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Q8TC21

- ZN596_HUMAN

UniProt

Q8TC21 - ZN596_HUMAN

Protein

Zinc finger protein 596

Gene

ZNF596

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (01 Sep 2009)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri195 – 21723C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri223 – 24523C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri251 – 27323C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri279 – 30123C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri307 – 32923C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri335 – 35723C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri363 – 38523C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri391 – 41323C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri419 – 44123C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri447 – 46923C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri475 – 49723C2H2-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 596
    Gene namesi
    Name:ZNF596
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:27268. ZNF596.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134901402.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 504504Zinc finger protein 596PRO_0000245849Add
    BLAST

    Proteomic databases

    PaxDbiQ8TC21.
    PRIDEiQ8TC21.

    PTM databases

    PhosphoSiteiQ8TC21.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TC21.
    BgeeiQ8TC21.
    CleanExiHS_ZNF596.
    GenevestigatoriQ8TC21.

    Organism-specific databases

    HPAiHPA055463.

    Interactioni

    Protein-protein interaction databases

    BioGridi127979. 1 interaction.
    IntActiQ8TC21. 1 interaction.
    STRINGi9606.ENSP00000310033.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TC21.
    SMRiQ8TC21. Positions 7-47, 83-500.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini7 – 7872KRABPROSITE-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 fingeri195 – 21723C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri223 – 24523C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri251 – 27323C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri279 – 30123C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri307 – 32923C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri335 – 35723C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri363 – 38523C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri391 – 41323C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri419 – 44123C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri447 – 46923C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri475 – 49723C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000234617.
    HOVERGENiHBG018163.
    InParanoidiQ8TC21.
    KOiK09228.
    OMAiSHTQEDP.
    PhylomeDBiQ8TC21.
    TreeFamiTF338497.

    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. 11 hits.
    PS50157. ZINC_FINGER_C2H2_2. 11 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TC21-1) [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

    MPSPDSMTFE DIIVDFTQEE WALLDTSQRK LFQDVMLENI SHLVSIGKQL    50
    CKSVVLSQLE QVEKLSTQRI SLLQGREVGI KHQEIPFIQH IYQKGTSTIS 100
    TMRSHTQEDP FLCNDLGEDF TQHIALTQNV ITYMRTKHFV SKKFGKIFSD 150
    WLSFNQHKEI HTKCKSYGSH LFDYAFIQNS ALRPHSVTHT REITLECRVC 200
    GKTFSKNSNL RRHEMIHTGE KPHGCHLCGK AFTHCSDLRK HERTHTGEKP 250
    YGCHLCGKAF SKSSNLRRHE MIHTREKAQI CHLCGKAFTH CSDLRKHERT 300
    HLGDKPYGCL LCGKAFSKCS YLRQHERTHN GEKPYECHLC GKAFSHCSHL 350
    RQHERSHNGE KPHGCHLCGK AFTESSVLKR HERIHTGEKP YECHVCGKAF 400
    TESSDLRRHE RTHTGEKPYE CHLCGKAFNH SSVLRRHERT HTGEKPYECN 450
    ICGKAFNRSY NFRLHRRVHT GEKPYVCPLC GKAFSKFFNL RQHERTHTKK 500
    AMNM 504
    Length:504
    Mass (Da):58,513
    Last modified:September 1, 2009 - v2
    Checksum:i1158FF72312AE7DA
    GO
    Isoform 2 (identifier: Q8TC21-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         48-117: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:434
    Mass (Da):50,536
    Checksum:i149F2838E4B41B33
    GO
    Isoform 3 (identifier: Q8TC21-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-101: Missing.
         235-240: CSDLRK → LIIVNT
         241-504: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:139
    Mass (Da):16,188
    Checksum:iC762D2408E4F9966
    GO

    Sequence cautioni

    The sequence BAG36241.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAD05197.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 891Q → H in AAH26190. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti136 – 1361T → K.
    Corresponds to variant rs2074718 [ dbSNP | Ensembl ].
    VAR_027014
    Natural varianti476 – 4761V → G.
    Corresponds to variant rs2072174 [ dbSNP | Ensembl ].
    VAR_027015

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 101101Missing in isoform 3. 1 PublicationVSP_019801Add
    BLAST
    Alternative sequencei48 – 11770Missing in isoform 2. CuratedVSP_019802Add
    BLAST
    Alternative sequencei235 – 2406CSDLRK → LIIVNT in isoform 3. 1 PublicationVSP_019803
    Alternative sequencei241 – 504264Missing in isoform 3. 1 PublicationVSP_019804Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK313454 mRNA. Translation: BAG36241.1. Different initiation.
    AK093442 mRNA. Translation: BAC04166.1.
    AC004908 Genomic DNA. Translation: AAD05197.1. Sequence problems.
    BC026190 mRNA. Translation: AAH26190.2.
    CCDSiCCDS5951.2. [Q8TC21-1]
    RefSeqiNP_001035880.1. NM_001042415.2. [Q8TC21-1]
    NP_001035881.1. NM_001042416.2. [Q8TC21-1]
    NP_001274183.1. NM_001287254.1. [Q8TC21-1]
    NP_001274184.1. NM_001287255.1. [Q8TC21-1]
    NP_001274185.1. NM_001287256.1. [Q8TC21-1]
    NP_001274328.1. NM_001287399.1.
    NP_775810.2. NM_173539.3. [Q8TC21-1]
    XP_006716299.1. XM_006716236.1. [Q8TC21-1]
    UniGeneiHs.591388.

    Genome annotation databases

    EnsembliENST00000308811; ENSP00000310033; ENSG00000172748. [Q8TC21-1]
    ENST00000320552; ENSP00000318719; ENSG00000172748. [Q8TC21-2]
    ENST00000398612; ENSP00000381613; ENSG00000172748. [Q8TC21-1]
    GeneIDi169270.
    KEGGihsa:169270.
    UCSCiuc003wot.3. human. [Q8TC21-1]

    Polymorphism databases

    DMDMi257050982.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK313454 mRNA. Translation: BAG36241.1 . Different initiation.
    AK093442 mRNA. Translation: BAC04166.1 .
    AC004908 Genomic DNA. Translation: AAD05197.1 . Sequence problems.
    BC026190 mRNA. Translation: AAH26190.2 .
    CCDSi CCDS5951.2. [Q8TC21-1 ]
    RefSeqi NP_001035880.1. NM_001042415.2. [Q8TC21-1 ]
    NP_001035881.1. NM_001042416.2. [Q8TC21-1 ]
    NP_001274183.1. NM_001287254.1. [Q8TC21-1 ]
    NP_001274184.1. NM_001287255.1. [Q8TC21-1 ]
    NP_001274185.1. NM_001287256.1. [Q8TC21-1 ]
    NP_001274328.1. NM_001287399.1.
    NP_775810.2. NM_173539.3. [Q8TC21-1 ]
    XP_006716299.1. XM_006716236.1. [Q8TC21-1 ]
    UniGenei Hs.591388.

    3D structure databases

    ProteinModelPortali Q8TC21.
    SMRi Q8TC21. Positions 7-47, 83-500.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127979. 1 interaction.
    IntActi Q8TC21. 1 interaction.
    STRINGi 9606.ENSP00000310033.

    PTM databases

    PhosphoSitei Q8TC21.

    Polymorphism databases

    DMDMi 257050982.

    Proteomic databases

    PaxDbi Q8TC21.
    PRIDEi Q8TC21.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308811 ; ENSP00000310033 ; ENSG00000172748 . [Q8TC21-1 ]
    ENST00000320552 ; ENSP00000318719 ; ENSG00000172748 . [Q8TC21-2 ]
    ENST00000398612 ; ENSP00000381613 ; ENSG00000172748 . [Q8TC21-1 ]
    GeneIDi 169270.
    KEGGi hsa:169270.
    UCSCi uc003wot.3. human. [Q8TC21-1 ]

    Organism-specific databases

    CTDi 169270.
    GeneCardsi GC08P000174.
    HGNCi HGNC:27268. ZNF596.
    HPAi HPA055463.
    neXtProti NX_Q8TC21.
    PharmGKBi PA134901402.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000234617.
    HOVERGENi HBG018163.
    InParanoidi Q8TC21.
    KOi K09228.
    OMAi SHTQEDP.
    PhylomeDBi Q8TC21.
    TreeFami TF338497.

    Enzyme and pathway databases

    Reactomei REACT_12627. Generic Transcription Pathway.

    Miscellaneous databases

    GenomeRNAii 169270.
    NextBioi 88795.
    PROi Q8TC21.

    Gene expression databases

    ArrayExpressi Q8TC21.
    Bgeei Q8TC21.
    CleanExi HS_ZNF596.
    Genevestigatori Q8TC21.

    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. 11 hits.
    PS50157. ZINC_FINGER_C2H2_2. 11 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 3).
      Tissue: Brain and Testis.
    2. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORM 1).
      Tissue: Testis.

    Entry informationi

    Entry nameiZN596_HUMAN
    AccessioniPrimary (citable) accession number: Q8TC21
    Secondary accession number(s): B2R8P4, O95015, Q8N9X0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: September 1, 2009
    Last modified: October 1, 2014
    This is version 110 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 8
      Human chromosome 8: 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