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

Gene ID: 9725, updated on 27-Jun-2020

Summary

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Official Symbol
TMEM63Aprovided by HGNC
Official Full Name
transmembrane protein 63Aprovided by HGNC
Primary source
HGNC:HGNC:29118
See related
Ensembl:ENSG00000196187 MIM:618685
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
Expression
Ubiquitous expression in salivary gland (RPKM 15.4), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See TMEM63A in Genome Data Viewer
Location:
1q42.12
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (225840556..225882720, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226033233..226070420, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene signal recognition particle 9 Neighboring gene left-right determination factor 2 pseudogene Neighboring gene epoxide hydrolase 1 Neighboring gene left-right determination factor 1 Neighboring gene microRNA 6741 Neighboring gene pyrroline-5-carboxylate reductase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The N- and C-terminal carbohydrate recognition domains of Haemonchus contortus galectin bind to distinct receptors of goat PBMC and contribute differently to its immunomodulatory functions in host-parasite interactions. Lu M, et al. Parasit Vectors, 2017 Sep 5. PMID 28870237, Free PMC Article
  2. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. Yan H, et al. Am J Hum Genet, 2019 Nov 7. PMID 31587869, Free PMC Article
  3. The proteome of lysosomes. Schröder BA, et al. Proteomics, 2010 Nov. PMID 20957757
  4. OSCA/TMEM63 are an Evolutionarily Conserved Family of Mechanically Activated Ion Channels. Murthy SE, et al. Elife, 2018 Nov 1. PMID 30382938, Free PMC Article
  5. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. Seki N, et al. DNA Res, 1997 Oct 31. PMID 9455484

See all (21) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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

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)

Genotypes

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

Homology

Clone Names

  • KIAA0489

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mechanosensitive ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
mechanosensitive ion channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
osmolarity-sensing cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
neutrophil degranulation TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
  
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
plasma membrane TAS
Traceable Author Statement
more info
  
specific granule membrane TAS
Traceable Author Statement
more info
  
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)

  1. 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
    UniProtKB/TrEMBL
    A0A024R3T3
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    225840556..225882720 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544330.3 → XP_011542632.1  CSC1-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011542632.1

    UniProtKB/Swiss-Prot
    O94886
    UniProtKB/TrEMBL
    A0A024R3T3
    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

  2. XM_011544331.3 → XP_011542633.1  CSC1-like protein 1 isoform X2

    Conserved Domains (3) summary
    pfam02714
    Location:350 → 663
    RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
    pfam13967
    Location:52 → 208
    RSN1_TM; Late exocytosis, associated with Golgi transport
    pfam14703
    Location:262 → 331
    PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

  3. XM_011544332.3 → XP_011542634.1  CSC1-like protein 1 isoform X3

    Conserved Domains (2) summary
    pfam02714
    Location:203 → 545
    RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
    pfam14703
    Location:115 → 184
    PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

  4. XM_006711841.4 → XP_006711904.1  CSC1-like protein 1 isoform X4

    Conserved Domains (2) summary
    pfam02714
    Location:173 → 515
    RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate
    pfam14703
    Location:85 → 154
    PHM7_cyt; Cytosolic domain of 10TM putative phosphate transporter

  5. XM_011544329.3 → XP_011542631.1  CSC1-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011542631.1

    UniProtKB/Swiss-Prot
    O94886
    UniProtKB/TrEMBL
    A0A024R3T3
    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

  6. XM_011544328.3 → XP_011542630.1  CSC1-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011542630.1

    UniProtKB/Swiss-Prot
    O94886
    UniProtKB/TrEMBL
    A0A024R3T3
    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

RNA

  1. XR_949163.3 RNA Sequence

  2. XR_001737552.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94886.3 GenPept UniProtKB/Swiss-Prot:O94886

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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