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FLASH GENE

Symbol

HOXA1

contributors: npt/mct/pgu - updated : 27-06-2017

HGNC name	homeobox A1
HGNC id	5099

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

interspecies	homolog to murine Hox-1.6
	homolog to Drosophila 1ab

Homologene

FAMILY	ANTP homeobox family
	labial subfamily

CATEGORY

regulatory , DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	expressed in cranial and nerve structure only

basic FUNCTION	play important roles in patterning segmental units (rhombomeres)
	play important roles in patterning segmental units (rhombomeres)involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development
	necessary for the proper development of the brainstem, inner ear and heart
	acts in a genetic cascade upstream of genes controlling specific aspects of embryonic development, thereby providing insight into possible mechanisms underlying the HoxA1-syndrome (ABSD)
	HOXA1 displays an unexpectedly long half-life and PRDM14 can reduce the stability and affect the transcriptional activity of HOXA1

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	NR2F1 is involved in the regulatory modulation of the expression of at least two genes, CYP26A1 and HOXA1
	HOXA1 binds RBCK1 and TRAF2 and modulates the TNF/NFKB1 pathway in a transcription-independent manner
	PRDM14 is an interactor of HOXA1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ABSD

Susceptibility

to autism, with incraesed head growth rates to smaller cerebellar volume in healthy humans

Variant & Polymorphism other	G218 allele associated to increased head growth rates in autism
	A218G polymorphism is associated with smaller cerebellar volume in healthy humans

Candidate gene	DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC
Marker
Therapy target

ANIMAL & CELL MODELS