Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HOXC13 (homeobox C13)

Written2009-06Toshiyuki Yamada, Shigeki Tsuchida
Department of Biochemistry, Genome Biology, Hirosaki University Graduate School of Medicine, 5 Zaifu-Cho, Hirosaki 036-8562, Japan

(Note : for Links provided by Atlas : click)

Identity

Other aliasHOX3
HOX3G
LocusID (NCBI) 3229
Atlas_Id 473
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HOXC13 (12q13.13) / NUP98 (11p15.4)NUP98 (11p15.4) / HOXC13 (12q13.13)

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.

Protein

 
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

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

Bibliography

Hoxc13 mutant mice lack external hair.
Godwin AR, Capecchi MR.
Genes Dev. 1998 Jan 1;12(1):11-20.
PMID 9420327
 
Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13).
La Starza R, Trubia M, Crescenzi B, Matteucci C, Negrini M, Martelli MF, Pelicci PG, Mecucci C.
Genes Chromosomes Cancer. 2003 Apr;36(4):420-3.
PMID 12619167
 
Coordinate regulation of HOX genes in human hematopoietic cells.
Magli MC, Barba P, Celetti A, De Vita G, Cillo C, Boncinelli E.
Proc Natl Acad Sci U S A. 1991 Jul 15;88(14):6348-52.
PMID 1712489
 
Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).
Panagopoulos I, Isaksson M, Billstrom R, Strombeck B, Mitelman F, Johansson B.
Genes Chromosomes Cancer. 2003 Jan;36(1):107-12. (REVIEW)
PMID 12461755
 
Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia.
Tkatchenko AV, Visconti RP, Shang L, Papenbrock T, Pruett ND, Ito T, Ogawa M, Awgulewitsch A.
Development. 2001 May;128(9):1547-58.
PMID 11290294
 
Interaction between the homeodomain protein HOXC13 and ETS family transcription factor PU.1 and its implication in the differentiation of murine erythroleukemia cells.
Yamada T, Shimizu T, Suzuki M, Kihara-Negishi F, Nanashima N, Sakurai T, Fan Y, Akita M, Oikawa T, Tsuchida S.
Exp Cell Res. 2008 Feb 15;314(4):847-58. Epub 2007 Nov 17.
PMID 18076876
 

Citation

This paper should be referenced as such :
Yamada, T ; Tsuchida, S
HOXC13 (homeobox C13)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(5):452-453.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HOXC13ID473ch12q13.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(11;12)(p15;q13) NUP98/HOXC11::t(11;12)(p15;q13) NUP98/HOXC13
t(11;12)(p15;q13) NUP98/HOXC13
t(11;12)(p15;q13) NUP98/HOXC13
t(1;11)(q24;p15) NUP98/PRRX1
t(11;12)(p15;q13) NUP98/HOXC11::t(11;12)(p15;q13) NUP98/HOXC13
t(11;12)(p15;q13) NUP98/HOXC13
t(11;12)(p15;q13) NUP98/HOXC13


External links

Nomenclature
Cards
AtlasHOXC13ID473ch12q13.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)3229
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 18 17:38:56 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.