country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Country or Region:

United States

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

SHANK1 - SH3 and multiple ankyrin repeat domains 1 Gene

Also Known as SSTRIP; SPANK-1; synamon

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50944

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	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10551867	GOA

Biological Process GO Annotation	Evidence	Références	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	Références	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

SHANK1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SHANK1	Q9Y566	RPS6KA2	Homo sapiens	Q15349	P8 Filamentous Phage	30126976
Intra	SHANK1	Q9Y566	RPS6KA2	Homo sapiens	Q15349	MST	30126976
Intra	SHANK1	Q9Y566	ACE2	Homo sapiens	Q9BYF1	Pull Down	34835087

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12850	SHANK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SHANK1	NCBI