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ZNF81 zinc finger protein 81 [ Homo sapiens (human) ]

Gene ID: 347344, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF81provided by HGNC
Official Full Name
zinc finger protein 81provided by HGNC
Primary source
HGNC:HGNC:13156
See related
Ensembl:ENSG00000197779 MIM:314998; AllianceGenome:HGNC:13156
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
HFZ20; MRX45; dJ54B20.6
Summary
This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in thyroid (RPKM 1.2), skin (RPKM 1.1) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF81 in Genome Data Viewer
Location:
Xp11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47836902..47925627)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47246777..47335477)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47696301..47785026)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 484 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47648236-47648798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47665811-47666441 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:47675037-47676236 Neighboring gene WASP family member 4, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29598 Neighboring gene ribosomal protein L7 pseudogene 57 Neighboring gene CRISPRi-FlowFISH-validated HDAC6 regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29599 Neighboring gene zinc finger protein 182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29600 Neighboring gene sperm acrosome associated 5

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. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. Kleefstra T, et al. J Med Genet, 2004 May. PMID 15121780, Free PMC Article
  2. A high-resolution map of genes, microsatellite markers, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11.23. Kwan SP, et al. Genomics, 1995 Sep 1. PMID 8530079
  3. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. Marino M, et al. Mamm Genome, 1993. PMID 8507979
  4. A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density. Coleman MP, et al. Genomics, 1994 May 15. PMID 8088827
  5. Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23. Hagemann T, et al. Genomics, 1994 May 1. PMID 8088799

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-10-29)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-10-29)

ClinGen Genome Curation Page

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

  • FLJ44367

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger protein 81

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_021266.2 RefSeqGene

    Range
    5002..93727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378152.1 → NP_001365081.1  zinc finger protein 81 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
    Consensus CDS
    CCDS43933.1
    UniProtKB/Swiss-Prot
    P51508, Q6RX22, Q96QH6
    Conserved Domains (3) summary
    smart00349
    Location:21 → 81
    KRAB; krueppel associated box
    COG5048
    Location:356 → 651
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444 → 464
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_001378153.1 → NP_001365082.1  zinc finger protein 81 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
    Consensus CDS
    CCDS43933.1
    UniProtKB/Swiss-Prot
    P51508, Q6RX22, Q96QH6
    Conserved Domains (3) summary
    smart00349
    Location:21 → 81
    KRAB; krueppel associated box
    COG5048
    Location:356 → 651
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444 → 464
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. NM_001378154.1 → NP_001365083.1  zinc finger protein 81 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
    Conserved Domains (1) summary
    smart00349
    Location:21 → 81
    KRAB; krueppel associated box

  4. NM_001378155.1 → NP_001365084.1  zinc finger protein 81 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
    UniProtKB/TrEMBL
    B1AJV2
    Conserved Domains (1) summary
    smart00349
    Location:21 → 81
    KRAB; krueppel associated box

  5. NM_007137.5 → NP_009068.2  zinc finger protein 81 isoform 1

    See identical proteins and their annotated locations for NP_009068.2

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
    Consensus CDS
    CCDS43933.1
    UniProtKB/Swiss-Prot
    P51508, Q6RX22, Q96QH6
    Related
    ENSP00000341151.7, ENST00000338637.13
    Conserved Domains (3) summary
    smart00349
    Location:21 → 81
    KRAB; krueppel associated box
    COG5048
    Location:356 → 651
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444 → 464
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. NR_165431.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394
    Related
    ENST00000334937.8

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    47836902..47925627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47246777..47335477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51508.3 GenPept UniProtKB/Swiss-Prot:P51508

Gene LinkOut

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