SHANK1 - SH3 and multiple ankyrin repeat domains 1 Gene

Homo sapiens

Also known as SSTRIP; SPANK-1; synamon

Gene ID: 50944 | Gene type: protein coding

About SHANK1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,659,255-50,719,802 (from NCBI)

This gene has 7 transcripts (splice variants), 257 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 17.7) and adrenal (RPKM 0.7).

Summary

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. [provided by RefSeq, Apr 2016]

SHANK1 Products(1)

mRNA	Protein	Name
NM_016148.5	NP_057232.2	SH3 and multiple ankyrin repeat domains protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10551867	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adult behavior	IMP IMP: Inferred from mutant phenotype	22503632	GOA
involved in determination of affect	IMP IMP: Inferred from mutant phenotype	22503632	GOA
involved in social behavior	IMP IMP: Inferred from mutant phenotype	22503632	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	22503632	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	10551867	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SHANK1 Protein Structure

Ank_2

SH3_2

PDZ

SAM_1

0
400
800
1200
1600
2000
2161 a.a.

Protein Preferred Names

Protein Names

SH3 and multiple ankyrin repeat domains protein 1

SSTR-interacting protein

Related Diseases

Diseases

Alias

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Schizophrenia 15

SCZD15	Schizophrenia 15 With Or Without An Affective Disorder
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related	Schizophrenia Susceptibility Locus Chromosome 22q13-Related
Schizophrenia, Type 15

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome	22q13.3 Deletion Syndrome
Telomeric 22q13 Monosomy Syndrome	PHMDS
Deletion 22q13 Syndrome	22q13.3 Deletion
Deletion 22q13.3 Syndrome	Monosomy 22q13
Monosomy 22q13.3	22q13 Deletion Syndrome
Monosomy 22q13 Syndrome	22q13 Deletion
Chromosome Deletion

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Chromosomal Deletion Syndrome

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Atrial Septal Defect 2

ASD2	Atrial Heart Septal Defect 2
Atrial Septal Defect-2	Asd Ii
Septal Defect, Atrial, Type 2

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12850	SHANK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SHANK1	VGNC	VGNC:53977
Mus musculus	SHANK1	MGD	MGI:3613677
Bos taurus	SHANK1	VGNC	VGNC:34585
Rattus norvegicus	SHANK1	RGD	RGD:621011
Macaca mulatta	SHANK1	VGNC	VGNC:77236

Name
Email *

	Sorry, but the email address you supplied was invalid.