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

Gene ID: 729956, updated on 18-Sep-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; regulation of signaling receptor activity; and regulation of synaptic plasticity. 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. Predicted to be integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 7.7), testis (RPKM 0.8) and 1 other tissue See more
Orthologs
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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 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)

Genotypes

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.

Chemical Information
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