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Protein

Homeobox protein Hox-C13

Gene

HOXC13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi260 – 319HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP31276

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000123364.4
HGNCiHGNC:5125 HOXC13
MIMi142976 gene
neXtProtiNX_P31276

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia 9, hair/nail type (ECTD9)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:614931
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079380271Q → R in ECTD9; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi3229
MalaCardsiHOXC13
MIMi614931 phenotype
OpenTargetsiENSG00000123364
Orphaneti69084 Pure hair and nail ectodermal dysplasia
PharmGKBiPA29400

Polymorphism and mutation databases

BioMutaiHOXC13
DMDMi20141539

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002001971 – 330Homeobox protein Hox-C13Add BLAST330

Proteomic databases

MaxQBiP31276
PaxDbiP31276
PeptideAtlasiP31276
PRIDEiP31276
ProteomicsDBi54776

PTM databases

iPTMnetiP31276
PhosphoSitePlusiP31276

Expressioni

Gene expression databases

BgeeiENSG00000123364
CleanExiHS_HOXC13
GenevisibleiP31276 HS

Organism-specific databases

HPAiHPA051634

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi109469, 16 interactors
IntActiP31276, 19 interactors
MINTiP31276
STRINGi9606.ENSP00000243056

Structurei

3D structure databases

ProteinModelPortaliP31276
SMRiP31276
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi27 – 61Gly-richAdd BLAST35

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231176
HOVERGENiHBG106958
InParanoidiP31276
KOiK09298
OMAiHSHNVNL
OrthoDBiEOG091G0E5Q
PhylomeDBiP31276
TreeFamiTF330813

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR022067 HoxA13_N
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF12284 HoxA13_N, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

P31276-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS
60 70 80 90 100
PGKAPSMDGL GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE
110 120 130 140 150
AARQCAPPPA PPTSSSATLG YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG
160 170 180 190 200
DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS SYQAMPGYLD VSVVPGISGH
210 220 230 240 250
PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW KSPFPDVVPL
260 270 280 290 300
QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS
310 320 330
ERQVTIWFQN RRVKEKKVVS KSKAPHLHST
Length:330
Mass (Da):35,379
Last modified:January 23, 2002 - v3
Checksum:i7D67C5F1E5E4E915
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95D → E in AAF67760 (PubMed:10835276).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01235750S → I. Corresponds to variant dbSNP:rs1867298Ensembl.1
Natural variantiVAR_079380271Q → R in ECTD9; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHXC13_HUMAN
AccessioniPrimary (citable) accession number: P31276
Secondary accession number(s): Q5BL02
, Q96J32, Q9NR24, Q9NYD5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: January 23, 2002
Last modified: June 20, 2018
This is version 173 of the entry and version 3 of the sequence. See 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

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