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P31276

- HXC13_HUMAN

UniProt

P31276 - HXC13_HUMAN

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Protein

Homeobox protein Hox-C13

Gene
HOXC13, HOX3G
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi260 – 31960HomeoboxAdd
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
Complete GO annotation...

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
Complete GO annotation...

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).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Belongs to the Abd-B homeobox family.

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

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti95 – 951D → E in AAF67760. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 143 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

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