HOXC13

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 key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	260 – 319	HomeoboxPROSITE-ProRule annotationAdd BLAST		60

GO - Molecular functionⁱ

chromatin binding Source: Ensembl
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
sequence-specific DNA binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anatomical structure morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 10835276
anterior/posterior pattern specification Source: Ensembl
hair follicle development Source: Ensembl
nail development Source: Ensembl
tongue morphogenesis Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORⁱ	P31276

SIGNORⁱ

P31276

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Homeobox protein Hox-C13 Alternative name(s): Homeobox protein Hox-3G
Gene namesⁱ	Name:HOXC13 Synonyms:HOX3G
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 12

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000123364.4
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:5125 HOXC13
MIMⁱ	142976 gene
neXtProtⁱ	NX_P31276

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).

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_079380	271	Q → R in ECTD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1383255506Ensembl.		1

Keywords - Diseaseⁱ

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3229
MalaCards human disease database More...MalaCardsⁱ	HOXC13
MIMⁱ	614931 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000123364
Orphanetⁱ	69084 Pure hair and nail ectodermal dysplasia
PharmGKBⁱ	PA29400

Polymorphism and mutation databases

BioMutaⁱ	HOXC13
DMDMⁱ	20141539

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000200197	1 – 330	Homeobox protein Hox-C13Add BLAST		330

Proteomic databases

EPDⁱ	P31276
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P31276
PaxDbⁱ	P31276
PeptideAtlas More...PeptideAtlasⁱ	P31276
PRIDEⁱ	P31276
ProteomicsDBⁱ	54776

PTM databases

iPTMnetⁱ	P31276
PhosphoSitePlusⁱ	P31276

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000123364 Expressed in 84 organ(s), highest expression level in islet of Langerhans
CleanExⁱ	HS_HOXC13
Genevisibleⁱ	P31276 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA051634

HPAⁱ

HPA051634

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ELF1	P32519	3	EBI-2293590,EBI-765526
NFATC1	O95644	2	EBI-2293590,EBI-6907210

Protein-protein interaction databases

BioGridⁱ	109469, 16 interactors
IntActⁱ	P31276, 19 interactors
Molecular INTeraction database More...MINTⁱ	P31276
STRINGⁱ	9606.ENSP00000243056

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P31276
SMRⁱ	P31276
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	27 – 61	Gly-richAdd BLAST		35

Sequence similaritiesⁱ

Belongs to the Abd-B homeobox family.Curated

Keywords - Domainⁱ

Homeobox

Phylogenomic databases

eggNOGⁱ	KOG0487 Eukaryota ENOG4111FJP LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000143984
HOGENOMⁱ	HOG000231176
HOVERGENⁱ	HBG106958
InParanoidⁱ	P31276
KEGG Orthology (KO) More...KOⁱ	K09298
OMAⁱ	HSHNVNL
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0E5Q
PhylomeDBⁱ	P31276
TreeFamⁱ	TF330813

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR022067 HoxA13_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit PF12284 HoxA13_N, 1 hit
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

P31276-1 [UniParc]FASTA Add 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 key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	95	D → E in AAF67760 (PubMed:10835276).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_012357	50	S → I. Corresponds to variant dbSNP:rs1867298Ensembl.		1
Natural variantⁱVAR_079380	271	Q → R in ECTD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1383255506Ensembl.		1

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8865.1
PIRⁱ	S14934
NCBI Reference Sequences More...RefSeqⁱ	NP_059106.2, NM_017410.2
UniGeneⁱ	Hs.118608

Genome annotation databases

Ensemblⁱ	ENST00000243056; ENSP00000243056; ENSG00000123364
GeneIDⁱ	3229
KEGGⁱ	hsa:3229
UCSC genome browser More...UCSCⁱ	uc001sei.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P31276	HOXC13 isoform 1		PANTR		330	UniRef100_P31276
Uncharacterized protein		PANPA		330
UPI0004F201E8		PAPAN		274

Protein	Similar proteins		Species	Score	Length	Source
P31276	Homeobox protein Hox-C13		MOUSE		328	UniRef90_P50207
homeobox protein Hox-C13		TURTR		335
homeobox protein Hox-C13 isoform X1		PHYCD		331
homeobox protein Hox-C13		Florida manatee		331
HOXC13 isoform 1		PANTR		330
+87

Protein	Similar proteins		Species	Score	Length	Source
P31276	Homeobox protein Hox-C13		MOUSE		328	UniRef50_P50207
homeobox protein Hox-C13		TURTR		335
homeobox protein Hox-C13 isoform X1		PHYCD		331
homeobox protein Hox-C13		Florida manatee		331
homeobox protein Hox-C13		Yangtze finless porpoise		330
+95

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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
CCDSⁱ	CCDS8865.1
PIRⁱ	S14934
RefSeqⁱ	NP_059106.2, NM_017410.2
UniGeneⁱ	Hs.118608

3D structure databases

ProteinModelPortalⁱ	P31276
SMRⁱ	P31276
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109469, 16 interactors
IntActⁱ	P31276, 19 interactors
MINTⁱ	P31276
STRINGⁱ	9606.ENSP00000243056

PTM databases

iPTMnetⁱ	P31276
PhosphoSitePlusⁱ	P31276

Polymorphism and mutation databases

BioMutaⁱ	HOXC13
DMDMⁱ	20141539

Proteomic databases

EPDⁱ	P31276
MaxQBⁱ	P31276
PaxDbⁱ	P31276
PeptideAtlasⁱ	P31276
PRIDEⁱ	P31276
ProteomicsDBⁱ	54776

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	3229
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000243056; ENSP00000243056; ENSG00000123364
GeneIDⁱ	3229
KEGGⁱ	hsa:3229
UCSCⁱ	uc001sei.4 human

Organism-specific databases

CTDⁱ	3229
DisGeNETⁱ	3229
EuPathDBⁱ	HostDB:ENSG00000123364.4
GeneCardsⁱ	HOXC13
HGNCⁱ	HGNC:5125 HOXC13
HPAⁱ	HPA051634
MalaCardsⁱ	HOXC13
MIMⁱ	142976 gene 614931 phenotype
neXtProtⁱ	NX_P31276
OpenTargetsⁱ	ENSG00000123364
Orphanetⁱ	69084 Pure hair and nail ectodermal dysplasia
PharmGKBⁱ	PA29400
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0487 Eukaryota ENOG4111FJP LUCA
GeneTreeⁱ	ENSGT00910000143984
HOGENOMⁱ	HOG000231176
HOVERGENⁱ	HBG106958
InParanoidⁱ	P31276
KOⁱ	K09298
OMAⁱ	HSHNVNL
OrthoDBⁱ	EOG091G0E5Q
PhylomeDBⁱ	P31276
TreeFamⁱ	TF330813

Enzyme and pathway databases

SIGNORⁱ	P31276

SIGNORⁱ

P31276

Miscellaneous databases

ChiTaRSⁱ	HOXC13 human
GeneWikiⁱ	HOXC13
GenomeRNAiⁱ	3229
Protein Ontology More...PROⁱ	PR:P31276
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000123364 Expressed in 84 organ(s), highest expression level in islet of Langerhans
CleanExⁱ	HS_HOXC13
Genevisibleⁱ	P31276 HS

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR022067 HoxA13_N
Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit PF12284 HoxA13_N, 1 hit
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	HXC13_HUMAN
Accessionⁱ	P31276Primary (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:	November 7, 2018
	This is version 177 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Vertebrate homeotic Hox proteins
Nomenclature of vertebrate homeotic Hox proteins and list of entries
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM

UniProtKB

UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P31276 (HXC13_HUMAN)

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Homeobox protein Hox-C13

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ