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    SHISA7 shisa family member 7 [ Homo sapiens (human) ]

    Gene ID: 729956, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SHISA7provided by HGNC
    Official Full Name
    shisa family member 7provided by HGNC
    Primary source
    HGNC:HGNC:35409
    See related
    Ensembl:ENSG00000187902 MIM:617328; AllianceGenome:HGNC:35409
    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
    CKAMP59
    Summary
    Predicted to enable GABA receptor binding activity and ionotropic glutamate receptor binding activity. Predicted to be involved in several processes, including gamma-aminobutyric acid receptor clustering; modulation of chemical synaptic transmission; and regulation of GABA-A receptor activity. Predicted to be located in asymmetric, glutamatergic, excitatory synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in glutamatergic synapse; postsynaptic density; and synaptic membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 7.7), testis (RPKM 0.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SHISA7 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55428740..55443300, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58524194..58538751, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55940107..55954667, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55915190-55915690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55915691-55916191 Neighboring gene small nucleolar RNA, C/D box 157 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:55918619-55919132 Neighboring gene ubiquitin conjugating enzyme E2 S Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11031 Neighboring gene Sharpr-MPRA regulatory region 8373 Neighboring gene uncharacterized LOC105372462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55930479-55931048 Neighboring gene MPRA-validated peak3567 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55953359-55953987 Neighboring gene Sharpr-MPRA regulatory region 4976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11034 Neighboring gene isochorismatase domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55974394-55975116 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55975839-55976561 Neighboring gene chromosome 19 open reading frame 85

    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. Enhancer Function of MicroRNA-3681 Derived from Long Terminal Repeats Represses the Activity of Variable Number Tandem Repeats in the 3' UTR of SHISA7. Lee HE, et al. Mol Cells, 2020 Jul 31. PMID 32655015, Free PMC Article
    2. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Enhancer Function of MicroRNA-3681 Derived from Long Terminal Repeats Represses the Activity of Variable Number Tandem Repeats in the 3' UTR of SHISA7.
      Title: Enhancer Function of MicroRNA-3681 Derived from Long Terminal Repeats Represses the Activity of Variable Number Tandem Repeats in the 3' UTR of SHISA7.
    Submit: New GeneRIF Correction

    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

    • FLJ34341, FLJ37640, FLJ45290, MGC120935, MGC138402, DKFZp547H0214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT enables ionotropic glutamate receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in gamma-aminobutyric acid receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid receptor clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in regulation of AMPA glutamate receptor clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in regulation of AMPA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of GABA-A receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    NOT part_of AMPA glutamate receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT located_in asymmetric, glutamatergic, excitatory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in dendritic spine membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT located_in glutamatergic synapse 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
    		  
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein shisa-7
    Names
    GABA(A) receptor auxiliary subunit Shisa7
    UPF0626 protein A
    cystine-knot AMPAR modulating protein of 59 kDa
    shisa homolog 7

    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_001145176.2 → NP_001138648.1  protein shisa-7 precursor

      See identical proteins and their annotated locations for NP_001138648.1

      Status: VALIDATED

      Source sequence(s)
      AC135592
      Consensus CDS
      CCDS46193.1
      UniProtKB/Swiss-Prot
      A6NL88
      UniProtKB/TrEMBL
      H7C1N4
      Related
      ENSP00000365503.3, ENST00000376325.10
      Conserved Domains (1) summary
      pfam13908
      Location:80 → 133
      Shisa; Wnt and FGF inhibitory regulator

    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
      55428740..55443300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58524194..58538751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175908.3: Suppressed sequence

      Description
      NM_175908.3: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NL88.3 GenPept UniProtKB/Swiss-Prot:A6NL88

    Gene LinkOut

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

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