SHANK1 SH3 and multiple ankyrin repeat domains 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SHANK1provided by HGNC
Official Full Name: SH3 and multiple ankyrin repeat domains 1provided by HGNC
Primary source: HGNC:HGNC:15474
See related: Ensembl:ENSG00000161681 MIM:604999; AllianceGenome:HGNC:15474
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SSTRIP; SPANK-1; synamon
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]
Expression: Biased expression in brain (RPKM 17.7) and adrenal (RPKM 0.7) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (50659255..50719802, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (53747980..53808613, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51162512..51223059, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Title: A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Title: Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.
Title: Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.
The roles of SHANK1 in the development of colon cancer.
Title: The roles of SHANK1 in the development of colon cancer.
SH3 and multiple ankyrin repeat domains protein (SHANK) family includes the three multidomain structural proteins (SHANK1, SHANK2, and SHANK3) that enrich in excitatory glutamatergic synapses in mammalian brain.
Title: SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age.
Authors summarize and discuss behavioral and neuronal findings obtained in the Shank1 knockout mouse model for Autism spectrum disorder (ASD); identify open research questions by comparing such findings with the symptoms present in humans diagnosed with ASD and carrying SHANK1 deletions; conclude by discussing the implications of the behavioral and neuronal phenotypes displayed by the Shank1 knockout mouse model.
Title: Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective.
SHANK1 and SHANK3 act as integrin activation inhibitors by sequestering active Rap1 and R-Ras via the SPN domain and thus limiting their bioavailability at the plasma membrane.
Title: SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras.
Data show that the Shank1 protein mRNA 3' UTR adopts two very stable intramolecular G-quadruplexes which are bound specifically and with high affinity by X mental retardation protein (FMRP).
Title: FMRP interacts with G-quadruplex structures in the 3'-UTR of its dendritic target Shank1 mRNA.
a non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA
Title: A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA.
The results of this study suggested a role of SHANK1 in working memory deficits in schizophrenia.
Title: A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-03-27) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-03-27) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables ankyrin repeat binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables ionotropic glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ionotropic glutamate receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables scaffold protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables somatostatin receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of postsynaptic density	IEA Inferred from Electronic Annotation more info
enables synaptic receptor adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables synaptic receptor adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in associative learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of affect	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in habituation	IEA Inferred from Electronic Annotation more info
involved_in long-term memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of postsynaptic density structure	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of actin filament bundle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular process controlling balance	ISS Inferred from Sequence or Structural Similarity more info
involved_in olfactory behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendritic spine development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of AMPA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in righting reflex	IEA Inferred from Electronic Annotation more info
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in vocalization behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	NAS Non-traceable Author Statement more info	PubMed
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in excitatory synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: SH3 and multiple ankyrin repeat domains protein 1

Names: SSTR-interacting protein; somatostatin receptor-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016148.5 → NP_057232.2 SH3 and multiple ankyrin repeat domains protein 1

See identical proteins and their annotated locations for NP_057232.2

Status: VALIDATED

Source sequence(s)

AC008743, AC010325, AF163302, EU872208

Consensus CDS

CCDS12799.1

UniProtKB/Swiss-Prot

A8MXP5, B7WNY6, Q9NYW9, Q9Y566

Related

ENSP00000293441.1, ENST00000293441.6

Conserved Domains (8) summary

cd09506
Location:2094 → 2159

SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins

smart00454
Location:2097 → 2161

SAM; Sterile alpha motif

cd00204
Location:274 → 399

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd00992
Location:661 → 754

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12796
Location:285 → 377

Ank_2; Ankyrin repeats (3 copies)

pfam16511
Location:73 → 156

FERM_f0; N-terminal or F0 domain of Talin-head FERM

sd00045
Location:246 → 277

ANK; ANK repeat [structural motif]

cl17036
Location:557 → 608

SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

50659255..50719802 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527014.3 → XP_011525316.1 SH3 and multiple ankyrin repeat domains protein 1 isoform X2

UniProtKB/Swiss-Prot

Q9Y566

Related

ENSP00000351984.2, ENST00000359082.3

Conserved Domains (8) summary

cd09506
Location:2085 → 2150

SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins

smart00454
Location:2088 → 2152

SAM; Sterile alpha motif

cd11982
Location:557 → 608

SH3_Shank1; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 1

cd00204
Location:274 → 399

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd00992
Location:652 → 745

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12796
Location:285 → 377

Ank_2; Ankyrin repeats (3 copies)

pfam16511
Location:73 → 156

FERM_f0; N-terminal or F0 domain of Talin-head FERM

sd00045
Location:246 → 277

ANK; ANK repeat [structural motif]
XM_011527013.3 → XP_011525315.1 SH3 and multiple ankyrin repeat domains protein 1 isoform X1

UniProtKB/TrEMBL

H9KV90

Related

ENSP00000375690.1, ENST00000391814.5

Conserved Domains (8) summary

cd09506
Location:2102 → 2167

SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins

smart00454
Location:2105 → 2169

SAM; Sterile alpha motif

cd00204
Location:274 → 399

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd00992
Location:661 → 754

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12796
Location:285 → 377

Ank_2; Ankyrin repeats (3 copies)

pfam16511
Location:73 → 156

FERM_f0; N-terminal or F0 domain of Talin-head FERM

sd00045
Location:246 → 277

ANK; ANK repeat [structural motif]

cl17036
Location:557 → 608

SH3; Src Homology 3 domain superfamily
XM_047438894.1 → XP_047294850.1 SH3 and multiple ankyrin repeat domains protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

53747980..53808613 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321138.1 → XP_054177113.1 SH3 and multiple ankyrin repeat domains protein 1 isoform X2
XM_054321137.1 → XP_054177112.1 SH3 and multiple ankyrin repeat domains protein 1 isoform X1

UniProtKB/TrEMBL

H9KV90
XM_054321139.1 → XP_054177114.1 SH3 and multiple ankyrin repeat domains protein 1 isoform X3