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

Gene ID: 347344, updated on 1-Aug-2020

Summary

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
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

Genomic context

See ZNF81 in Genome Data Viewer
Location:
Xp11.23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47836902..47925627)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47696270..47781655)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 484 pseudogene Neighboring gene WASP family member 4, pseudogene Neighboring gene ribosomal protein L7 pseudogene 57 Neighboring gene zinc finger protein 182 Neighboring gene sperm acrosome associated 5

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44367

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_021266.1 RefSeqGene

    Range
    5001..90355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
  2. NM_001378153.1NP_001365082.1  zinc finger protein 81 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
  3. NM_001378154.1NP_001365083.1  zinc finger protein 81 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
  4. NM_001378155.1NP_001365084.1  zinc finger protein 81 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL022578, AL591394, Z98304
  5. NM_007137.5NP_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
    Related
    ENSP00000341151.7, ENST00000338637.11
    Conserved Domains (5) summary
    smart00349
    Location:2181
    KRAB; krueppel associated box
    COG5048
    Location:178629
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444464
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2160
    KRAB; KRAB box
    pfam13465
    Location:485509
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_165431.1 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011543900.2XP_011542202.1  zinc finger protein 81 isoform X1

    See identical proteins and their annotated locations for XP_011542202.1

    UniProtKB/Swiss-Prot
    P51508
    Related
    ENSP00000366153.1, ENST00000376954.5
    Conserved Domains (5) summary
    smart00349
    Location:2181
    KRAB; krueppel associated box
    COG5048
    Location:178629
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444464
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2160
    KRAB; KRAB box
    pfam13465
    Location:485509
    zf-H2C2_2; Zinc-finger double domain
  2. XM_017029487.1XP_016884976.1  zinc finger protein 81 isoform X1

    UniProtKB/Swiss-Prot
    P51508
    Conserved Domains (5) summary
    smart00349
    Location:2181
    KRAB; krueppel associated box
    COG5048
    Location:178629
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444464
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2160
    KRAB; KRAB box
    pfam13465
    Location:485509
    zf-H2C2_2; Zinc-finger double domain
  3. XM_011543899.2XP_011542201.1  zinc finger protein 81 isoform X1

    See identical proteins and their annotated locations for XP_011542201.1

    UniProtKB/Swiss-Prot
    P51508
    Conserved Domains (5) summary
    smart00349
    Location:2181
    KRAB; krueppel associated box
    COG5048
    Location:178629
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:444464
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2160
    KRAB; KRAB box
    pfam13465
    Location:485509
    zf-H2C2_2; Zinc-finger double domain
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