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Q92610

- ZN592_HUMAN

UniProt

Q92610 - ZN592_HUMAN

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Protein

Zinc finger protein 592

Gene

ZNF592

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; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri615 – 63925C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri711 – 73121C2H2-type 3; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri740 – 76425C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri768 – 79023C2H2-type 5; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri799 – 82224C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri827 – 85024C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri892 – 91524C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri983 – 100624C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1013 – 103624C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1043 – 106927C2H2-type 11; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1124 – 114623C2H2-type 12; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1153 – 117624C2H2-type 13PROSITE-ProRule annotationAdd
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 Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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 592PRO_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

BgeeiQ92610.
CleanExiHS_ZNF592.
ExpressionAtlasiQ92610. baseline and differential.
GenevestigatoriQ92610.

Organism-specific databases

HPAiHPA020332.
HPA021600.

Interactioni

Protein-protein interaction databases

BioGridi114999. 9 interactions.
IntActiQ92610. 7 interactions.
MINTiMINT-1197629.
STRINGi9606.ENSP00000299927.

Structurei

3D structure databases

ProteinModelPortaliQ92610.
SMRiQ92610. Positions 605-642, 729-805, 976-1072, 1148-1182.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 13 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri587 – 61226C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri615 – 63925C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri711 – 73121C2H2-type 3; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri740 – 76425C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri768 – 79023C2H2-type 5; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri799 – 82224C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri827 – 85024C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri892 – 91524C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri983 – 100624C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1013 – 103624C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1043 – 106927C2H2-type 11; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1124 – 114623C2H2-type 12; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1153 – 117624C2H2-type 13PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG270395.
GeneTreeiENSGT00530000063261.
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

        10         20         30         40         50
MGDMKTPDFD DLLAAFDIPD PTSLDAKEAI QTPSEENESP LKPPGICMDE
60 70 80 90 100
SVSLSHSGSA PDVPAVSVIV KNTSRQESFE AEKDHITPSL LHNGFRGSDL
110 120 130 140 150
PPDPHNCGKF DSTFMNGDSA RSFPGKLEPP KSEPLPTFNQ FSPISSPEPE
160 170 180 190 200
DPIKDNGFGI KPKHSDSYFP PPLGCGAVGG PVLEALAKFP VPELHMFDHF
210 220 230 240 250
CKKEPKPEPL PLGSQQEHEQ SGQNTVEPHK DPDATRFFGE ALEFNSHPSN
260 270 280 290 300
SIGESKGLAR ELGTCSSVPP RQRLKPAHSK LSSCVAALVA LQAKRVASVT
310 320 330 340 350
KEDQPGHTKD LSGPTKESSK GSPKMPKSPK SPRSPLEATR KSIKPSDSPR
360 370 380 390 400
SICSDSSSKG SPSVAASSPP AIPKVRIKTI KTSSGEIKRT VTRILPDPDD
410 420 430 440 450
PSKSPVGSPL GSAIAEAPSE MPGDEVPVEE HFPEAGTNSG SPQGARKGDE
460 470 480 490 500
SMTKASDSSS PSCSSGPRVP KGAAPGSQTG KKQQSTALQA STLAPANLLP
510 520 530 540 550
KAVHLANLNL VPHSVAASVT AKSSVQRRSQ PQLTQMSVPL VHQVKKAAPL
560 570 580 590 600
IVEVFNKVLH SSNPVPLYAP NLSPPADSRI HVPASGYCCL ECGDAFALEK
610 620 630 640 650
SLSQHYGRRS VHIEVLCTLC SKTLLFFNKC SLLRHARDHK SKGLVMQCSQ
660 670 680 690 700
LLVKPISADQ MFVSAPVNST APAAPAPSSS PKHGLTSGSA SPPPPALPLY
710 720 730 740 750
PDPVRLIRYS IKCLECHKQM RDYMVLAAHF QRTTEETEGL TCQVCQMLLP
760 770 780 790 800
NQCSFCAHQR IHAHKSPYCC PECGVLCRSA YFQTHVKENC LHYARKVGYR
810 820 830 840 850
CIHCGVVHLT LALLKSHIQE RHCQVFHKCA FCPMAFKTAS STADHSATQH
860 870 880 890 900
PTQPHRPSQL IYKCSCEMVF NKKRHIQQHF YQNVSKTQVG VFKCPECPLL
910 920 930 940 950
FVQKPELMQH VKSTHGVPRN VDELSSLQSS ADTSSSRPGS RVPTEPPATS
960 970 980 990 1000
VAARSSSLPS GRWGRPEAHR RVEARPRLRN TGWTCQECQE WVPDRESYVS
1010 1020 1030 1040 1050
HMKKSHGRTL KRYPCRQCEQ SFHTPNSLRK HIRNNHDTVK KFYTCGYCTE
1060 1070 1080 1090 1100
DSPSFPRPSL LESHISLMHG IRNPDLSQTS KVKPPGGHSP QVNHLKRPVS
1110 1120 1130 1140 1150
GVGDAPGTSN GATVSSTKRH KSLFQCAKCS FATDSGLEFQ SHIPQHQVDS
1160 1170 1180 1190 1200
STAQCLLCGL CYTSASSLSR HLFIVHKVRD QEEEEEEEAA AAEMAVEVAE
1210 1220 1230 1240 1250
PEEGSGEEVP METRENGLEE CAGEPLSADP EARRLLGPAP EDDGGHNDHS
1260
QPQASQDQDS HTLSPQV
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.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 605-642, 729-805, 976-1072, 1148-1182.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114999. 9 interactions.
IntActi Q92610. 7 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.
GeneTreei ENSGT00530000063261.
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

Bgeei Q92610.
CleanExi HS_ZNF592.
ExpressionAtlasi Q92610. baseline and differential.
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: November 26, 2014
This is version 128 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