Format

Send to:

Choose Destination

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

Gene ID: 55754, updated on 22-Aug-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TMEM30A in Genome Data Viewer
Location:
6q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (75252924..75284792, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (75962640..75994508, 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
enables aminophospholipid flippase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
part_of phospholipid-translocating ATPase complex 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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 
located_in 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)

NEW Try the new Transcript table

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 109.20210514

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)
Support Center