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FLASH GENE

Symbol

SEMA5A

contributors: mct/npt - updated : 22-01-2014

HGNC name	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
HGNC id	10736

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDCS Cri-du-Chat syndrome
Location	5p15.31      Physical location : 9.035.137 - 9.546.233
Synonym name	semaphorin-F
	human Cri-du-chat region mRNA, clone CSA1
	semaphorin 5A
	thrombospondin-related, in the CDCCR region
Synonym symbol(s)	SEMAF, semF, FLJ12815, THBSR

DNA

TYPE	functioning gene
STRUCTURE	511.10 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

located in the cri-du-chat critical region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003966 30 splicing 11825 NP_003957 120.5 1074 - Beausoleil (2004)

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Hearing/Equilibrium ear       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eyes, optic nerve

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal signal peptide
	an extracellular SEMA domain
	seven type 1 thrombospondin repeats

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to rattus Sema5a (93.2 pc)
	homolog to murine Sema5a (93.7 pc)

Homologene

FAMILY

semaphorin family

CATEGORY

adhesion , signaling growth factor

SUBCELLULAR LOCALIZATION	plasma membrane
text	single-pass type I membrane protein

basic FUNCTION	involved in axonal guidance during neural development
	able to elicit multiple functional responses through its receptor plexin-B3 (PLXNB3)
	axon-guidance-pathway molecules are involved in connectivity and repair throughout life
	SEMA5A and its receptor PLXNB3 play an important role in the invasion and metastasis of gastric carcinoma
	promotes angiogenesis by increasing endothelial cell proliferation, migration, and decreasing apoptosis
	SEMA5A and PLXNB3 impede motility but promote differentiation of human gliomas
	SEMA5A, SEMA5B control selective retinal lamination and function

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

development

text	neurogenesis

PATHWAY

metabolism

signaling

cell-cell signaling

a component

protein constituent of transmembrane

INTERACTION

DNA

RNA

small molecule

protein	binding to PLXNB3, a high-affinity receptor
	specific for SEMA5A (activation by SEMA5A mediates functional responses in plexin-B3-expressing cells, either fibroblasts, epithelial and primary endothelial cells)
	SEMA5A and SEMA5B inhibit retinal neurite outgrowth through PlexinA1 and PlexinA3 receptors

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDCS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in autism

Susceptibility

to Parkinson disease (PD)

Variant & Polymorphism other	AC haplotype was associated with a significant increased risk of PD and the AT haplotype showed an associated decreased risk of PD

Candidate gene	in the etiology of idiopathic autism
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma SEMA5A and PLXNB3 represent potential novel targets in counteracting glioma progression

ANIMAL & CELL MODELS

Sema5A deficient mice display a defective branching of cranial vasculature, supporting its participation in blood vessel formation