SH3 and Multiple Ankyrin Repeat Domains 1

Alternative Names

SHANK1
Somatostatin Receptor-Interacting Protein
SSTRIP

Length

60,548 bases

No. of Exons

No. of isoforms

Protein Name

SH3 and multiple ankyrin repeat domains protein 1

Molecular Mass

224959 Da

Amino Acid Count

2161

Genomic Location

chr19:50,659,254-50,719,801

Gene Map Locus

19q13.33

Description

This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016148.3:c.1459C>T	United Arab Emirates	NC_000019.10:g.50703594G>A		Pathogenic	Autism	NM_016148.3:c.1459C>T; NP_057232.2:p.Arg487Ter	1481983894

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=shank1

Contributors

Pratibha Nair: 03.02.2022

Edit History

Pratibha Nair: 03.02.2022

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