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Q8IZ20

- ZN683_HUMAN

UniProt

Q8IZ20 - ZN683_HUMAN

Protein

Zinc finger protein 683

Gene

ZNF683

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 3 (02 Sep 2008)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri322 – 34423C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri350 – 37223C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri398 – 42023C2H2-type 3; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri426 – 44823C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. natural killer cell differentiation Source: Ensembl
    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 683
    Gene namesi
    Name:ZNF683
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28495. ZNF683.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670484.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 524524Zinc finger protein 683PRO_0000234002Add
    BLAST

    Proteomic databases

    PaxDbiQ8IZ20.
    PRIDEiQ8IZ20.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IZ20.
    BgeeiQ8IZ20.
    CleanExiHS_ZNF683.
    GenevestigatoriQ8IZ20.

    Organism-specific databases

    HPAiHPA023865.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IZ20.
    SMRiQ8IZ20. Positions 322-489.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Contains 4 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri322 – 34423C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri350 – 37223C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri398 – 42023C2H2-type 3; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri426 – 44823C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000155807.
    InParanoidiQ8IZ20.
    OMAiFQCALCQ.
    OrthoDBiEOG7VMP5D.
    PhylomeDBiQ8IZ20.
    TreeFamiTF316545.

    Family and domain databases

    Gene3Di3.30.160.60. 4 hits.
    InterProiIPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 4 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
    PS50157. ZINC_FINGER_C2H2_2. 4 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IZ20-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV    50
    DAHGPSCASW LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ 100
    EDALSMKHEP PGLQASSTDD KKFTVKYPQN KDKLGKQPER AGEGAPCPAF 150
    SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS ISKELPFLLH AFYPGYPLLL 200
    PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV NELGHPSARW 250
    ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL 300
    SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF 350
    QCALCQKSFT QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER 400
    EVCHKRFSSS SNLKTHLRLH SGARPFQCSV CRSRFTQHIH LKLHHRLHAP 450
    QPCGLVHTQL PLASLACLAQ WHQGALDLMA VASEKHMGYD IDEVKVSSTS 500
    QGKARAVSLS SAGTPLVMGQ DQNN 524
    Length:524
    Mass (Da):56,905
    Last modified:September 2, 2008 - v3
    Checksum:iF6D800F2A8EE829A
    GO
    Isoform 2 (identifier: Q8IZ20-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         382-401: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:504
    Mass (Da):54,343
    Checksum:iF98ABF65955604E8
    GO

    Sequence cautioni

    The sequence AAH28731.2 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH29505.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI15857.2 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI15858.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221G → V.
    Corresponds to variant rs35040247 [ dbSNP | Ensembl ].
    VAR_057442
    Natural varianti48 – 481D → G.
    Corresponds to variant rs10794532 [ dbSNP | Ensembl ].
    VAR_057443
    Natural varianti53 – 531H → R.
    Corresponds to variant rs10794531 [ dbSNP | Ensembl ].
    VAR_057444
    Natural varianti204 – 2041H → N.1 Publication
    Corresponds to variant rs17852672 [ dbSNP | Ensembl ].
    VAR_026155
    Natural varianti288 – 2881R → L.
    Corresponds to variant rs11247933 [ dbSNP | Ensembl ].
    VAR_057445

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei382 – 40120Missing in isoform 2. 1 PublicationVSP_018167Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL451139 Genomic DNA. Translation: CAI15853.2.
    AL451139 Genomic DNA. Translation: CAI15854.2.
    AL451139 Genomic DNA. Translation: CAI15855.2.
    AL451139 Genomic DNA. Translation: CAI15856.2.
    AL451139 Genomic DNA. Translation: CAI15857.2. Different initiation.
    AL451139 Genomic DNA. Translation: CAI15858.2. Different initiation.
    BC028731 mRNA. Translation: AAH28731.2. Different initiation.
    BC029505 mRNA. Translation: AAH29505.1. Different initiation.
    CCDSiCCDS279.2. [Q8IZ20-2]
    RefSeqiNP_001108231.1. NM_001114759.1. [Q8IZ20-2]
    NP_775845.2. NM_173574.2. [Q8IZ20-2]
    XP_005245887.1. XM_005245830.1. [Q8IZ20-1]
    XP_005245888.1. XM_005245831.1. [Q8IZ20-1]
    XP_005245889.1. XM_005245832.1. [Q8IZ20-1]
    XP_006710619.1. XM_006710556.1. [Q8IZ20-1]
    XP_006710620.1. XM_006710557.1. [Q8IZ20-1]
    UniGeneiHs.353208.

    Genome annotation databases

    EnsembliENST00000349618; ENSP00000344095; ENSG00000176083. [Q8IZ20-2]
    ENST00000403843; ENSP00000384782; ENSG00000176083. [Q8IZ20-1]
    ENST00000436292; ENSP00000388792; ENSG00000176083. [Q8IZ20-1]
    GeneIDi257101.
    KEGGihsa:257101.
    UCSCiuc001bmg.1. human. [Q8IZ20-1]
    uc001bmh.1. human. [Q8IZ20-2]

    Polymorphism databases

    DMDMi205371859.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL451139 Genomic DNA. Translation: CAI15853.2 .
    AL451139 Genomic DNA. Translation: CAI15854.2 .
    AL451139 Genomic DNA. Translation: CAI15855.2 .
    AL451139 Genomic DNA. Translation: CAI15856.2 .
    AL451139 Genomic DNA. Translation: CAI15857.2 . Different initiation.
    AL451139 Genomic DNA. Translation: CAI15858.2 . Different initiation.
    BC028731 mRNA. Translation: AAH28731.2 . Different initiation.
    BC029505 mRNA. Translation: AAH29505.1 . Different initiation.
    CCDSi CCDS279.2. [Q8IZ20-2 ]
    RefSeqi NP_001108231.1. NM_001114759.1. [Q8IZ20-2 ]
    NP_775845.2. NM_173574.2. [Q8IZ20-2 ]
    XP_005245887.1. XM_005245830.1. [Q8IZ20-1 ]
    XP_005245888.1. XM_005245831.1. [Q8IZ20-1 ]
    XP_005245889.1. XM_005245832.1. [Q8IZ20-1 ]
    XP_006710619.1. XM_006710556.1. [Q8IZ20-1 ]
    XP_006710620.1. XM_006710557.1. [Q8IZ20-1 ]
    UniGenei Hs.353208.

    3D structure databases

    ProteinModelPortali Q8IZ20.
    SMRi Q8IZ20. Positions 322-489.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 205371859.

    Proteomic databases

    PaxDbi Q8IZ20.
    PRIDEi Q8IZ20.

    Protocols and materials databases

    DNASUi 257101.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000349618 ; ENSP00000344095 ; ENSG00000176083 . [Q8IZ20-2 ]
    ENST00000403843 ; ENSP00000384782 ; ENSG00000176083 . [Q8IZ20-1 ]
    ENST00000436292 ; ENSP00000388792 ; ENSG00000176083 . [Q8IZ20-1 ]
    GeneIDi 257101.
    KEGGi hsa:257101.
    UCSCi uc001bmg.1. human. [Q8IZ20-1 ]
    uc001bmh.1. human. [Q8IZ20-2 ]

    Organism-specific databases

    CTDi 257101.
    GeneCardsi GC01M026688.
    HGNCi HGNC:28495. ZNF683.
    HPAi HPA023865.
    neXtProti NX_Q8IZ20.
    PharmGKBi PA142670484.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000155807.
    InParanoidi Q8IZ20.
    OMAi FQCALCQ.
    OrthoDBi EOG7VMP5D.
    PhylomeDBi Q8IZ20.
    TreeFami TF316545.

    Miscellaneous databases

    GenomeRNAii 257101.
    NextBioi 92926.
    PROi Q8IZ20.

    Gene expression databases

    ArrayExpressi Q8IZ20.
    Bgeei Q8IZ20.
    CleanExi HS_ZNF683.
    Genevestigatori Q8IZ20.

    Family and domain databases

    Gene3Di 3.30.160.60. 4 hits.
    InterProi IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 4 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 3 hits.
    PS50157. ZINC_FINGER_C2H2_2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] (ISOFORMS 1 AND 2), VARIANT ASN-204.
      Tissue: Testis.

    Entry informationi

    Entry nameiZN683_HUMAN
    AccessioniPrimary (citable) accession number: Q8IZ20
    Secondary accession number(s): Q5T141
    , Q5T146, Q5T147, Q5T149, Q8NEN4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2006
    Last sequence update: September 2, 2008
    Last modified: October 1, 2014
    This is version 107 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 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3