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Q5VIY5

- ZN468_HUMAN

UniProt

Q5VIY5 - ZN468_HUMAN

Protein

Zinc finger protein 468

Gene

ZNF468

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (07 Dec 2004)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri215 – 23723C2H2-type 1; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri243 – 26523C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri271 – 29323C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri299 – 32123C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri327 – 34923C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri355 – 37723C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri383 – 40523C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri411 – 43323C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri439 – 46123C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri467 – 48923C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri495 – 51723C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_12627. Generic Transcription Pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein 468
    Gene namesi
    Name:ZNF468
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:33105. ZNF468.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162410166.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 522522Zinc finger protein 468PRO_0000280412Add
    BLAST

    Proteomic databases

    MaxQBiQ5VIY5.
    PaxDbiQ5VIY5.
    PRIDEiQ5VIY5.

    PTM databases

    PhosphoSiteiQ5VIY5.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 2 are highly expressed in placenta, pancreas, and small intestine. Lower expression in colon, ovary, testis, prostate, thymus, spleen, kidney, and liver. No expression detected in heart and brain.1 Publication

    Gene expression databases

    ArrayExpressiQ5VIY5.
    BgeeiQ5VIY5.
    CleanExiHS_ZNF468.
    GenevestigatoriQ5VIY5.

    Interactioni

    Protein-protein interaction databases

    BioGridi124696. 3 interactions.
    IntActiQ5VIY5. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5VIY5.
    SMRiQ5VIY5. Positions 8-47, 166-522.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini8 – 8073KRABPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 11 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 KRAB domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri215 – 23723C2H2-type 1; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri243 – 26523C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri271 – 29323C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri299 – 32123C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri327 – 34923C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri355 – 37723C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri383 – 40523C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri411 – 43323C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri439 – 46123C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri467 – 48923C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri495 – 51723C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000234617.
    HOVERGENiHBG018163.
    InParanoidiQ5VIY5.
    KOiK09228.
    OMAiLPEPHIF.
    OrthoDBiEOG7KSX7Q.
    PhylomeDBiQ5VIY5.
    TreeFamiTF341892.

    Family and domain databases

    Gene3Di3.30.160.60. 11 hits.
    InterProiIPR001909. Krueppel-associated_box.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF01352. KRAB. 1 hit.
    [Graphical view]
    SMARTiSM00349. KRAB. 1 hit.
    SM00355. ZnF_C2H2. 11 hits.
    [Graphical view]
    SUPFAMiSSF109640. SSF109640. 1 hit.
    PROSITEiPS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 10 hits.
    PS50157. ZINC_FINGER_C2H2_2. 11 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5VIY5-1) [UniParc]FASTAAdd to Basket

    Also known as: ZNF468.1

    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

    MALPQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDIS    50
    SKCMLKTLSS TGQGNTEVIH TGTLHRQASH HIGEFCFHEI EKDIHGFEFQ 100
    WKEDETNGHA APMTEIKELA GSTGQHDQRH AGNKRIKDQL GSSFHLHLPE 150
    PHIFQSEGKI GNQVEKSINN ASSVSTSQRI CCRPKTHISN KYGNNSLHSS 200
    LLTQKWEVHM REKSFECIQS FKSFNCSSLL KKHQIIHLEE KQCKCDVCGK 250
    VFNQKRYLAC HRRCHTGEKP YKCNECGKTF GHNSSLFIHK ALHTGEKPYE 300
    CEECDKVFSR KSHLERHKRI HTGEKPYKCK VCDEAFAYNS YLAKHTILHT 350
    GEKPYTCNEC GKVFNRLSTL ARHHRLHTGE KPYKCEECDK VFSRKSHLER 400
    HRRIHSGEKP YKCEECCKVF SRKSNLERHR RIHTGEKPYK CKVCDKAFQR 450
    DSHLAQHQRV HTGEKPYKCN ECGKTFGQTS SLIIHRRLHT GEKPYKCNEC 500
    GKTFSQMSSL VYHHRLHSGE KP 522
    Length:522
    Mass (Da):60,573
    Last modified:December 7, 2004 - v1
    Checksum:iC18A5B24C5CB22F7
    GO
    Isoform 2 (identifier: Q5VIY5-2) [UniParc]FASTAAdd to Basket

    Also known as: ZNF468.2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-53: Missing.

    Show »
    Length:469
    Mass (Da):54,383
    Checksum:i59B4880CF98C426E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti253 – 2531N → G in CAH18233. (PubMed:17974005)Curated
    Sequence conflicti482 – 4821L → P in CAI56747. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti374 – 3741H → R.
    Corresponds to variant rs12462929 [ dbSNP | Ensembl ].
    VAR_031141
    Natural varianti477 – 4771G → R.
    Corresponds to variant rs10419826 [ dbSNP | Ensembl ].
    VAR_031142

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5353Missing in isoform 2. 1 PublicationVSP_023659Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY442330 mRNA. Translation: AAS01603.1.
    AY442331 mRNA. Translation: AAS01604.1.
    CR749381 mRNA. Translation: CAH18233.1.
    CR936599 mRNA. Translation: CAI56747.1.
    AC008813 Genomic DNA. No translation available.
    CH471135 Genomic DNA. Translation: EAW72100.1.
    CCDSiCCDS33094.1. [Q5VIY5-1]
    RefSeqiNP_001008801.1. NM_001008801.1. [Q5VIY5-1]
    NP_001264049.1. NM_001277120.1.
    XP_006723523.1. XM_006723460.1. [Q5VIY5-2]
    UniGeneiHs.467223.

    Genome annotation databases

    EnsembliENST00000390651; ENSP00000445669; ENSG00000204604. [Q5VIY5-2]
    ENST00000396409; ENSP00000379690; ENSG00000204604. [Q5VIY5-2]
    ENST00000595646; ENSP00000470381; ENSG00000204604. [Q5VIY5-1]
    GeneIDi90333.
    KEGGihsa:90333.
    UCSCiuc002qaf.3. human. [Q5VIY5-1]

    Polymorphism databases

    DMDMi74756746.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY442330 mRNA. Translation: AAS01603.1 .
    AY442331 mRNA. Translation: AAS01604.1 .
    CR749381 mRNA. Translation: CAH18233.1 .
    CR936599 mRNA. Translation: CAI56747.1 .
    AC008813 Genomic DNA. No translation available.
    CH471135 Genomic DNA. Translation: EAW72100.1 .
    CCDSi CCDS33094.1. [Q5VIY5-1 ]
    RefSeqi NP_001008801.1. NM_001008801.1. [Q5VIY5-1 ]
    NP_001264049.1. NM_001277120.1.
    XP_006723523.1. XM_006723460.1. [Q5VIY5-2 ]
    UniGenei Hs.467223.

    3D structure databases

    ProteinModelPortali Q5VIY5.
    SMRi Q5VIY5. Positions 8-47, 166-522.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124696. 3 interactions.
    IntActi Q5VIY5. 2 interactions.

    PTM databases

    PhosphoSitei Q5VIY5.

    Polymorphism databases

    DMDMi 74756746.

    Proteomic databases

    MaxQBi Q5VIY5.
    PaxDbi Q5VIY5.
    PRIDEi Q5VIY5.

    Protocols and materials databases

    DNASUi 90333.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000390651 ; ENSP00000445669 ; ENSG00000204604 . [Q5VIY5-2 ]
    ENST00000396409 ; ENSP00000379690 ; ENSG00000204604 . [Q5VIY5-2 ]
    ENST00000595646 ; ENSP00000470381 ; ENSG00000204604 . [Q5VIY5-1 ]
    GeneIDi 90333.
    KEGGi hsa:90333.
    UCSCi uc002qaf.3. human. [Q5VIY5-1 ]

    Organism-specific databases

    CTDi 90333.
    GeneCardsi GC19M053341.
    HGNCi HGNC:33105. ZNF468.
    neXtProti NX_Q5VIY5.
    PharmGKBi PA162410166.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000234617.
    HOVERGENi HBG018163.
    InParanoidi Q5VIY5.
    KOi K09228.
    OMAi LPEPHIF.
    OrthoDBi EOG7KSX7Q.
    PhylomeDBi Q5VIY5.
    TreeFami TF341892.

    Enzyme and pathway databases

    Reactomei REACT_12627. Generic Transcription Pathway.

    Miscellaneous databases

    GenomeRNAii 90333.
    NextBioi 76672.
    PROi Q5VIY5.

    Gene expression databases

    ArrayExpressi Q5VIY5.
    Bgeei Q5VIY5.
    CleanExi HS_ZNF468.
    Genevestigatori Q5VIY5.

    Family and domain databases

    Gene3Di 3.30.160.60. 11 hits.
    InterProi IPR001909. Krueppel-associated_box.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF01352. KRAB. 1 hit.
    [Graphical view ]
    SMARTi SM00349. KRAB. 1 hit.
    SM00355. ZnF_C2H2. 11 hits.
    [Graphical view ]
    SUPFAMi SSF109640. SSF109640. 1 hit.
    PROSITEi PS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 10 hits.
    PS50157. ZINC_FINGER_C2H2_2. 11 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel zinc finger gene ZNF468 with two co-expressional splice variants, ZNF468.1 and ZNF468.2."
      Sun L., Gu S., Li N., Zheng D., Sun Y., Li D., Ji C., Ying K., Xie Y., Mao Y.
      Biochem. Genet. 43:271-286(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Colon carcinoma and Liver.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiZN468_HUMAN
    AccessioniPrimary (citable) accession number: Q5VIY5
    Secondary accession number(s): A8MV20
    , Q5CZB8, Q5VIY4, Q68DI7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: December 7, 2004
    Last modified: October 1, 2014
    This is version 98 of the entry and version 1 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 19
      Human chromosome 19: 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