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Q92610

- ZN592_HUMAN

UniProt

Q92610 - ZN592_HUMAN

Protein

Zinc finger protein 592

Gene

ZNF592

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (14 Oct 2008)
      Previous versions | rss
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    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

    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-SubCell

    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

    ArrayExpressiQ92610.
    BgeeiQ92610.
    CleanExiHS_ZNF592.
    GenevestigatoriQ92610.

    Organism-specific databases

    HPAiHPA020332.
    HPA021600.

    Interactioni

    Protein-protein interaction databases

    BioGridi114999. 8 interactions.
    IntActiQ92610. 6 interactions.
    MINTiMINT-1197629.
    STRINGi9606.ENSP00000299927.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92610.
    SMRiQ92610. Positions 583-642, 708-916, 976-1072, 1142-1182.
    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.
    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. 8 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

    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: October 1, 2014
    This is version 126 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