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O43248

- HXC11_HUMAN

UniProt

O43248 - HXC11_HUMAN

Protein

Homeobox protein Hox-C11

Gene

HOXC11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    Functioni

    Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi232 – 29160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. embryonic digit morphogenesis Source: Ensembl
    3. embryonic skeletal joint morphogenesis Source: Ensembl
    4. endoderm development Source: ProtInc
    5. metanephros development Source: Ensembl
    6. organ induction Source: Ensembl
    7. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
    8. proximal/distal pattern formation Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Hox-C11
    Alternative name(s):
    Homeobox protein Hox-3H
    Gene namesi
    Name:HOXC11
    Synonyms:HOX3H
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:5123. HOXC11.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29398.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 304304Homeobox protein Hox-C11PRO_0000200192Add
    BLAST

    Proteomic databases

    PaxDbiO43248.
    PRIDEiO43248.

    PTM databases

    PhosphoSiteiO43248.

    Expressioni

    Gene expression databases

    ArrayExpressiO43248.
    BgeeiO43248.
    CleanExiHS_HOXC11.
    GenevestigatoriO43248.

    Organism-specific databases

    HPAiHPA038291.

    Interactioni

    Protein-protein interaction databases

    BioGridi109467. 13 interactions.
    IntActiO43248. 2 interactions.
    STRINGi9606.ENSP00000243082.

    Structurei

    3D structure databases

    ProteinModelPortaliO43248.
    SMRiO43248. Positions 232-291.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Abd-B homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG298161.
    HOGENOMiHOG000231898.
    HOVERGENiHBG052048.
    InParanoidiO43248.
    KOiK09296.
    OrthoDBiEOG7KWSJ0.
    PhylomeDBiO43248.
    TreeFamiTF350668.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR021918. DUF3528.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF12045. DUF3528. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O43248-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFNSVNLGNF CSPSRKERGA DFGERGSCAS NLYLPSCTYY MPEFSTVSSF    50
    LPQAPSRQIS YPYSAQVPPV REVSYGLEPS GKWHHRNSYS SCYAAADELM 100
    HRECLPPSTV TEILMKNEGS YGGHHHPSAP HATPAGFYSS VNKNSVLPQA 150
    FDRFFDNAYC GGGDPPAEPP CSGKGEAKGE PEAPPASGLA SRAEAGAEAE 200
    AEEENTNPSS SGSAHSVAKE PAKGAAPNAP RTRKKRCPYS KFQIRELERE 250
    FFFNVYINKE KRLQLSRMLN LTDRQVKIWF QNRRMKEKKL SRDRLQYFSG 300
    NPLL 304
    Length:304
    Mass (Da):33,748
    Last modified:June 1, 1998 - v1
    Checksum:iEB357DEBB3DE165F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti48 – 481S → F in AAH01543. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti130 – 1301P → S.1 Publication
    Corresponds to variant rs34652380 [ dbSNP | Ensembl ].
    VAR_031850
    Natural varianti222 – 2221A → V.
    Corresponds to variant rs12427129 [ dbSNP | Ensembl ].
    VAR_034002

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ000041 mRNA. Translation: CAA03876.1.
    AK291946 mRNA. Translation: BAF84635.1.
    CH471054 Genomic DNA. Translation: EAW96736.1.
    BC001543 mRNA. Translation: AAH01543.1.
    CCDSiCCDS8867.1.
    PIRiA60941.
    RefSeqiNP_055027.1. NM_014212.3.
    UniGeneiHs.127562.

    Genome annotation databases

    EnsembliENST00000546378; ENSP00000446680; ENSG00000123388.
    GeneIDi3227.
    KEGGihsa:3227.
    UCSCiuc001sem.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ000041 mRNA. Translation: CAA03876.1 .
    AK291946 mRNA. Translation: BAF84635.1 .
    CH471054 Genomic DNA. Translation: EAW96736.1 .
    BC001543 mRNA. Translation: AAH01543.1 .
    CCDSi CCDS8867.1.
    PIRi A60941.
    RefSeqi NP_055027.1. NM_014212.3.
    UniGenei Hs.127562.

    3D structure databases

    ProteinModelPortali O43248.
    SMRi O43248. Positions 232-291.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109467. 13 interactions.
    IntActi O43248. 2 interactions.
    STRINGi 9606.ENSP00000243082.

    PTM databases

    PhosphoSitei O43248.

    Proteomic databases

    PaxDbi O43248.
    PRIDEi O43248.

    Protocols and materials databases

    DNASUi 3227.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000546378 ; ENSP00000446680 ; ENSG00000123388 .
    GeneIDi 3227.
    KEGGi hsa:3227.
    UCSCi uc001sem.3. human.

    Organism-specific databases

    CTDi 3227.
    GeneCardsi GC12P054366.
    HGNCi HGNC:5123. HOXC11.
    HPAi HPA038291.
    MIMi 605559. gene.
    neXtProti NX_O43248.
    PharmGKBi PA29398.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG298161.
    HOGENOMi HOG000231898.
    HOVERGENi HBG052048.
    InParanoidi O43248.
    KOi K09296.
    OrthoDBi EOG7KWSJ0.
    PhylomeDBi O43248.
    TreeFami TF350668.

    Miscellaneous databases

    GeneWikii HOXC11.
    GenomeRNAii 3227.
    NextBioi 12843.
    PROi O43248.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43248.
    Bgeei O43248.
    CleanExi HS_HOXC11.
    Genevestigatori O43248.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR021918. DUF3528.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF12045. DUF3528. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The HOXC11 homeodomain protein interacts with the lactase-phlorizin hydrolase promoter and stimulates HNF1alpha-dependent transcription."
      Mitchelmore C.E., Troelsen J.T., Sjoestroem H., Noren O.
      J. Biol. Chem. 273:13297-13306(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
      Tissue: Cervix.
    5. Cited for: VARIANT SER-130.

    Entry informationi

    Entry nameiHXC11_HUMAN
    AccessioniPrimary (citable) accession number: O43248
    Secondary accession number(s): A8K7D1, Q96DH2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 134 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. Vertebrate homeotic Hox proteins
      Nomenclature of vertebrate homeotic Hox proteins and list of entries
    2. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3