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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

NoName (e-PCR)
- UniSTS:484430

NIB1495 (e-PCR)
- UniSTS:21910

RH98724 (e-PCR)
- UniSTS:85988

RH11812 (e-PCR)
- UniSTS:42739

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)

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

55428740..55443300 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.