ZNF81
Zinc finger protein 81
Also known as: HFZ20, MRX45, ZNF81_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51508
- Gene
- ZNF81
- Ensembl
- ENSG00000197779
- Chromosome
- X
- Canonical length
- 661 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
661 residues, UniProt reviewed canonical sequence.
>P51508|ZNF81
1 MPANEDAPQP GEHGSACEVS VSFEDVTVDF SREEWQQLDS TQRRLYQDVM LENYSHLLSV
61 GFEVPKPEVI FKLEQGEGPW TLEGEAPHQS CSDGKFGIKP SQRRISGKST FHSEMEGEDT
121 RDDSLYSILE ELWQDAEQIK RCQEKHNKLL SRTTFLNKKI LNTEWDYEYK DFGKFVHPSP
181 NLILSQKRPH KRDSFGKSFK HNLDLHIHNK SNAAKNLDKT IGHGQVFTQN SSYSHHENTH
241 TGVKFCERNQ CGKVLSLKHS LSQNVKFPIG EKANTCTEFG KIFTQRSHFF APQKIHTVEK
301 PHELSKCVNV FTQKPLLSIY LRVHRDEKLY ICTKCGKAFI QNSELIMHEK THTREKPYKC
361 NECGKSFFQV SSLLRHQTTH TGEKLFECSE CGKGFSLNSA LNIHQKIHTG ERHHKCSECG
421 KAFTQKSTLR MHQRIHTGER SYICTQCGQA FIQKAHLIAH QRIHTGEKPY ECSDCGKSFP
481 SKSQLQMHKR IHTGEKPYIC TECGKAFTNR SNLNTHQKSH TGEKSYICAE CGKAFTDRSN
541 FNKHQTIHTG EKPYVCADCG RAFIQKSELI THQRIHTTEK PYKCPDCEKS FSKKPHLKVH
601 QRIHTGEKPY ICAECGKAFT DRSNFNKHQT IHTGDKPYKC SDCGKGFTQK SVLSMHRNIH
661 TLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ZNF81 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 4 nTPM
Expression across tissuesHPA
Tissue
- retina: 4 nTPM
- skin: 3.4 nTPM
- heart muscle: 3.3 nTPM
- parathyroid gland: 3.3 nTPM
- bone marrow: 3 nTPM
- rectum: 2.7 nTPM
Single-cell type
- cardiomyocytes: 78 nCPM
- adipocytes: 76 nCPM
- fibro-adipogenic progenitors: 63 nCPM
- thyrotrophs: 55 nCPM
- proximal tubule cells: 53 nCPM
- lactotrophs: 53 nCPM
Immune cell
- eosinophil: 3 nTPM
- NK-cell: 2.7 nTPM
- intermediate monocyte: 1.8 nTPM
- neutrophil: 1.8 nTPM
- myeloid DC: 1.6 nTPM
- classical monocyte: 1.5 nTPM
Brain region
- hypothalamus: 20 nTPM
- white matter: 20 nTPM
- basal ganglia: 19 nTPM
- medulla oblongata: 18 nTPM
- thalamus: 18 nTPM
- cerebral cortex: 18 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.51
- gnomAD pLI
- 0.55
- gnomAD missense Z
- 1.42
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ZNF81 as an antibody target. Whether an autoantibody or antibody against ZNF81 could matter depends on whether native ZNF81 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ZNF81 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ZNF81 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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