Gja10 gap junction protein, alpha 10 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gja10provided by MGI
Official Full Name: gap junction protein, alpha 10provided by MGI
Primary source: MGI:MGI:1339969
See related: Ensembl:ENSMUSG00000051056 AllianceGenome:MGI:1339969
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cx59; Cxnn; cx57; Cx-57
Summary: Enables gap junction channel activity. Acts upstream of or within detection of light stimulus involved in visual perception; gamete generation; and synapse assembly. Located in gap junction. Is expressed in several structures, including gonad; heart; intestine; lung; and metanephros. Orthologous to human GJA10 (gap junction protein alpha 10). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 4 A5; 4 14.25 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (32594595..32607382, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (32600865..32602382, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets.
Title: Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets.
Study showed that mouse horizontal cells establish a coupled dendritic network by Cx57 and two coupled axon terminal networks, one made of Cx50 and the other made of Cx57 channels
Title: Connexin50 couples axon terminals of mouse horizontal cells by homotypic gap junctions.
Cx57 positive cells are clustered into small groups to form different patterns in the olfactory epithelium; within the sensory epithelial layer, hybridization signal is visible in sublayers containing cell bodies of basal cells and olfactory neurons.
Title: Expression of connexin 57 in the olfactory epithelium and olfactory bulb.
connexin genes Gjd2 coding for mCx36, Gjc1 coding for mCx45 and Gja10 coding for mCx57 in the mouse, a subset of 4 connexin genes, including the unique GJA9 (Cx59) and GJA10 (Cx62), could be detected at least as transcript isoforms in the human retina.
Title: Expression of connexin genes in the human retina.
The study confirmed the expression of Cx57 in the horizontal cells of the retinal outer plexiform layer, the cerebellum and pre-cerebellar.
Title: Expression of connexin57 in mouse development and in harmaline-tremor model.
the open channel probability of Cx57 gap junctions can be modulated by pH(i) with very high efficiency in the physiologically relevant range and may explain pH-dependent regulation of cell-cell coupling in horizontal cell in the retina
Title: Gating, permselectivity and pH-dependent modulation of channels formed by connexin57, a major connexin of horizontal cells in the mouse retina.
study shows for the first time the detailed location of connexin57 expression within mouse horizontal cells
Title: Connexin57 is expressed in dendro-dendritic and axo-axonal gap junctions of mouse horizontal cells and its distribution is modulated by light.
Decreased oocyte-granulosa cell gap junction communication and connexin expression in a type 1 diabetic mouse model.
Title: Decreased oocyte-granulosa cell gap junction communication and connexin expression in a type 1 diabetic mouse model.
These data thus provide the first quantification of mouse horizontal cell receptive field size and confirm the unique role of Cx57 in horizontal cell coupling and physiology.
Title: Horizontal cell receptive fields are reduced in connexin57-deficient mice.
Cx57 is the first connexin identified in mammalian horizontal cells and the first connexin whose expression is apparently restricted to only one type of neuron.
Title: Functional expression of connexin57 in horizontal cells of the mouse retina.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484878

Gja10 (e-PCR), detects polymorphism
- UniSTS:257096

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamete generation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction alpha-10 protein

Names: connexin n; connexin-57; gap junction membrane channel protein alpha 10

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_001411853.1 → NP_001398782.1 gap junction alpha-10 protein

Status: VALIDATED

Source sequence(s)

AL831746

UniProtKB/Swiss-Prot

A2ANV0, Q9WUS4

UniProtKB/TrEMBL

A0A654ICX6

Related

ENSMUSP00000151323.2, ENSMUST00000219644.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

32594595..32607382 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_010289.2: Suppressed sequence

Description

NM_010289.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.