Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P31276 (HXC13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-C13
Alternative name(s):
Homeobox protein Hox-3G
Gene names
Name:HOXC13
Synonyms:HOX3G
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length330 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus.

Involvement in disease

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. Ref.7

Sequence similarities

Belongs to the Abd-B homeobox family.

Contains 1 homeobox DNA-binding domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ELF1P325193EBI-2293590,EBI-765526

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 330330Homeobox protein Hox-C13
PRO_0000200197

Regions

DNA binding260 – 31960Homeobox
Compositional bias27 – 6135Gly-rich

Natural variations

Natural variant501S → I.
Corresponds to variant rs1867298 [ dbSNP | Ensembl ].
VAR_012357

Experimental info

Sequence conflict951D → E in AAF67760. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P31276 [UniParc].

Last modified January 23, 2002. Version 3.
Checksum: 7D67C5F1E5E4E915

FASTA33035,379
        10         20         30         40         50         60 
MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS PGKAPSMDGL 

        70         80         90        100        110        120 
GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE AARQCAPPPA PPTSSSATLG 

       130        140        150        160        170        180 
YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS 

       190        200        210        220        230        240 
SYQAMPGYLD VSVVPGISGH PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW 

       250        260        270        280        290        300 
KSPFPDVVPL QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS 

       310        320        330 
ERQVTIWFQN RRVKEKKVVS KSKAPHLHST 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The human HOX gene family."
Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E., Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.
Nucleic Acids Res. 17:10385-10402(1989) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS8865.1.
PIRS14934.
RefSeqNP_059106.2. NM_017410.2.
UniGeneHs.118608.

3D structure databases

ProteinModelPortalP31276.
SMRP31276. Positions 260-323.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109469. 7 interactions.
IntActP31276. 1 interaction.
STRING9606.ENSP00000243056.

PTM databases

PhosphoSiteP31276.

Polymorphism databases

DMDM20141539.

Proteomic databases

MaxQBP31276.
PaxDbP31276.
PRIDEP31276.

Protocols and materials databases

DNASU3229.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000243056; ENSP00000243056; ENSG00000123364.
GeneID3229.
KEGGhsa:3229.
UCSCuc001sei.3. human.

Organism-specific databases

CTD3229.
GeneCardsGC12P054332.
HGNCHGNC:5125. HOXC13.
HPAHPA051634.
MIM142976. gene.
614931. phenotype.
neXtProtNX_P31276.
Orphanet69084. Pure hair and nail ectodermal dysplasia.
PharmGKBPA29400.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG276440.
HOGENOMHOG000231176.
HOVERGENHBG106958.
InParanoidP31276.
KOK09298.
OMAKPCSYHP.
OrthoDBEOG7SJD53.
PhylomeDBP31276.
TreeFamTF330813.

Gene expression databases

ArrayExpressP31276.
BgeeP31276.
CleanExHS_HOXC13.
GenevestigatorP31276.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR022067. HoxA13_N.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF12284. HoxA13_N. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHOXC13. human.
GeneWikiHOXC13.
GenomeRNAi3229.
NextBio12851.
PROP31276.
SOURCESearch...

Entry information

Entry nameHXC13_HUMAN
AccessionPrimary (citable) accession number: P31276
Secondary accession number(s): Q5BL02 expand/collapse secondary AC list , Q96J32, Q9NR24, Q9NYD5
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Vertebrate homeotic Hox proteins

Nomenclature of vertebrate homeotic Hox proteins and list of entries