TMEM63A transmembrane protein 63A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM63Aprovided by HGNC
Official Full Name: transmembrane protein 63Aprovided by HGNC
Primary source: HGNC:HGNC:29118
See related: Ensembl:ENSG00000196187 MIM:618685; AllianceGenome:HGNC:29118
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: HLD19; KIAA0792
Summary: Enables mechanosensitive ion channel activity. Predicted to be involved in cation transmembrane transport. Located in centriolar satellite and lysosomal membrane. Implicated in hypomyelinating leukodystrophy. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in salivary gland (RPKM 15.4), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (225840556..225882380, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (225033309..225070125, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (226033237..226070080, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spinal cord involvement and paroxysmal events in ""Infantile Onset Transient Hypomyelination"" due to TMEM63A mutation.
Title: Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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

Associated conditions

Description	Tests
Leukodystrophy, hypomyelinating, 19, transient infantile MedGen: C5231463 OMIM: 618688 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transmembrane protein 63A (TMEM63A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1937E (e-PCR)
- UniSTS:151298

MARC_17431-17432:1022875841:6 (e-PCR)
- UniSTS:268295

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:483984

D1S3504 (e-PCR)
- UniSTS:76963

GDB:335751 (e-PCR)
- UniSTS:156601

STS-R42498 (e-PCR)
- UniSTS:48585

SHGC-76439 (e-PCR)
- UniSTS:31185

RH80101 (e-PCR)
- UniSTS:83953

STS-X07936 (e-PCR)
- UniSTS:23545

Homology

Homologs of the TMEM63A gene: The TMEM63A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 314 organisms have orthologs with human gene TMEM63A
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables mechanosensitive ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables mechanosensitive ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables osmolarity-sensing cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cation transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: CSC1-like protein 1

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_014698.3 → NP_055513.2 CSC1-like protein 1

See identical proteins and their annotated locations for NP_055513.2

Status: VALIDATED

Source sequence(s)

AB018335, AL117348, AL591895, BF512395, DA127076

Consensus CDS

CCDS31042.1

UniProtKB/Swiss-Prot

O94886, Q8N2U2

UniProtKB/TrEMBL

A0A024R3T3, A1NY77

Related

ENSP00000355800.3, ENST00000366835.8

Conserved Domains (3) summary

pfam02714
Location:439 → 692

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 207

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:228 → 410

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

225840556..225882380 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544330.4 → XP_011542632.1 CSC1-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011542632.1

UniProtKB/Swiss-Prot

O94886, Q8N2U2

UniProtKB/TrEMBL

A0A024R3T3, A1NY77

Conserved Domains (3) summary

pfam02714
Location:439 → 692

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate

pfam13967
Location:52 → 207

RSN1_TM; Late exocytosis, associated with Golgi transport

pfam14703
Location:228 → 410

PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
XM_047435144.1 → XP_047291100.1 CSC1-like protein 1 isoform X2
XM_047435146.1 → XP_047291102.1 CSC1-like protein 1 isoform X4
XM_047435145.1 → XP_047291101.1 CSC1-like protein 1 isoform X3
XM_047435148.1 → XP_047291104.1 CSC1-like protein 1 isoform X5