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FLASH GENE

Symbol

SNTB1

contributors: mct - updated : 18-09-2018

HGNC name	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
HGNC id	11168

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q24.12      Physical location : 121.547.985 - 121.824.309
Synonym name	59 kDa dystrophin-associated protein A1 basic component 1
	dystrophin-associated protein A1, 59kD, basic component 1
	syntrophin-2
	tax interaction protein 43
Synonym symbol(s)	DAPA1B, DAPA1B1, SNT2B1, BSYN2, SNT2, TIP-43, 59-DAP, A1B

DNA

TYPE	functioning gene
STRUCTURE	276.32 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see HAS2

RNA

TRANSCRIPTS	type	messenger

text	at least five distinct transcripts (Ahn)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed - - - 5900 - - - 1996 8576247 NM_021021 7 - 4975 NP_066301 - 538 - 1996 8576247 - - - 4300 - - - 1996 8576247 - - - 3100 - - - 1996 8576247 - - - 1500 - - - 1996 8576247

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 Cardiovascular heart           vessel         Digestive intestine large intestine colon   highly   liver       highly Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two pleckstrin homology (PH) domains
	a PDZ (PSD95/disc large/ZO1) domain, embedded in the first PH domain,basic,nine potential phosphorylation sites
	SU (syntrophin unique) domain

HOMOLOGY

interspecies

ortholog to murine Sntb1

Homologene

FAMILY

syntrophin gene family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	involved in clustering of acetylcholine receptors
	peripheral membrane adapter protein associated with
	organization of subcellular localization of several membrane
	proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

ADRA1D-a key regulator of cardiovascular, urinary and CNS function-binds the syntrophin family of PDZ domain proteins (SNTA, SNTB1, and SNTB2) through a C-terminal PDZ ligand interaction, ensuring receptor plasma membrane localization and G-protein coupling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   expressed in B-chronic lymphocytic leukemia (B-CLL) cells

Susceptibility

to oral cancer

Variant & Polymorphism SNP	SNPs rs10090787, rs12679182 associated with increased/decreased risk to oral cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS