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

    Gene ID: 50944, updated on 4-Jan-2025

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SHANK1 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene small NF90 (ILF3) associated RNA F Neighboring gene synaptotagmin 3 Neighboring gene Sharpr-MPRA regulatory region 12037 Neighboring gene Sharpr-MPRA regulatory region 12891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14994 Neighboring gene chromosome 19 open reading frame 81 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51165023-51165681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51165682-51166339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10976 Neighboring gene CRISPRi-validated cis-regulatory element chr19.5690 Neighboring gene C-type lectin domain containing 11A Neighboring gene GPR32 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1261 screens)

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding  
    enables ankyrin repeat binding  
    enables identical protein binding  
    enables ionotropic glutamate receptor binding  
    enables ionotropic glutamate receptor binding  
    enables protein binding PubMed 
    enables protein binding  
    enables protein-containing complex binding  
    enables scaffold protein binding  
    enables somatostatin receptor binding  
    enables structural constituent of postsynaptic density  
    enables synaptic receptor adaptor activity  
    enables synaptic receptor adaptor activity  
    Process Evidence Code Pubs
    involved_in adult behavior PubMed 
    involved_in associative learning  
    involved_in dendritic spine morphogenesis  
    involved_in determination of affect PubMed 
    involved_in habituation  
    involved_in long-term memory  
    involved_in maintenance of postsynaptic density structure  
    involved_in negative regulation of actin filament bundle assembly  
    involved_in neuromuscular process controlling balance  
    involved_in olfactory behavior  
    involved_in positive regulation of dendritic spine development  
    involved_in positive regulation of excitatory postsynaptic potential  
    involved_in protein localization to synapse  
    involved_in protein-containing complex assembly  
    involved_in regulation of AMPA receptor activity  
    involved_in righting reflex  
    involved_in social behavior PubMed 
    involved_in synapse maturation  
    involved_in vocalization behavior PubMed 
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse  
    located_in cytosol  
    located_in dendrite PubMed 
    is_active_in dendritic spine  
    located_in dendritic spine  
    located_in excitatory synapse  
    located_in glutamatergic synapse  
    located_in membrane PubMed 
    located_in neuron projection  
    located_in plasma membrane  
    located_in plasma membrane  
    is_active_in postsynaptic density  
    located_in postsynaptic density  
    colocalizes_with postsynaptic membrane  
    colocalizes_with postsynaptic membrane  
    located_in postsynaptic membrane  

    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)

    NEW Try the new Transcript table

    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_016148.5 → 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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. 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]
    2. 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
    3. XM_047438894.1 → XP_047294850.1  SH3 and multiple ankyrin repeat domains protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53747980..53808613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_054321137.1 → XP_054177112.1  SH3 and multiple ankyrin repeat domains protein 1 isoform X1

      UniProtKB/TrEMBL
      H9KV90
    3. XM_054321139.1 → XP_054177114.1  SH3 and multiple ankyrin repeat domains protein 1 isoform X3

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