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

Gene ID: 50944, updated on 2-Mar-2021

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
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
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Genomic context

See SHANK1 in Genome Data Viewer
Location:
19q13.33
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50659255..50719802, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51162512..51223059, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene synaptotagmin 3 Neighboring gene Sharpr-MPRA regulatory region 12037 Neighboring gene Sharpr-MPRA regulatory region 12891 Neighboring gene chromosome 19 open reading frame 81 Neighboring gene CRISPRi-validated cis-regulatory element chr19.5690 Neighboring gene C-type lectin domain containing 11A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ankyrin repeat binding ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ionotropic glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ionotropic glutamate receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein C-terminus binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
somatostatin receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic receptor adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic receptor adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
associative learning ISS
Inferred from Sequence or Structural Similarity
more info
 
behavior IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of affect IMP
Inferred from Mutant Phenotype
more info
PubMed 
long-term memory ISS
Inferred from Sequence or Structural Similarity
more info
 
long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
neuromuscular process controlling balance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendritic spine development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of dendritic spine development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of excitatory postsynaptic potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic growth at neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with NMDA selective glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite NAS
Non-traceable Author Statement
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with ionotropic glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with ionotropic glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

  1. NM_016148.5NP_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
    Q9Y566
    Related
    ENSP00000293441.1, ENST00000293441.5
    Conserved Domains (8) summary
    cd09506
    Location:20942159
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:20972161
    SAM; Sterile alpha motif
    cd00204
    Location:274399
    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:661754
    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:285377
    Ank_2; Ankyrin repeats (3 copies)
    pfam16511
    Location:73156
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
    sd00045
    Location:246277
    ANK; ANK repeat [structural motif]
    cl17036
    Location:557608
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    50659255..50719802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527014.2XP_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:20852150
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:20882152
    SAM; Sterile alpha motif
    cd11982
    Location:557608
    SH3_Shank1; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 1
    cd00204
    Location:274399
    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:652745
    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:285377
    Ank_2; Ankyrin repeats (3 copies)
    pfam16511
    Location:73156
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
    sd00045
    Location:246277
    ANK; ANK repeat [structural motif]
  2. XM_011527013.2XP_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:21022167
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:21052169
    SAM; Sterile alpha motif
    cd00204
    Location:274399
    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:661754
    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:285377
    Ank_2; Ankyrin repeats (3 copies)
    pfam16511
    Location:73156
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
    sd00045
    Location:246277
    ANK; ANK repeat [structural motif]
    cl17036
    Location:557608
    SH3; Src Homology 3 domain superfamily
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