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P15622

- ZN250_HUMAN

UniProt

P15622 - ZN250_HUMAN

Protein

Zinc finger protein 250

Gene

ZNF250

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 3 (19 Jul 2004)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri199 – 22123C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri227 – 24923C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri255 – 27723C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri283 – 30523C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri311 – 33323C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri339 – 36123C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri367 – 38923C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri395 – 41723C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri423 – 44523C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri451 – 47323C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri479 – 50123C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri507 – 52923C2H2-type 12PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri535 – 55723C2H2-type 13PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. sequence-specific DNA binding transcription factor activity Source: RefGenome

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: RefGenome
    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 250
    Alternative name(s):
    Zinc finger protein 647
    Gene namesi
    Name:ZNF250
    Synonyms:ZNF647
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:13044. ZNF250.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37622.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 560560Zinc finger protein 250PRO_0000047483Add
    BLAST

    Proteomic databases

    MaxQBiP15622.
    PaxDbiP15622.
    PRIDEiP15622.

    2D gel databases

    REPRODUCTION-2DPAGEP15622.

    PTM databases

    PhosphoSiteiP15622.

    Expressioni

    Gene expression databases

    ArrayExpressiP15622.
    BgeeiP15622.
    CleanExiHS_ZNF250.
    GenevestigatoriP15622.

    Organism-specific databases

    HPAiHPA020853.

    Interactioni

    Protein-protein interaction databases

    BioGridi121830. 16 interactions.
    IntActiP15622. 16 interactions.
    MINTiMINT-1438501.
    STRINGi9606.ENSP00000292579.

    Structurei

    3D structure databases

    ProteinModelPortaliP15622.
    SMRiP15622. Positions 196-559.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini22 – 9372KRABPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 13 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 KRAB domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri199 – 22123C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri227 – 24923C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri255 – 27723C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri283 – 30523C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri311 – 33323C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri339 – 36123C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri367 – 38923C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri395 – 41723C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri423 – 44523C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri451 – 47323C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri479 – 50123C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri507 – 52923C2H2-type 12PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri535 – 55723C2H2-type 13PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000234617.
    HOVERGENiHBG018163.
    InParanoidiP15622.
    KOiK09228.
    OMAiNVMMETY.
    OrthoDBiEOG7KSX7Q.
    PhylomeDBiP15622.
    TreeFamiTF341817.

    Family and domain databases

    Gene3Di3.30.160.60. 13 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. 13 hits.
    [Graphical view]
    SUPFAMiSSF109640. SSF109640. 1 hit.
    PROSITEiPS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 13 hits.
    PS50157. ZINC_FINGER_C2H2_2. 13 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P15622-1) [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

    MAAARLLPVP AGPQPLSFQA KLTFEDVAVL LSQDEWDRLC PAQRGLYRNV    50
    MMETYGNVVS LGLPGSKPDI ISQLERGEDP WVLDRKGAKK SQGLWSDYSD 100
    NLKYDHTTAC TQQDSLSCPW ECETKGESQN TDLSPKPLIS EQTVILGKTP 150
    LGRIDQENNE TKQSFCLSPN SVDHREVQVL SQSMPLTPHQ AVPSGERPYM 200
    CVECGKCFGR SSHLLQHQRI HTGEKPYVCS VCGKAFSQSS VLSKHRRIHT 250
    GEKPYECNEC GKAFRVSSDL AQHHKIHTGE KPHECLECRK AFTQLSHLIQ 300
    HQRIHTGERP YVCPLCGKAF NHSTVLRSHQ RVHTGEKPHR CNECGKTFSV 350
    KRTLLQHQRI HTGEKPYTCS ECGKAFSDRS VLIQHHNVHT GEKPYECSEC 400
    GKTFSHRSTL MNHERIHTEE KPYACYECGK AFVQHSHLIQ HQRVHTGEKP 450
    YVCGECGHAF SARRSLIQHE RIHTGEKPFQ CTECGKAFSL KATLIVHLRT 500
    HTGEKPYECN SCGKAFSQYS VLIQHQRIHT GEKPYECGEC GRAFNQHGHL 550
    IQHQKVHRKL 560
    Length:560
    Mass (Da):63,468
    Last modified:July 19, 2004 - v3
    Checksum:i800170E1875D988C
    GO
    Isoform 2 (identifier: P15622-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         15-19: Missing.
         366-477: Missing.

    Show »
    Length:443
    Mass (Da):50,022
    Checksum:i5C51169876D5BBF5
    GO
    Isoform 3 (identifier: P15622-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         15-19: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:555
    Mass (Da):62,895
    Checksum:i28038298ED50A5B1
    GO

    Sequence cautioni

    The sequence CAA34358.1 differs from that shown. Reason: Frameshift at positions 458 and 488.
    The sequence BAD92047.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti515 – 5217AFSQYSV → PSASTQL1 PublicationCurated
    Sequence conflicti542 – 5421R → G1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei15 – 195Missing in isoform 2 and isoform 3. 2 PublicationsVSP_011039
    Alternative sequencei366 – 477112Missing in isoform 2. 1 PublicationVSP_011040Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095705 mRNA. Translation: BAC04614.1.
    AB208810 mRNA. Translation: BAD92047.1. Different initiation.
    AF235103 Genomic DNA. No translation available.
    CH471162 Genomic DNA. Translation: EAW82029.1.
    CH471162 Genomic DNA. Translation: EAW82030.1.
    BC017091 mRNA. Translation: AAH17091.2.
    X16282 mRNA. Translation: CAA34358.1. Frameshift.
    CCDSiCCDS34972.1. [P15622-1]
    CCDS55282.1. [P15622-3]
    PIRiS06781.
    RefSeqiNP_001103159.1. NM_001109689.3. [P15622-3]
    NP_066405.1. NM_021061.4. [P15622-1]
    XP_005272384.1. XM_005272327.1. [P15622-3]
    XP_005272385.1. XM_005272328.1. [P15622-3]
    XP_006716675.1. XM_006716612.1. [P15622-1]
    XP_006716676.1. XM_006716613.1. [P15622-1]
    UniGeneiHs.532277.

    Genome annotation databases

    EnsembliENST00000292579; ENSP00000292579; ENSG00000196150. [P15622-1]
    ENST00000417550; ENSP00000393442; ENSG00000196150. [P15622-3]
    GeneIDi58500.
    KEGGihsa:58500.
    UCSCiuc003zeq.4. human. [P15622-1]
    uc003zer.4. human.

    Polymorphism databases

    DMDMi50403721.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095705 mRNA. Translation: BAC04614.1 .
    AB208810 mRNA. Translation: BAD92047.1 . Different initiation.
    AF235103 Genomic DNA. No translation available.
    CH471162 Genomic DNA. Translation: EAW82029.1 .
    CH471162 Genomic DNA. Translation: EAW82030.1 .
    BC017091 mRNA. Translation: AAH17091.2 .
    X16282 mRNA. Translation: CAA34358.1 . Frameshift.
    CCDSi CCDS34972.1. [P15622-1 ]
    CCDS55282.1. [P15622-3 ]
    PIRi S06781.
    RefSeqi NP_001103159.1. NM_001109689.3. [P15622-3 ]
    NP_066405.1. NM_021061.4. [P15622-1 ]
    XP_005272384.1. XM_005272327.1. [P15622-3 ]
    XP_005272385.1. XM_005272328.1. [P15622-3 ]
    XP_006716675.1. XM_006716612.1. [P15622-1 ]
    XP_006716676.1. XM_006716613.1. [P15622-1 ]
    UniGenei Hs.532277.

    3D structure databases

    ProteinModelPortali P15622.
    SMRi P15622. Positions 196-559.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121830. 16 interactions.
    IntActi P15622. 16 interactions.
    MINTi MINT-1438501.
    STRINGi 9606.ENSP00000292579.

    PTM databases

    PhosphoSitei P15622.

    Polymorphism databases

    DMDMi 50403721.

    2D gel databases

    REPRODUCTION-2DPAGE P15622.

    Proteomic databases

    MaxQBi P15622.
    PaxDbi P15622.
    PRIDEi P15622.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000292579 ; ENSP00000292579 ; ENSG00000196150 . [P15622-1 ]
    ENST00000417550 ; ENSP00000393442 ; ENSG00000196150 . [P15622-3 ]
    GeneIDi 58500.
    KEGGi hsa:58500.
    UCSCi uc003zeq.4. human. [P15622-1 ]
    uc003zer.4. human.

    Organism-specific databases

    CTDi 58500.
    GeneCardsi GC08M146078.
    HGNCi HGNC:13044. ZNF250.
    HPAi HPA020853.
    neXtProti NX_P15622.
    PharmGKBi PA37622.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000234617.
    HOVERGENi HBG018163.
    InParanoidi P15622.
    KOi K09228.
    OMAi NVMMETY.
    OrthoDBi EOG7KSX7Q.
    PhylomeDBi P15622.
    TreeFami TF341817.

    Enzyme and pathway databases

    Reactomei REACT_12627. Generic Transcription Pathway.

    Miscellaneous databases

    GenomeRNAii 58500.
    NextBioi 65004.
    PROi P15622.

    Gene expression databases

    ArrayExpressi P15622.
    Bgeei P15622.
    CleanExi HS_ZNF250.
    Genevestigatori P15622.

    Family and domain databases

    Gene3Di 3.30.160.60. 13 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. 13 hits.
    [Graphical view ]
    SUPFAMi SSF109640. SSF109640. 1 hit.
    PROSITEi PS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 13 hits.
    PS50157. ZINC_FINGER_C2H2_2. 13 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] (ISOFORM 2).
      Tissue: Brain.
    2. "Homo sapiens protein coding cDNA."
      Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    3. "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].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Colon.
    6. Ammendola S., Ciliberto G.
      Submitted (AUG-1989) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 250-560 (ISOFORM 1).

    Entry informationi

    Entry nameiZN250_HUMAN
    AccessioniPrimary (citable) accession number: P15622
    Secondary accession number(s): D3DWP1
    , Q59HE9, Q8N942, Q96AH9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: July 19, 2004
    Last modified: October 1, 2014
    This is version 149 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 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3