Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q92610 (ZN592_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein 592
Gene names
Name:ZNF592
Synonyms:KIAA0211
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1267 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in transcriptional regulation.

Subcellular location

Nucleus Probable.

Tissue specificity

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. Ref.10

Involvement in disease

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. Ref.10

Sequence similarities

Belongs to the krueppel C2H2-type zinc-finger protein family.

Contains 13 C2H2-type zinc fingers.

Sequence caution

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

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Neurodegeneration
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12671267Zinc finger protein 592
PRO_0000047682

Regions

Zinc finger587 – 61226C2H2-type 1; atypical
Zinc finger615 – 63925C2H2-type 2; atypical
Zinc finger711 – 73121C2H2-type 3; degenerate
Zinc finger740 – 76425C2H2-type 4
Zinc finger768 – 79023C2H2-type 5; atypical
Zinc finger799 – 82224C2H2-type 6
Zinc finger827 – 85024C2H2-type 7
Zinc finger892 – 91524C2H2-type 8
Zinc finger983 – 100624C2H2-type 9
Zinc finger1013 – 103624C2H2-type 10
Zinc finger1043 – 106927C2H2-type 11; atypical
Zinc finger1124 – 114623C2H2-type 12; atypical
Zinc finger1153 – 117624C2H2-type 13

Amino acid modifications

Modified residue1421Phosphoserine Ref.4
Modified residue1451Phosphoserine Ref.6
Modified residue1461Phosphoserine Ref.6
Modified residue5731Phosphoserine Ref.6 Ref.8
Modified residue6911Phosphoserine Ref.6 Ref.8
Modified residue10891Phosphoserine Ref.8
Modified residue12501Phosphoserine Ref.5

Natural variations

Natural variant9261S → N. Ref.1 Ref.3
Corresponds to variant rs8182086 [ dbSNP | Ensembl ].
VAR_047033
Natural variant10461G → R in SCAR5. Ref.10
VAR_064583

Sequences

Sequence LengthMass (Da)Tools
Q92610 [UniParc].

Last modified October 14, 2008. Version 2.
Checksum: 5BD1CF586BB30E53

FASTA1,267137,528
        10         20         30         40         50         60 
MGDMKTPDFD DLLAAFDIPD PTSLDAKEAI QTPSEENESP LKPPGICMDE SVSLSHSGSA 

        70         80         90        100        110        120 
PDVPAVSVIV KNTSRQESFE AEKDHITPSL LHNGFRGSDL PPDPHNCGKF DSTFMNGDSA 

       130        140        150        160        170        180 
RSFPGKLEPP KSEPLPTFNQ FSPISSPEPE DPIKDNGFGI KPKHSDSYFP PPLGCGAVGG 

       190        200        210        220        230        240 
PVLEALAKFP VPELHMFDHF CKKEPKPEPL PLGSQQEHEQ SGQNTVEPHK DPDATRFFGE 

       250        260        270        280        290        300 
ALEFNSHPSN SIGESKGLAR ELGTCSSVPP RQRLKPAHSK LSSCVAALVA LQAKRVASVT 

       310        320        330        340        350        360 
KEDQPGHTKD LSGPTKESSK GSPKMPKSPK SPRSPLEATR KSIKPSDSPR SICSDSSSKG 

       370        380        390        400        410        420 
SPSVAASSPP AIPKVRIKTI KTSSGEIKRT VTRILPDPDD PSKSPVGSPL GSAIAEAPSE 

       430        440        450        460        470        480 
MPGDEVPVEE HFPEAGTNSG SPQGARKGDE SMTKASDSSS PSCSSGPRVP KGAAPGSQTG 

       490        500        510        520        530        540 
KKQQSTALQA STLAPANLLP KAVHLANLNL VPHSVAASVT AKSSVQRRSQ PQLTQMSVPL 

       550        560        570        580        590        600 
VHQVKKAAPL IVEVFNKVLH SSNPVPLYAP NLSPPADSRI HVPASGYCCL ECGDAFALEK 

       610        620        630        640        650        660 
SLSQHYGRRS VHIEVLCTLC SKTLLFFNKC SLLRHARDHK SKGLVMQCSQ LLVKPISADQ 

       670        680        690        700        710        720 
MFVSAPVNST APAAPAPSSS PKHGLTSGSA SPPPPALPLY PDPVRLIRYS IKCLECHKQM 

       730        740        750        760        770        780 
RDYMVLAAHF QRTTEETEGL TCQVCQMLLP NQCSFCAHQR IHAHKSPYCC PECGVLCRSA 

       790        800        810        820        830        840 
YFQTHVKENC LHYARKVGYR CIHCGVVHLT LALLKSHIQE RHCQVFHKCA FCPMAFKTAS 

       850        860        870        880        890        900 
STADHSATQH PTQPHRPSQL IYKCSCEMVF NKKRHIQQHF YQNVSKTQVG VFKCPECPLL 

       910        920        930        940        950        960 
FVQKPELMQH VKSTHGVPRN VDELSSLQSS ADTSSSRPGS RVPTEPPATS VAARSSSLPS 

       970        980        990       1000       1010       1020 
GRWGRPEAHR RVEARPRLRN TGWTCQECQE WVPDRESYVS HMKKSHGRTL KRYPCRQCEQ 

      1030       1040       1050       1060       1070       1080 
SFHTPNSLRK HIRNNHDTVK KFYTCGYCTE DSPSFPRPSL LESHISLMHG IRNPDLSQTS 

      1090       1100       1110       1120       1130       1140 
KVKPPGGHSP QVNHLKRPVS GVGDAPGTSN GATVSSTKRH KSLFQCAKCS FATDSGLEFQ 

      1150       1160       1170       1180       1190       1200 
SHIPQHQVDS STAQCLLCGL CYTSASSLSR HLFIVHKVRD QEEEEEEEAA AAEMAVEVAE 

      1210       1220       1230       1240       1250       1260 
PEEGSGEEVP METRENGLEE CAGEPLSADP EARRLLGPAP EDDGGHNDHS QPQASQDQDS 


HTLSPQV 

« Hide

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1250, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32317.1.
RefSeqNP_055445.2. NM_014630.2.
XP_005255053.1. XM_005254996.1.
UniGeneHs.79347.

3D structure databases

ProteinModelPortalQ92610.
SMRQ92610. Positions 583-642, 708-916, 976-1072, 1142-1182.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114999. 8 interactions.
IntActQ92610. 6 interactions.
MINTMINT-1197629.
STRING9606.ENSP00000299927.

PTM databases

PhosphoSiteQ92610.

Polymorphism databases

DMDM209572705.

Proteomic databases

MaxQBQ92610.
PaxDbQ92610.
PRIDEQ92610.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299927; ENSP00000299927; ENSG00000166716.
ENST00000560079; ENSP00000452877; ENSG00000166716.
GeneID9640.
KEGGhsa:9640.
UCSCuc002bld.3. human.

Organism-specific databases

CTD9640.
GeneCardsGC15P085291.
HGNCHGNC:28986. ZNF592.
HPAHPA020332.
HPA021600.
MIM606937. phenotype.
613624. gene.
neXtProtNX_Q92610.
Orphanet83472. CAMOS syndrome.
PharmGKBPA134918837.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG270395.
HOGENOMHOG000010306.
HOVERGENHBG062228.
InParanoidQ92610.
OMAGLTCQVC.
OrthoDBEOG7H1JKM.
PhylomeDBQ92610.
TreeFamTF329009.

Gene expression databases

ArrayExpressQ92610.
BgeeQ92610.
CleanExHS_ZNF592.
GenevestigatorQ92610.

Family and domain databases

InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PfamPF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 13 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZNF592. human.
GenomeRNAi9640.
NextBio36187.
PROQ92610.
SOURCESearch...

Entry information

Entry nameZN592_HUMAN
AccessionPrimary (citable) accession number: Q92610
Secondary accession number(s): Q2M1T2, Q504Y9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: October 14, 2008
Last modified: July 9, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM