TMEM35A transmembrane protein 35A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM35Aprovided by HGNC
Official Full Name: transmembrane protein 35Aprovided by HGNC
Primary source: HGNC:HGNC:25864
See related: Ensembl:ENSG00000126950 AllianceGenome:HGNC:25864
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: NACHO; TUF-1; TMEM35
Summary: Enables acetylcholine receptor regulator activity. Involved in chaperone-mediated protein complex assembly and positive regulation of protein localization to cell surface. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 18.3), prostate (RPKM 12.0) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (101078879..101096367)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99522299..99539787)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (100333868..100351356)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unbalanced Regulation of alpha7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease.
Title: Unbalanced Regulation of α7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease.
NACHO and 14-3-3 promote expression of distinct subunit stoichiometries of the alpha4beta2 acetylcholine receptor.
Title: NACHO and 14-3-3 promote expression of distinct subunit stoichiometries of the α4β2 acetylcholine receptor.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine receptor regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine receptor regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone-mediated protein complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to cell surface	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in peroxisomal membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: novel acetylcholine receptor chaperone

Names: nAChR regulator; nicotinic acetylcholine receptor regulator; transmembrane protein 35

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.