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Q96SR6

- ZN382_HUMAN

UniProt

Q96SR6 - ZN382_HUMAN

Protein

Zinc finger protein 382

Gene

ZNF382

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Functions as a sequence-specific transcriptional repressor.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri212 – 23423C2H2-type 1; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri296 – 31823C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri324 – 34623C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri352 – 37423C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri380 – 40223C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri408 – 43023C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri436 – 45823C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri464 – 48623C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri492 – 51423C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri520 – 54223C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

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

    Keywords - Molecular functioni

    Repressor

    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 382
    Alternative name(s):
    KRAB/zinc finger suppressor protein 1
    Short name:
    KS1
    Multiple zinc finger and krueppel-associated box protein KS1
    Gene namesi
    Name:ZNF382
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:17409. ZNF382.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134869965.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 550550Zinc finger protein 382PRO_0000047549Add
    BLAST

    Proteomic databases

    PaxDbiQ96SR6.
    PRIDEiQ96SR6.

    PTM databases

    PhosphoSiteiQ96SR6.

    Expressioni

    Tissue specificityi

    Specifically expressed in heart with a weaker expression also detected in skeletal muscle.1 Publication

    Developmental stagei

    Primarily detected in 34 day-old embryos. Widely expressed at different levels during embryonic development where it is predominantly expressed in cerebellum, kidney, and cerebrum and to a lesser extent in lung, heart, skeletal muscle, tongue, and adrenal gland.1 Publication

    Gene expression databases

    ArrayExpressiQ96SR6.
    BgeeiQ96SR6.
    CleanExiHS_ZNF382.
    GenevestigatoriQ96SR6.

    Organism-specific databases

    HPAiHPA049259.

    Interactioni

    Subunit structurei

    Interacts with TRIM28; enhances the transcriptional repressor activity.By similarity

    Protein-protein interaction databases

    BioGridi124348. 3 interactions.
    STRINGi9606.ENSP00000292928.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96SR6.
    SMRiQ96SR6. Positions 7-49, 210-542.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini7 – 7872KRABPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 105105Mediates interaction with TRIM28By similarityAdd
    BLAST
    Regioni5 – 4642Represses transcriptionBy similarityAdd
    BLAST
    Regioni70 – 211142Represses transcriptionBy similarityAdd
    BLAST
    Regioni296 – 550255Required for transcriptional repression activity; probably mediates sequence-specific DNA-bindingBy similarityAdd
    BLAST

    Sequence similaritiesi

    Contains 10 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 KRAB domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri212 – 23423C2H2-type 1; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri296 – 31823C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri324 – 34623C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri352 – 37423C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri380 – 40223C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri408 – 43023C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri436 – 45823C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri464 – 48623C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri492 – 51423C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri520 – 54223C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000234617.
    HOVERGENiHBG018163.
    InParanoidiQ96SR6.
    KOiK09228.
    OMAiHNECEKS.
    OrthoDBiEOG7KSX7Q.
    PhylomeDBiQ96SR6.
    TreeFamiTF337898.

    Family and domain databases

    Gene3Di3.30.160.60. 10 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. 10 hits.
    [Graphical view]
    SUPFAMiSSF109640. SSF109640. 1 hit.
    PROSITEiPS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 9 hits.
    PS50157. ZINC_FINGER_C2H2_2. 10 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96SR6-1) [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

    MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM    50
    AKPDMIRKLE QGEELWTQRI FPSYSYLEED GKTEDVLVKF KEYQDRHSRP 100
    LIFINHKKLI KERSNIYGKT FTLGKNRISK TILCEYKPDG KVLKNISELV 150
    IRNISPIKEK FGDSTGWEKS LLNTKHEKIH PAVNLHKQTE RVLSGKQELI 200
    QHQKVQAPEQ PFDHNECEKS FLMKGMLFTH TRAHRGERTF EYNKDGIAFI 250
    EKSSLSVHPS NLMEKKPSAY NKYGKFLCRK PVFIMPQRPQ TEEKPFHCPY 300
    CGNNFRRKSY LIEHQRIHTG EKPYVCNQCG KAFRQKTALT LHEKTHIEGK 350
    PFICIDCGKS FRQKATLTRH HKTHTGEKAY ECPQCGSAFR KKSYLIDHQR 400
    THTGEKPYQC NECGKAFIQK TTLTVHQRTH TGEKPYICNE CGKSFCQKTT 450
    LTLHQRIHTG EKPYICNECG KSFRQKAILT VHHRIHTGEK SNGCPQCGKA 500
    FSRKSNLIRH QKTHTGEKPY ECKQCGKFFS CKSNLIVHQK THKVETTGIQ 550
    Length:550
    Mass (Da):64,010
    Last modified:November 30, 2010 - v3
    Checksum:i6D0706EA069DDD0B
    GO
    Isoform 2 (identifier: Q96SR6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-3: MPL → MS

    Show »
    Length:549
    Mass (Da):63,886
    Checksum:i7E1ECFED0C1D8816
    GO
    Isoform 3 (identifier: Q96SR6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         78-78: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:549
    Mass (Da):63,880
    Checksum:i6CF371E4DF3F660E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti129 – 1302Missing in AAM48246. (PubMed:12459182)Curated
    Sequence conflicti129 – 1302Missing in AAO72308. 1 PublicationCurated
    Sequence conflicti129 – 1302Missing in BAB55217. (PubMed:14702039)Curated
    Sequence conflicti547 – 5471T → M in AAI32676. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti168 – 1681E → G.2 Publications
    Corresponds to variant rs3108171 [ dbSNP | Ensembl ].
    VAR_054226

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 33MPL → MS in isoform 2. 1 PublicationVSP_036224
    Alternative sequencei78 – 781Missing in isoform 3. 1 PublicationVSP_036225

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF513816 mRNA. Translation: AAM48246.1.
    AY227449 mRNA. Translation: AAO72308.1.
    AK027592 mRNA. Translation: BAB55217.1.
    AL832265 mRNA. Translation: CAI46159.1.
    AC074138 Genomic DNA. No translation available.
    AC092295 Genomic DNA. No translation available.
    BC132675 mRNA. Translation: AAI32676.2.
    CCDSiCCDS33004.1. [Q96SR6-1]
    CCDS58659.1. [Q96SR6-2]
    RefSeqiNP_001243767.1. NM_001256838.1. [Q96SR6-2]
    NP_116214.2. NM_032825.4. [Q96SR6-1]
    UniGeneiHs.631591.

    Genome annotation databases

    EnsembliENST00000292928; ENSP00000292928; ENSG00000161298. [Q96SR6-1]
    ENST00000435416; ENSP00000410113; ENSG00000161298. [Q96SR6-3]
    ENST00000439428; ENSP00000407593; ENSG00000161298. [Q96SR6-2]
    GeneIDi84911.
    KEGGihsa:84911.
    UCSCiuc002oek.4. human. [Q96SR6-1]
    uc002oel.3. human. [Q96SR6-3]
    uc010efb.4. human. [Q96SR6-2]

    Polymorphism databases

    DMDMi313104256.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF513816 mRNA. Translation: AAM48246.1 .
    AY227449 mRNA. Translation: AAO72308.1 .
    AK027592 mRNA. Translation: BAB55217.1 .
    AL832265 mRNA. Translation: CAI46159.1 .
    AC074138 Genomic DNA. No translation available.
    AC092295 Genomic DNA. No translation available.
    BC132675 mRNA. Translation: AAI32676.2 .
    CCDSi CCDS33004.1. [Q96SR6-1 ]
    CCDS58659.1. [Q96SR6-2 ]
    RefSeqi NP_001243767.1. NM_001256838.1. [Q96SR6-2 ]
    NP_116214.2. NM_032825.4. [Q96SR6-1 ]
    UniGenei Hs.631591.

    3D structure databases

    ProteinModelPortali Q96SR6.
    SMRi Q96SR6. Positions 7-49, 210-542.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124348. 3 interactions.
    STRINGi 9606.ENSP00000292928.

    PTM databases

    PhosphoSitei Q96SR6.

    Polymorphism databases

    DMDMi 313104256.

    Proteomic databases

    PaxDbi Q96SR6.
    PRIDEi Q96SR6.

    Protocols and materials databases

    DNASUi 84911.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000292928 ; ENSP00000292928 ; ENSG00000161298 . [Q96SR6-1 ]
    ENST00000435416 ; ENSP00000410113 ; ENSG00000161298 . [Q96SR6-3 ]
    ENST00000439428 ; ENSP00000407593 ; ENSG00000161298 . [Q96SR6-2 ]
    GeneIDi 84911.
    KEGGi hsa:84911.
    UCSCi uc002oek.4. human. [Q96SR6-1 ]
    uc002oel.3. human. [Q96SR6-3 ]
    uc010efb.4. human. [Q96SR6-2 ]

    Organism-specific databases

    CTDi 84911.
    GeneCardsi GC19P037095.
    HGNCi HGNC:17409. ZNF382.
    HPAi HPA049259.
    MIMi 609516. gene.
    neXtProti NX_Q96SR6.
    PharmGKBi PA134869965.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000234617.
    HOVERGENi HBG018163.
    InParanoidi Q96SR6.
    KOi K09228.
    OMAi HNECEKS.
    OrthoDBi EOG7KSX7Q.
    PhylomeDBi Q96SR6.
    TreeFami TF337898.

    Enzyme and pathway databases

    Reactomei REACT_12627. Generic Transcription Pathway.

    Miscellaneous databases

    GenomeRNAii 84911.
    NextBioi 75296.
    PROi Q96SR6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96SR6.
    Bgeei Q96SR6.
    CleanExi HS_ZNF382.
    Genevestigatori Q96SR6.

    Family and domain databases

    Gene3Di 3.30.160.60. 10 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. 10 hits.
    [Graphical view ]
    SUPFAMi SSF109640. SSF109640. 1 hit.
    PROSITEi PS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 9 hits.
    PS50157. ZINC_FINGER_C2H2_2. 10 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression of a novel Kruppel-like zinc-finger gene, ZNF382, in human heart."
      Luo K., Yuan W., Zhu C., Li Y., Wang Y., Zeng W., Jiao W., Liu M., Wu X.
      Biochem. Biophys. Res. Commun. 299:606-612(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Embryonic heart.
    2. Urrutia R., Folch-Puy E., Fernandez-Zapico M.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Teratocarcinoma.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLY-168.
      Tissue: Lymph node.
    5. "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].
    6. "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] (ISOFORM 2), VARIANT GLY-168.
      Tissue: Brain.

    Entry informationi

    Entry nameiZN382_HUMAN
    AccessioniPrimary (citable) accession number: Q96SR6
    Secondary accession number(s): A3KMP6
    , A8MT55, C9K0V5, Q53ZY8, Q5JPJ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 28, 2003
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 117 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 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. 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