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FLASH GENE

Symbol

HOXA13

contributors: mct - updated : 28-03-2016

HGNC name	homeo box A13
HGNC id	5102

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GTMS Guttmacher syndrome HFG hand-foot-genital syndrome
Location	7p15.2      Physical location : 27.236.498 - 27.239.725
Synonym name	homeo box A13(1J)
	transcription factor HOXA13
	homeobox protein Hox-1J
Synonym symbol(s)	HOX1J, HOX1, HXAD, PDPPH

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	3.23 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map

see HOXA@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000522 2 - 2514 NP_000513 - 388 - Williams (2005)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Reproductive male system prostate     moderately Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

Text	the developing lower genitourinary tract (seminal vesicle and prostate )development and distal limbs

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal polyalanine stretch, N-terminal arm (residues 324 - 329) that binds in the DNA minor groove,
	helix-turn-helix (three alpha helices)
	DNA binding domain
	a C-terminal helix (residues 362 - 382) that contacts the ATAA nucleotide sequence in the major groove

HOMOLOGY

interspecies

homolog to murine Hox-1.10 (hypodactyly)

intraspecies

homolog to HOXB13

Homologene

FAMILY

abd-b homeobox proteins family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nucleus

basic FUNCTION	participating to a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
	plays an essential role in placental labyrinth vessel formation
	potential role for HOXA13 in the organization of the cells necessary to delineate individual carpal/tarsal elements
	transcription factor protein that binds to AT-rich DNA sequences and controls expression of genes during embryonic morphogenesis
	developmental strategy specific to placental mammals is linked, at least in part, to the recruitment of HOXA13 function in developing extra-embryonic tissues
	HOXA10 and HOXA13 are involved in the development of human genitalia
	pivotal role of HOXA13 and HOXD13 proteins in the transition from a proximal to a distal type of HOXD transcriptional regulation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	morphogenesis
	bone and genito-urinary tract development and maintenance

PATHWAY

metabolism

signaling

a component

its dimerization is required to activate transcription of target genes

INTERACTION

DNA

RNA

small molecule

protein	directly regulates EPHA6 and EPHA7 in the developing GT (genital tubercle) and identifies the GT vascular endothelia as a novel site for HOXA13-dependent expression of EPHA6 and EPHA7)
	directly regulates TEK and FOXF1 in the placental labyrinth endothelia
	GDF5 is a potential target gene of HOXA13 target gene, which confirm a specific role for HOXA13 during appendicular skeletal development
	ALDH1A2 is a direct target of HOXA13, and in the limb, HOXA13 binds a conserved cis-regulatory element in the ALDH1A2 locus that can be regulated by HOXA13 to promote gene expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HFG , GTMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in hypodactyly mutants tumoral fusion       fused with NUP98 int (7;11) (p15;p15) in acute myeloid leukemia constitutional       loss of function severely disrupts embryonic limb development

Susceptibility

Variant & Polymorphism repeat	polyalanine repeat expansion associated with HFG

Candidate gene
Marker	is a negative independent predictor of disease-free survival of patients with esophageal squamous cell carcinoma
Therapy target

ANIMAL & CELL MODELS

	defects in interdigital programmed cell death (IPCD) and digit separation in Hoxa13 mutant mice may be caused in part by reduced levels of retinoic acid
	loss of Hoxa13 and Hoxd13 transcription factors (Hox13) leads to digit agenesis in mice