Dec. PMID 2511751, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters.
      Title: Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters.
    2. Studies identified a major testis-specific ZFY transcript that encodes a protein with the same short acidic domain.
      Title: Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138710

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger Y-chromosomal protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008113.1 RefSeqGene

      Range
      4877..52002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145275.2 → NP_001138747.1  zinc finger Y-chromosomal protein isoform 2

      See identical proteins and their annotated locations for NP_001138747.1

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Consensus CDS
      CCDS48201.1
      UniProtKB/TrEMBL
      B7ZKJ5
      Related
      ENSP00000393908.1, ENST00000449237.4
      Conserved Domains (5) summary
      COG5048
      Location:462 → 599
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:409 → 429
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:45 → 329
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:638 → 660
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:481 → 505
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001145276.2 → NP_001138748.1  zinc finger Y-chromosomal protein isoform 3

      See identical proteins and their annotated locations for NP_001138748.1

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Consensus CDS
      CCDS48200.1
      UniProtKB/TrEMBL
      Q8WXB7
      Related
      ENSP00000485605.1, ENST00000625061.3
      Conserved Domains (5) summary
      COG5048
      Location:348 → 485
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:295 → 315
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:22 → 215
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:367 → 389
      zf-H2C2_2; Zinc-finger double domain
      cl19880
      Location:232 → 248
      ROS_MUCR; ROS/MUCR transcriptional regulator protein

    3. NM_001369702.1 → NP_001356631.1  zinc finger Y-chromosomal protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Consensus CDS
      CCDS14774.1
      UniProtKB/Swiss-Prot
      B4DVF7, P08048, Q14021, Q15558, Q1RME9, Q24JR0, Q96TF3
      Related
      ENSP00000372525.1, ENST00000383052.5
      Conserved Domains (5) summary
      COG5048
      Location:539 → 676
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:486 → 506
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:71 → 406
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:715 → 737
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:558 → 582
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001369703.1 → NP_001356632.1  zinc finger Y-chromosomal protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Conserved Domains (5) summary
      COG5048
      Location:513 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:45 → 380
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:532 → 556
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001369704.1 → NP_001356633.1  zinc finger Y-chromosomal protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Conserved Domains (5) summary
      COG5048
      Location:513 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:45 → 380
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:532 → 556
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001369705.1 → NP_001356634.1  zinc finger Y-chromosomal protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Conserved Domains (5) summary
      COG5048
      Location:513 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:45 → 380
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:689 → 711
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:532 → 556
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001369706.1 → NP_001356635.1  zinc finger Y-chromosomal protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006157
      UniProtKB/TrEMBL
      B7ZKJ5
      Conserved Domains (5) summary
      COG5048
      Location:488 → 625
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:435 → 455
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:71 → 355
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:664 → 686
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:507 → 531
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001369707.1 → NP_001356636.1  zinc finger Y-chromosomal protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006157
      UniProtKB/TrEMBL
      B7ZKJ5
      Conserved Domains (5) summary
      COG5048
      Location:488 → 625
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:435 → 455
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:71 → 355
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:664 → 686
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:507 → 531
      zf-H2C2_2; Zinc-finger double domain

    9. NM_001369708.1 → NP_001356637.1  zinc finger Y-chromosomal protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC006157
      Consensus CDS
      CCDS48201.1
      UniProtKB/TrEMBL
      B7ZKJ5
      Conserved Domains (5) summary
      COG5048
      Location:462 → 599
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:409 → 429
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:45 → 329
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:638 → 660
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:481 → 505
      zf-H2C2_2; Zinc-finger double domain

    10. NM_001369709.1 → NP_001356638.1  zinc finger Y-chromosomal protein isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006157
      UniProtKB/TrEMBL
      Q8WXB7
      Conserved Domains (5) summary
      COG5048
      Location:297 → 434
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:244 → 264
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:22 → 164
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam13465
      Location:316 → 340
      zf-H2C2_2; Zinc-finger double domain
      cl19880
      Location:181 → 199
      ROS_MUCR; ROS/MUCR transcriptional regulator protein

    11. NM_001369710.1 → NP_001356639.1  zinc finger Y-chromosomal protein isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006157
      UniProtKB/TrEMBL
      Q8WXB7
      Conserved Domains (5) summary
      COG5048
      Location:255 → 392
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:202 → 222
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:233 → 254
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:2 → 122
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      cl19880
      Location:139 → 157
      ROS_MUCR; ROS/MUCR transcriptional regulator protein

    12. NM_003411.4 → NP_003402.2  zinc finger Y-chromosomal protein isoform 1

      See identical proteins and their annotated locations for NP_003402.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
      Source sequence(s)
      AC006157, AI469059, AI763177, AL137603, BC114526, M30607
      Consensus CDS
      CCDS14774.1
      UniProtKB/Swiss-Prot
      B4DVF7, P08048, Q14021, Q15558, Q1RME9, Q24JR0, Q96TF3
      Related
      ENSP00000155093.3, ENST00000155093.8
      Conserved Domains (5) summary
      COG5048
      Location:539 → 676
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:486 → 506
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:71 → 406
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:715 → 737
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:558 → 582
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      2935381..2982506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017030075.2 → XP_016885564.1  zinc finger Y-chromosomal protein isoform X1

      UniProtKB/Swiss-Prot
      B4DVF7, P08048, Q14021, Q15558, Q1RME9, Q24JR0, Q96TF3
      Conserved Domains (5) summary
      COG5048
      Location:539 → 676
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:486 → 506
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam04704
      Location:71 → 406
      Zfx_Zfy_act; Zfx / Zfy transcription activation region
      pfam00096
      Location:715 → 737
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:558 → 582
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047442758.1 → XP_047298714.1  zinc finger Y-chromosomal protein isoform X1

      UniProtKB/Swiss-Prot
      B4DVF7, P08048, Q14021, Q15558, Q1RME9, Q24JR0, Q96TF3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      2611525..2659668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328361.1 → XP_054184336.1  zinc finger Y-chromosomal protein isoform X1

      UniProtKB/Swiss-Prot
      B4DVF7, P08048, Q14021, Q15558, Q1RME9, Q24JR0, Q96TF3

    2. XM_054328362.1 → XP_054184337.1  zinc finger Y-chromosomal protein isoform X1

      UniProtKB/Swiss-Prot
      B4DVF7, P08048, Q14021, Q15558, Q1RME9, Q24JR0, Q96TF3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08048.3 GenPept UniProtKB/Swiss-Prot:P08048

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