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

Gene ID: 9725, updated on 22-Sep-2022

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
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Genomic context

See TMEM63A in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene signal recognition particle 9 Neighboring gene left-right determination factor 3, pseudogene Neighboring gene epoxide hydrolase 1 Neighboring gene Sharpr-MPRA regulatory region 2218 Neighboring gene left-right determination factor 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0489

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 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lysosomal membrane HDA 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
 

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_014698.3NP_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:439692
    RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
    pfam13967
    Location:52207
    RSN1_TM; Late exocytosis, associated with Golgi transport
    pfam14703
    Location:228410
    PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    225840556..225882380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544330.4XP_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:439692
    RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
    pfam13967
    Location:52207
    RSN1_TM; Late exocytosis, associated with Golgi transport
    pfam14703
    Location:228410
    PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter
  2. XM_047435144.1XP_047291100.1  CSC1-like protein 1 isoform X2

  3. XM_047435146.1XP_047291102.1  CSC1-like protein 1 isoform X4

  4. XM_047435145.1XP_047291101.1  CSC1-like protein 1 isoform X3

  5. XM_047435148.1XP_047291104.1  CSC1-like protein 1 isoform X5

RNA

  1. XR_007065257.1 RNA Sequence

  2. XR_949163.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    225033309..225070125 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)