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TMEM30A transmembrane protein 30A [ Homo sapiens (human) ]

Gene ID: 55754, updated on 13-Mar-2020

Summary

Official Symbol
TMEM30Aprovided by HGNC
Official Full Name
transmembrane protein 30Aprovided by HGNC
Primary source
HGNC:HGNC:16667
See related
Ensembl:ENSG00000112697 MIM:611028
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
CDC50A; C6orf67
Expression
Ubiquitous expression in brain (RPKM 71.6), lung (RPKM 58.3) and 25 other tissues See more
Orthologs

Genomic context

See TMEM30A in Genome Data Viewer
Location:
6q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (75252924..75284792, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (75962638..75994632, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene collagen type XII alpha 1 chain Neighboring gene small nucleolar RNA, C/D box 156 Neighboring gene cytochrome c oxidase subunit 7A2 Neighboring gene TMEM30A divergent transcript Neighboring gene filamin A interacting protein 1 Neighboring gene high mobility group box 1 pseudogene 39

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10856

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminophospholipid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aminophospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
drug transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein exit from endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
azurophil granule membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cell cycle control protein 50A
Names
P4-ATPase flippase complex beta subunit TMEM30A

NCBI Reference Sequences (RefSeq)

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_001143958.2NP_001137430.1  cell cycle control protein 50A isoform 2

    See identical proteins and their annotated locations for NP_001137430.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AA599967, AK292823, AL080250, AL832490, DB239737
    Consensus CDS
    CCDS47453.1
    UniProtKB/Swiss-Prot
    Q9NV96
    Related
    ENSP00000431007.1, ENST00000475111.6
    Conserved Domains (1) summary
    pfam03381
    Location:77313
    CDC50; LEM3 (ligand-effect modulator 3) family / CDC50 family
  2. NM_018247.4NP_060717.1  cell cycle control protein 50A isoform 1

    See identical proteins and their annotated locations for NP_060717.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA599967, AJ420517, AK001718, AL080250, DB239737
    Consensus CDS
    CCDS4983.1
    UniProtKB/Swiss-Prot
    Q9NV96
    Related
    ENSP00000230461.6, ENST00000230461.11
    Conserved Domains (1) summary
    pfam03381
    Location:70349
    CDC50; LEM3 (ligand-effect modulator 3) family / CDC50 family

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    75252924..75284792 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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