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Protein

Zinc finger protein 81

Gene

ZNF81

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri330 – 35223C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri358 – 38023C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri386 – 40823C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri414 – 43623C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri442 – 46423C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri470 – 49223C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri498 – 52023C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri526 – 54823C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri554 – 57623C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri582 – 60423C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri610 – 63223C2H2-type 11PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri638 – 66023C2H2-type 12PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 81
Alternative name(s):
HFZ20
Gene namesi
Name:ZNF81
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:13156. ZNF81.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 45 (MRX45)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
See also OMIM:300498
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791S → N in MRX45. 1 Publication
Corresponds to variant rs28933691 [ dbSNP | Ensembl ].
VAR_019941

A chromosomal aberration involving ZNF81 is found in a severe mental retardation patient. Translocation t(X;9)(p11.23;q34.3).

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MalaCardsiZNF81.
MIMi300498. phenotype.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA37730.

Polymorphism and mutation databases

BioMutaiZNF81.
DMDMi55977803.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 661661Zinc finger protein 81PRO_0000047395Add
BLAST

Proteomic databases

PaxDbiP51508.
PeptideAtlasiP51508.
PRIDEiP51508.

PTM databases

iPTMnetiP51508.
PhosphoSiteiP51508.

Expressioni

Gene expression databases

BgeeiP51508.
CleanExiHS_ZNF81.
ExpressionAtlasiP51508. baseline and differential.
GenevisibleiP51508. HS.

Organism-specific databases

HPAiHPA001689.

Interactioni

Protein-protein interaction databases

BioGridi131424. 1 interaction.
STRINGi9606.ENSP00000341151.

Structurei

3D structure databases

ProteinModelPortaliP51508.
SMRiP51508. Positions 14-62, 187-661.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini21 – 9272KRABPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 12 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri330 – 35223C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri358 – 38023C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri386 – 40823C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri414 – 43623C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri442 – 46423C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri470 – 49223C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri498 – 52023C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri526 – 54823C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri554 – 57623C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri582 – 60423C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri610 – 63223C2H2-type 11PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri638 – 66023C2H2-type 12PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00830000128369.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiP51508.
KOiK09228.
OMAiKILNTEW.
PhylomeDBiP51508.
TreeFamiTF350810.

Family and domain databases

Gene3Di3.30.160.60. 13 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 5 hits.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 12 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 12 hits.
PS50157. ZINC_FINGER_C2H2_2. 13 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P51508-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPANEDAPQP GEHGSACEVS VSFEDVTVDF SREEWQQLDS TQRRLYQDVM
60 70 80 90 100
LENYSHLLSV GFEVPKPEVI FKLEQGEGPW TLEGEAPHQS CSDGKFGIKP
110 120 130 140 150
SQRRISGKST FHSEMEGEDT RDDSLYSILE ELWQDAEQIK RCQEKHNKLL
160 170 180 190 200
SRTTFLNKKI LNTEWDYEYK DFGKFVHPSP NLILSQKRPH KRDSFGKSFK
210 220 230 240 250
HNLDLHIHNK SNAAKNLDKT IGHGQVFTQN SSYSHHENTH TGVKFCERNQ
260 270 280 290 300
CGKVLSLKHS LSQNVKFPIG EKANTCTEFG KIFTQRSHFF APQKIHTVEK
310 320 330 340 350
PHELSKCVNV FTQKPLLSIY LRVHRDEKLY ICTKCGKAFI QNSELIMHEK
360 370 380 390 400
THTREKPYKC NECGKSFFQV SSLLRHQTTH TGEKLFECSE CGKGFSLNSA
410 420 430 440 450
LNIHQKIHTG ERHHKCSECG KAFTQKSTLR MHQRIHTGER SYICTQCGQA
460 470 480 490 500
FIQKAHLIAH QRIHTGEKPY ECSDCGKSFP SKSQLQMHKR IHTGEKPYIC
510 520 530 540 550
TECGKAFTNR SNLNTHQKSH TGEKSYICAE CGKAFTDRSN FNKHQTIHTG
560 570 580 590 600
EKPYVCADCG RAFIQKSELI THQRIHTTEK PYKCPDCEKS FSKKPHLKVH
610 620 630 640 650
QRIHTGEKPY ICAECGKAFT DRSNFNKHQT IHTGDKPYKC SDCGKGFTQK
660
SVLSMHRNIH T
Length:661
Mass (Da):75,960
Last modified:November 23, 2004 - v3
Checksum:i6583905D2DB96975
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31A → V.1 Publication
Corresponds to variant rs183846665 [ dbSNP | Ensembl ].
VAR_019939
Natural varianti117 – 1171G → V.
Corresponds to variant rs17147793 [ dbSNP | Ensembl ].
VAR_038806
Natural varianti157 – 1571N → S.1 Publication
Corresponds to variant rs41312157 [ dbSNP | Ensembl ].
VAR_019940
Natural varianti179 – 1791S → N in MRX45. 1 Publication
Corresponds to variant rs28933691 [ dbSNP | Ensembl ].
VAR_019941
Natural varianti185 – 1851S → L.1 Publication
Corresponds to variant rs186251256 [ dbSNP | Ensembl ].
VAR_019942
Natural varianti213 – 2131A → E.
Corresponds to variant rs537825 [ dbSNP | Ensembl ].
VAR_052765
Natural varianti499 – 4991I → V.1 Publication
Corresponds to variant rs182239885 [ dbSNP | Ensembl ].
VAR_019943

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY487248 mRNA. Translation: AAS17752.1.
AL591394, AL022578, Z98304 Genomic DNA. Translation: CAI39462.1.
AL022578, AL591394, Z98304 Genomic DNA. Translation: CAI42739.1.
Z98304, AL022578, AL591394 Genomic DNA. Translation: CAI42943.1.
X68011 Genomic DNA. Translation: CAA48148.1.
CCDSiCCDS43933.1.
PIRiS60520.
RefSeqiNP_009068.2. NM_007137.3.
XP_005272657.1. XM_005272600.2.
XP_011542201.1. XM_011543899.1.
XP_011542202.1. XM_011543900.1.
XP_011542203.1. XM_011543901.1.
XP_011542204.1. XM_011543902.1.
UniGeneiHs.114246.
Hs.710432.

Genome annotation databases

EnsembliENST00000338637; ENSP00000341151; ENSG00000197779.
ENST00000376954; ENSP00000366153; ENSG00000197779.
GeneIDi347344.
KEGGihsa:347344.
UCSCiuc010nhy.3. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY487248 mRNA. Translation: AAS17752.1.
AL591394, AL022578, Z98304 Genomic DNA. Translation: CAI39462.1.
AL022578, AL591394, Z98304 Genomic DNA. Translation: CAI42739.1.
Z98304, AL022578, AL591394 Genomic DNA. Translation: CAI42943.1.
X68011 Genomic DNA. Translation: CAA48148.1.
CCDSiCCDS43933.1.
PIRiS60520.
RefSeqiNP_009068.2. NM_007137.3.
XP_005272657.1. XM_005272600.2.
XP_011542201.1. XM_011543899.1.
XP_011542202.1. XM_011543900.1.
XP_011542203.1. XM_011543901.1.
XP_011542204.1. XM_011543902.1.
UniGeneiHs.114246.
Hs.710432.

3D structure databases

ProteinModelPortaliP51508.
SMRiP51508. Positions 14-62, 187-661.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131424. 1 interaction.
STRINGi9606.ENSP00000341151.

PTM databases

iPTMnetiP51508.
PhosphoSiteiP51508.

Polymorphism and mutation databases

BioMutaiZNF81.
DMDMi55977803.

Proteomic databases

PaxDbiP51508.
PeptideAtlasiP51508.
PRIDEiP51508.

Protocols and materials databases

DNASUi347344.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338637; ENSP00000341151; ENSG00000197779.
ENST00000376954; ENSP00000366153; ENSG00000197779.
GeneIDi347344.
KEGGihsa:347344.
UCSCiuc010nhy.3. human.

Organism-specific databases

CTDi347344.
GeneCardsiZNF81.
HGNCiHGNC:13156. ZNF81.
HPAiHPA001689.
MalaCardsiZNF81.
MIMi300498. phenotype.
314998. gene.
neXtProtiNX_P51508.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA37730.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00830000128369.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiP51508.
KOiK09228.
OMAiKILNTEW.
PhylomeDBiP51508.
TreeFamiTF350810.

Miscellaneous databases

ChiTaRSiZNF81. human.
GenomeRNAii347344.
PROiP51508.
SOURCEiSearch...

Gene expression databases

BgeeiP51508.
CleanExiHS_ZNF81.
ExpressionAtlasiP51508. baseline and differential.
GenevisibleiP51508. HS.

Family and domain databases

Gene3Di3.30.160.60. 13 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 5 hits.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 12 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 12 hits.
PS50157. ZINC_FINGER_C2H2_2. 13 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MRX45 ASN-179, VARIANTS VAL-3; SER-157; LEU-185 AND VAL-499, CHROMOSOMAL TRANSLOCATION.
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression."
    Marino M., Archidiacono N., Franze A., Rosati M., Rocchi M., Ballabio A., Grimaldi G.
    Mamm. Genome 4:252-257(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 325-661.

Entry informationi

Entry nameiZNF81_HUMAN
AccessioniPrimary (citable) accession number: P51508
Secondary accession number(s): Q6RX22, Q96QH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 23, 2004
Last modified: July 6, 2016
This is version 144 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.