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Q92610

- ZN592_HUMAN

UniProt

Q92610 - ZN592_HUMAN

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Protein
Zinc finger protein 592
Gene
ZNF592, KIAA0211
Organism
Homo sapiens (Human)
Status
Reviewed - 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 fingeri587 – 61226C2H2-type 1; atypical
Add
BLAST
Zinc fingeri615 – 63925C2H2-type 2; atypical
Add
BLAST
Zinc fingeri711 – 73121C2H2-type 3; degenerate
Add
BLAST
Zinc fingeri740 – 76425C2H2-type 4
Add
BLAST
Zinc fingeri768 – 79023C2H2-type 5; atypical
Add
BLAST
Zinc fingeri799 – 82224C2H2-type 6
Add
BLAST
Zinc fingeri827 – 85024C2H2-type 7
Add
BLAST
Zinc fingeri892 – 91524C2H2-type 8
Add
BLAST
Zinc fingeri983 – 100624C2H2-type 9
Add
BLAST
Zinc fingeri1013 – 103624C2H2-type 10
Add
BLAST
Zinc fingeri1043 – 106927C2H2-type 11; atypical
Add
BLAST
Zinc fingeri1124 – 114623C2H2-type 12; atypical
Add
BLAST
Zinc fingeri1153 – 117624C2H2-type 13
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
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 592
Gene namesi
Name:ZNF592
Synonyms:KIAA0211
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:28986. ZNF592.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 5 (SCAR5) [MIM:606937]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR5 patients show developmental delay, psychomotor retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1046 – 10461G → R in SCAR5. 1 Publication
VAR_064583

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi606937. phenotype.
Orphaneti83472. CAMOS syndrome.
PharmGKBiPA134918837.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12671267Zinc finger protein 592
PRO_0000047682Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei142 – 1421Phosphoserine1 Publication
Modified residuei145 – 1451Phosphoserine1 Publication
Modified residuei146 – 1461Phosphoserine1 Publication
Modified residuei573 – 5731Phosphoserine2 Publications
Modified residuei691 – 6911Phosphoserine2 Publications
Modified residuei1089 – 10891Phosphoserine1 Publication
Modified residuei1250 – 12501Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ92610.
PaxDbiQ92610.
PRIDEiQ92610.

PTM databases

PhosphoSiteiQ92610.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tissues.1 Publication

Gene expression databases

ArrayExpressiQ92610.
BgeeiQ92610.
CleanExiHS_ZNF592.
GenevestigatoriQ92610.

Organism-specific databases

HPAiHPA020332.
HPA021600.

Interactioni

Protein-protein interaction databases

BioGridi114999. 7 interactions.
IntActiQ92610. 6 interactions.
MINTiMINT-1197629.
STRINGi9606.ENSP00000299927.

Structurei

3D structure databases

ProteinModelPortaliQ92610.
SMRiQ92610. Positions 583-642, 708-916, 976-1072, 1142-1182.

Family & Domainsi

Sequence similaritiesi

Contains 13 C2H2-type zinc fingers.

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG270395.
HOGENOMiHOG000010306.
HOVERGENiHBG062228.
InParanoidiQ92610.
OMAiGLTCQVC.
OrthoDBiEOG7H1JKM.
PhylomeDBiQ92610.
TreeFamiTF329009.

Family and domain databases

InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PfamiPF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 13 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92610-1 [UniParc]FASTAAdd to Basket

« Hide

MGDMKTPDFD DLLAAFDIPD PTSLDAKEAI QTPSEENESP LKPPGICMDE     50
SVSLSHSGSA PDVPAVSVIV KNTSRQESFE AEKDHITPSL LHNGFRGSDL 100
PPDPHNCGKF DSTFMNGDSA RSFPGKLEPP KSEPLPTFNQ FSPISSPEPE 150
DPIKDNGFGI KPKHSDSYFP PPLGCGAVGG PVLEALAKFP VPELHMFDHF 200
CKKEPKPEPL PLGSQQEHEQ SGQNTVEPHK DPDATRFFGE ALEFNSHPSN 250
SIGESKGLAR ELGTCSSVPP RQRLKPAHSK LSSCVAALVA LQAKRVASVT 300
KEDQPGHTKD LSGPTKESSK GSPKMPKSPK SPRSPLEATR KSIKPSDSPR 350
SICSDSSSKG SPSVAASSPP AIPKVRIKTI KTSSGEIKRT VTRILPDPDD 400
PSKSPVGSPL GSAIAEAPSE MPGDEVPVEE HFPEAGTNSG SPQGARKGDE 450
SMTKASDSSS PSCSSGPRVP KGAAPGSQTG KKQQSTALQA STLAPANLLP 500
KAVHLANLNL VPHSVAASVT AKSSVQRRSQ PQLTQMSVPL VHQVKKAAPL 550
IVEVFNKVLH SSNPVPLYAP NLSPPADSRI HVPASGYCCL ECGDAFALEK 600
SLSQHYGRRS VHIEVLCTLC SKTLLFFNKC SLLRHARDHK SKGLVMQCSQ 650
LLVKPISADQ MFVSAPVNST APAAPAPSSS PKHGLTSGSA SPPPPALPLY 700
PDPVRLIRYS IKCLECHKQM RDYMVLAAHF QRTTEETEGL TCQVCQMLLP 750
NQCSFCAHQR IHAHKSPYCC PECGVLCRSA YFQTHVKENC LHYARKVGYR 800
CIHCGVVHLT LALLKSHIQE RHCQVFHKCA FCPMAFKTAS STADHSATQH 850
PTQPHRPSQL IYKCSCEMVF NKKRHIQQHF YQNVSKTQVG VFKCPECPLL 900
FVQKPELMQH VKSTHGVPRN VDELSSLQSS ADTSSSRPGS RVPTEPPATS 950
VAARSSSLPS GRWGRPEAHR RVEARPRLRN TGWTCQECQE WVPDRESYVS 1000
HMKKSHGRTL KRYPCRQCEQ SFHTPNSLRK HIRNNHDTVK KFYTCGYCTE 1050
DSPSFPRPSL LESHISLMHG IRNPDLSQTS KVKPPGGHSP QVNHLKRPVS 1100
GVGDAPGTSN GATVSSTKRH KSLFQCAKCS FATDSGLEFQ SHIPQHQVDS 1150
STAQCLLCGL CYTSASSLSR HLFIVHKVRD QEEEEEEEAA AAEMAVEVAE 1200
PEEGSGEEVP METRENGLEE CAGEPLSADP EARRLLGPAP EDDGGHNDHS 1250
QPQASQDQDS HTLSPQV 1267
Length:1,267
Mass (Da):137,528
Last modified:October 14, 2008 - v2
Checksum:i5BD1CF586BB30E53
GO

Sequence cautioni

The sequence BAA13202.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti926 – 9261S → N.2 Publications
Corresponds to variant rs8182086 [ dbSNP | Ensembl ].
VAR_047033
Natural varianti1046 – 10461G → R in SCAR5. 1 Publication
VAR_064583

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D86966 mRNA. Translation: BAA13202.2. Different initiation.
CH471101 Genomic DNA. Translation: EAX01957.1.
BC094688 mRNA. Translation: AAH94688.1.
BC112232 mRNA. Translation: AAI12233.1.
BC112234 mRNA. Translation: AAI12235.1.
CCDSiCCDS32317.1.
RefSeqiNP_055445.2. NM_014630.2.
XP_005255053.1. XM_005254996.1.
UniGeneiHs.79347.

Genome annotation databases

EnsembliENST00000299927; ENSP00000299927; ENSG00000166716.
ENST00000560079; ENSP00000452877; ENSG00000166716.
GeneIDi9640.
KEGGihsa:9640.
UCSCiuc002bld.3. human.

Polymorphism databases

DMDMi209572705.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D86966 mRNA. Translation: BAA13202.2 . Different initiation.
CH471101 Genomic DNA. Translation: EAX01957.1 .
BC094688 mRNA. Translation: AAH94688.1 .
BC112232 mRNA. Translation: AAI12233.1 .
BC112234 mRNA. Translation: AAI12235.1 .
CCDSi CCDS32317.1.
RefSeqi NP_055445.2. NM_014630.2.
XP_005255053.1. XM_005254996.1.
UniGenei Hs.79347.

3D structure databases

ProteinModelPortali Q92610.
SMRi Q92610. Positions 583-642, 708-916, 976-1072, 1142-1182.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114999. 7 interactions.
IntActi Q92610. 6 interactions.
MINTi MINT-1197629.
STRINGi 9606.ENSP00000299927.

PTM databases

PhosphoSitei Q92610.

Polymorphism databases

DMDMi 209572705.

Proteomic databases

MaxQBi Q92610.
PaxDbi Q92610.
PRIDEi Q92610.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299927 ; ENSP00000299927 ; ENSG00000166716 .
ENST00000560079 ; ENSP00000452877 ; ENSG00000166716 .
GeneIDi 9640.
KEGGi hsa:9640.
UCSCi uc002bld.3. human.

Organism-specific databases

CTDi 9640.
GeneCardsi GC15P085291.
HGNCi HGNC:28986. ZNF592.
HPAi HPA020332.
HPA021600.
MIMi 606937. phenotype.
613624. gene.
neXtProti NX_Q92610.
Orphaneti 83472. CAMOS syndrome.
PharmGKBi PA134918837.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG270395.
HOGENOMi HOG000010306.
HOVERGENi HBG062228.
InParanoidi Q92610.
OMAi GLTCQVC.
OrthoDBi EOG7H1JKM.
PhylomeDBi Q92610.
TreeFami TF329009.

Miscellaneous databases

ChiTaRSi ZNF592. human.
GenomeRNAii 9640.
NextBioi 36187.
PROi Q92610.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q92610.
Bgeei Q92610.
CleanExi HS_ZNF592.
Genevestigatori Q92610.

Family and domain databases

InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view ]
Pfami PF00096. zf-C2H2. 2 hits.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 13 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-926.
    Tissue: Bone marrow.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-926.
    Tissue: Brain.
  4. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-142, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1250, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-145; SER-146; SER-573 AND SER-691, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-573; SER-691 AND SER-1089, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592."
    Nicolas E., Poitelon Y., Chouery E., Salem N., Levy N., Megarbane A., Delague V.
    Eur. J. Hum. Genet. 18:1107-1113(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SCAR5 ARG-1046, TISSUE SPECIFICITY.

Entry informationi

Entry nameiZN592_HUMAN
AccessioniPrimary (citable) accession number: Q92610
Secondary accession number(s): Q2M1T2, Q504Y9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: October 14, 2008
Last modified: September 3, 2014
This is version 125 of the entry and version 2 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 15
    Human chromosome 15: 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

External Data

Dasty 3

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