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    INSYN1 inhibitory synaptic factor 1 [ Homo sapiens (human) ]

    Gene ID: 388135, updated on 27-Nov-2024

    Summary

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    Official Symbol
    INSYN1provided by HGNC
    Official Full Name
    inhibitory synaptic factor 1provided by HGNC
    Primary source
    HGNC:HGNC:33753
    See related
    Ensembl:ENSG00000205363 MIM:617128; AllianceGenome:HGNC:33753
    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
    C15orf59
    Summary
    Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 6.6), heart (RPKM 2.3) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INSYN1 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73735458..73753351, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71552818..71570722, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74027799..74045692, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:73975613-73976121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6638 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:73977139-73977645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:73988434-73988945 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:73988946-73989458 and GRCh37_chr15:73989459-73989969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6639 Neighboring gene CD276 molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:73994347-73995068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74043809-74044582 Neighboring gene INSYN1 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:74066905-74068104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74089589-74090547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74091135-74091814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74091815-74092493 Neighboring gene uncharacterized LOC105370892

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Open reading frames associated with cancer in the dark matter of the human genome. Delgado AP, et al. Cancer Genomics Proteomics, 2014 Jul-Aug. PMID 25048349
    2. Identification of an elaborate complex mediating postsynaptic inhibition. Uezu A, et al. Science, 2016 Sep 9. PMID 27609886, Free PMC Article
    3. Protein phosphatase 1γ isoforms linked interactions in the brain. Esteves SL, et al. J Mol Neurosci, 2013 May. PMID 23080069
    4. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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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    Markers

    Homology

    Clone Names

    • MGC131524

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inhibitory postsynaptic potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inhibitory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in postsynaptic specialization organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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    Preferred Names
    inhibitory synaptic factor 1
    Names
    UPF0583 protein C15orf59
    inhibitory synaptic protein 1

    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_001039614.3 → NP_001034703.1  inhibitory synaptic factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001034703.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC022188
      Consensus CDS
      CCDS32289.1
      UniProtKB/Swiss-Prot
      Q2T9L4
      Related
      ENSP00000457205.1, ENST00000569673.3
      Conserved Domains (1) summary
      pfam15252
      Location:52 → 280
      DUF4589; Domain of unknown function (DUF4589)

    2. NM_001303254.2 → NP_001290183.1  inhibitory synaptic factor 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC022188
      Conserved Domains (1) summary
      pfam15252
      Location:24 → 252
      DUF4589; Domain of unknown function (DUF4589)

    3. NM_001384351.1 → NP_001371280.1  inhibitory synaptic factor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022188
      Consensus CDS
      CCDS32289.1
      UniProtKB/Swiss-Prot
      Q2T9L4
      Conserved Domains (1) summary
      pfam15252
      Location:52 → 280
      DUF4589; Domain of unknown function (DUF4589)

    4. NM_001384352.1 → NP_001371281.1  inhibitory synaptic factor 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022188
      Conserved Domains (1) summary
      pfam15252
      Location:1 → 139
      DUF4589; Domain of unknown function (DUF4589)

    5. NM_001384353.1 → NP_001371282.1  inhibitory synaptic factor 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022188
      Conserved Domains (1) summary
      pfam15252
      Location:1 → 139
      DUF4589; Domain of unknown function (DUF4589)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      73735458..73753351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432489.1 → XP_047288445.1  inhibitory synaptic factor 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      71552818..71570722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377894.1 → XP_054233869.1  inhibitory synaptic factor 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2T9L4.1 GenPept UniProtKB/Swiss-Prot:Q2T9L4

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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