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FLASH GENE

Symbol

HOXA5

contributors: mct - updated : 19-05-2012

HGNC name	homeobox A5
HGNC id	5106

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7p15.2      Physical location : 27.180.995 - 27.183.287
Synonym name	homeo box A5(1C)
Synonym symbol(s)	HOX1C, HOX1.3, HOX1, MGC9376

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	homeobox gene A cluster
STRUCTURE	2.62 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see HOXA@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_019102 2 - 1657 NP_061975 - 270 - 2005 15757903

EXPRESSION

Type

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 Digestive intestine large intestine colon   highly   intestine small intestine     moderately   mouth       highly Endocrine neuroendocrine pituitary     moderately Reproductive male system testis     highly Respiratory lung       moderately Homo sapiens   respiratory tract trachea     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	during early myelopoiesis, during embryogenesis and predominantly in umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an homeobox DNA binding domain
	a protein transduction domain, with a role in protein transduction that may be useful in the suppression of vascular activation or vascular inflammatory disorders

secondary structure

helix-turn-helix

HOMOLOGY

interspecies	homolog to rattus Hoxa5 (97.8 pc)
	homolog to murine Hoxa5 (97.8 pc)

intraspecies

paralog to HOXB5

Homologene

FAMILY

Antp homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in the developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
	upregulating both TP53 promoter-reporter constructs and endogenous P53 synthesis
	inhibiting erythropoiesis
	promoting myelopoiesis
	involved in the regulation of hematopoietic lineage determination and maturation
	central role for HOXA5 in coordinating a stable vascular phenotype
	playing an important role in tumorigenesis step in growth and homeostasis in breast cells
	absent in activated angiogenic endothelial cells and can block angiogenesis
	can specifically activate the pleiotrophin promoter
	regulates both TP53 and progesterone receptor expression levels in breast cancer cells
	may play a role in maintaining the differentiated state within the breast epithelium
	stroma-specific gene, playing a significant role in ovarian biology and may be involved in ovarian cancer predisposition
	HOXA5 and HOXC5, control diverse aspects of phrenic motor column (PMC) development including their clustering, intramuscular branching, and survival
	HOXA5 and HOXB5 paralog genes shared some functions during lung morphogenesis, but HOXA5 playing a predominant role
	is required for forelimb anterior patterning

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding specifically to the motif 5'-CYYNATTA[TG]Y-3'
	binding to its own promoter

RNA

small molecule

protein	TP53, PR
	transactivator of progesterone receptor
	interacts with promyelocytic leukemia zinc finger (ZBTB16) biochemically and genetically to restrict SHH expression

cell & other

REGULATION

activated by

transcriptionally activated by all-trans retinoic acid (RA)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in nearly 70 p100 of all breast carcinomas tumoral     --low   by hypermethylation in acute myeloid leukemia, but low level of HOXA5 hypermethylation is associated with short-term outcome constitutional   deletion     leads to anterior forelimb defects resulting from derepression of SHH expression

Susceptibility

Variant & Polymorphism

Candidate gene	candidate gene of androgen-mediated promoter methylation
Marker
Therapy target

ANIMAL & CELL MODELS

deregulation of the estrous cycle and the presence of ovarian epithelial cysts in Hoxa5(-/-) older murine females correlate with a reduced expression of specific epidermal growth factor receptor signaling components, namely Egfr, Areg, and Btc