HOXC13 (homeobox C13)

2009-06-01   Toshiyuki Yamada , Shigeki Tsuchida 

Department of Biochemistry, Genome Biology, Hirosaki University Graduate School of Medicine, 5 Zaifu-Cho, Hirosaki 036-8562, Japan

Identity

HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
ECTD9,HOX3,HOX3G
FUSION GENES

DNA/RNA

Description

Spans around 7.7 kb genomic region, contains 2 exons, homeodomain is located in exon 2.

Transcription

Transcript; 2.2 kb, open reading frame; 990 bp.

Proteins

Atlas Image

Description

330 amino acids, DNA binding protein with a 60 aa of homeodomain (helix-turn-helix domain) in the C-terminal.

Expression

In nail, hair follicle, tongue (filiform papilla), AML cells, erythroleukemia cells.

Localisation

Nucleus.

Function

Important for patterning of embryo, role in hair follicular formation and hair cycle control, role in leukemogenesis of myeloid cells and differentiation of erythroleukemia cells.

Homology

With homeodomain proteins, ABD-B homeodomain proteins.

Mutations

Germinal

Not known.

Somatic

Not known.

Implicated in

Entity name
t(11;12)(p15;q13)
Disease
AML-M2
Cytogenetics
Chromosome translocation formimg a fusion transcript of 5 NUP98 gene and 3 HOXC13 gene.
Hybrid gene
5 NUP98-3 HOXC13.
Fusion protein
Fusion between FG motifs of NUP98 and the homeodomain of HOXC13.
Atlas Image
Entity name
Cytogenetics
Not examined.
Hybrid gene
Not examined.
Oncogenesis
Expressed in human and mouse erythroleukemia cells, overexpression of HOXC13 inhibits differentiation of murine erythroleukemia (MEL) cells.

Bibliography

Pubmed IDLast YearTitleAuthors
94203271998Hoxc13 mutant mice lack external hair.Godwin AR et al
126191672003Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13).La Starza R et al
17124891991Coordinate regulation of HOX genes in human hematopoietic cells.Magli MC et al
124617552003Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).Panagopoulos I et al
112902942001Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia.Tkatchenko AV et al
180768762008Interaction between the homeodomain protein HOXC13 and ETS family transcription factor PU.1 and its implication in the differentiation of murine erythroleukemia cells.Yamada T et al

Other Information

Locus ID:

NCBI: 3229
MIM: 142976
HGNC: 5125
Ensembl: ENSG00000123364

Variants:

dbSNP: 3229
ClinVar: 3229
TCGA: ENSG00000123364
COSMIC: HOXC13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123364ENST00000243056P31276

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
209356292010Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.396
225836952012Increased HOX C13 expression in metastatic melanoma progression.18
153855542004Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13.14
230636212012Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.14
191825172009The homeotic protein HOXC13 is a member of human DNA replication complexes.10
240851962013Hyperexpression of HOXC13, located in the 12q13 chromosomal region, in well‑differentiated and dedifferentiated human liposarcomas.9
256916582015YAP regulates the expression of Hoxa1 and Hoxc13 in mouse and human oral and skin epithelial tissues.9
291685992018HOXC13 promotes proliferation of esophageal squamous cell carcinoma via repressing transcription of CASP3.9
305369502019Long noncoding RNA HOXC13-AS positively affects cell proliferation and invasion in nasopharyngeal carcinoma via modulating miR-383-3p/HMGA2 axis.9
206616632011Knockdown of BMI-1 causes cell-cycle arrest and derepresses p16INK4a, HOXA9 and HOXC13 mRNA expression in HeLa cells.7

Citation

Toshiyuki Yamada ; Shigeki Tsuchida

HOXC13 (homeobox C13)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/473/hoxc13-(homeobox-c13)