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P31276

- HXC13_HUMAN

UniProt

P31276 - HXC13_HUMAN

Protein

Homeobox protein Hox-C13

Gene

HOXC13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 3 (23 Jan 2002)
      Previous versions | rss
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    Functioni

    Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi260 – 31960HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: IntAct
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    4. sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. anterior/posterior pattern specification Source: Ensembl
    3. hair follicle development Source: Ensembl
    4. nail development Source: Ensembl
    5. tongue morphogenesis 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-C13
    Alternative name(s):
    Homeobox protein Hox-3G
    Gene namesi
    Name:HOXC13
    Synonyms:HOX3G
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:5125. HOXC13.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ectodermal dysplasia

    Organism-specific databases

    MIMi614931. phenotype.
    Orphaneti69084. Pure hair and nail ectodermal dysplasia.
    PharmGKBiPA29400.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 330330Homeobox protein Hox-C13PRO_0000200197Add
    BLAST

    Proteomic databases

    MaxQBiP31276.
    PaxDbiP31276.
    PRIDEiP31276.

    PTM databases

    PhosphoSiteiP31276.

    Expressioni

    Gene expression databases

    ArrayExpressiP31276.
    BgeeiP31276.
    CleanExiHS_HOXC13.
    GenevestigatoriP31276.

    Organism-specific databases

    HPAiHPA051634.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ELF1P325193EBI-2293590,EBI-765526

    Protein-protein interaction databases

    BioGridi109469. 7 interactions.
    IntActiP31276. 1 interaction.
    STRINGi9606.ENSP00000243056.

    Structurei

    3D structure databases

    ProteinModelPortaliP31276.
    SMRiP31276. Positions 260-323.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi27 – 6135Gly-richAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG276440.
    HOGENOMiHOG000231176.
    HOVERGENiHBG106958.
    InParanoidiP31276.
    KOiK09298.
    OMAiKPCSYHP.
    OrthoDBiEOG7SJD53.
    PhylomeDBiP31276.
    TreeFamiTF330813.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR022067. HoxA13_N.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF12284. HoxA13_N. 1 hit.
    [Graphical view]
    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.

    P31276-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS    50
    PGKAPSMDGL GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE 100
    AARQCAPPPA PPTSSSATLG YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG 150
    DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS SYQAMPGYLD VSVVPGISGH 200
    PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW KSPFPDVVPL 250
    QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS 300
    ERQVTIWFQN RRVKEKKVVS KSKAPHLHST 330
    Length:330
    Mass (Da):35,379
    Last modified:January 23, 2002 - v3
    Checksum:i7D67C5F1E5E4E915
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti95 – 951D → E in AAF67760. (PubMed:10835276)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501S → I.
    Corresponds to variant rs1867298 [ dbSNP | Ensembl ].
    VAR_012357

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF255676 mRNA. Translation: AAF67760.1.
    AF263466 mRNA. Translation: AAF73439.1.
    BT009908 mRNA. Translation: AAP88910.1.
    BC090850 mRNA. Translation: AAH90850.1.
    AK024027 mRNA. Translation: BAB14786.1.
    CCDSiCCDS8865.1.
    PIRiS14934.
    RefSeqiNP_059106.2. NM_017410.2.
    UniGeneiHs.118608.

    Genome annotation databases

    EnsembliENST00000243056; ENSP00000243056; ENSG00000123364.
    GeneIDi3229.
    KEGGihsa:3229.
    UCSCiuc001sei.3. human.

    Polymorphism databases

    DMDMi20141539.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF255676 mRNA. Translation: AAF67760.1 .
    AF263466 mRNA. Translation: AAF73439.1 .
    BT009908 mRNA. Translation: AAP88910.1 .
    BC090850 mRNA. Translation: AAH90850.1 .
    AK024027 mRNA. Translation: BAB14786.1 .
    CCDSi CCDS8865.1.
    PIRi S14934.
    RefSeqi NP_059106.2. NM_017410.2.
    UniGenei Hs.118608.

    3D structure databases

    ProteinModelPortali P31276.
    SMRi P31276. Positions 260-323.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109469. 7 interactions.
    IntActi P31276. 1 interaction.
    STRINGi 9606.ENSP00000243056.

    PTM databases

    PhosphoSitei P31276.

    Polymorphism databases

    DMDMi 20141539.

    Proteomic databases

    MaxQBi P31276.
    PaxDbi P31276.
    PRIDEi P31276.

    Protocols and materials databases

    DNASUi 3229.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243056 ; ENSP00000243056 ; ENSG00000123364 .
    GeneIDi 3229.
    KEGGi hsa:3229.
    UCSCi uc001sei.3. human.

    Organism-specific databases

    CTDi 3229.
    GeneCardsi GC12P054332.
    HGNCi HGNC:5125. HOXC13.
    HPAi HPA051634.
    MIMi 142976. gene.
    614931. phenotype.
    neXtProti NX_P31276.
    Orphaneti 69084. Pure hair and nail ectodermal dysplasia.
    PharmGKBi PA29400.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276440.
    HOGENOMi HOG000231176.
    HOVERGENi HBG106958.
    InParanoidi P31276.
    KOi K09298.
    OMAi KPCSYHP.
    OrthoDBi EOG7SJD53.
    PhylomeDBi P31276.
    TreeFami TF330813.

    Miscellaneous databases

    ChiTaRSi HOXC13. human.
    GeneWikii HOXC13.
    GenomeRNAii 3229.
    NextBioi 12851.
    PROi P31276.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P31276.
    Bgeei P31276.
    CleanExi HS_HOXC13.
    Genevestigatori P31276.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR022067. HoxA13_N.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF12284. HoxA13_N. 1 hit.
    [Graphical view ]
    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. "Selection of homeotic proteins for binding to a human DNA replication origin."
      de Stanchina E., Gabellini D., Norio P., Giacca M., Peverali F.A., Riva S., Falaschi A., Biamonti G.
      J. Mol. Biol. 299:667-680(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "A homeobox protein interacting with promoter region of p21WAF1/CIP1 gene is identical to HOX-C13 (HOX 3G)."
      Li S., Zhang B., Li X.
      Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    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: Eye.
    5. "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] OF 185-330.
    6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 260-325.
    7. "Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia."
      Lin Z., Chen Q., Shi L., Lee M., Giehl K.A., Tang Z., Wang H., Zhang J., Yin J., Wu L., Xiao R., Liu X., Dai L., Zhu X., Li R., Betz R.C., Zhang X., Yang Y.
      Am. J. Hum. Genet. 91:906-911(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ECTD9.

    Entry informationi

    Entry nameiHXC13_HUMAN
    AccessioniPrimary (citable) accession number: P31276
    Secondary accession number(s): Q5BL02
    , Q96J32, Q9NR24, Q9NYD5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: January 23, 2002
    Last modified: October 1, 2014
    This is version 144 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. 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