U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 55754, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:16667
    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
    Summary
    Enables aminophospholipid flippase activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]
    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
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (75252924..75284792, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (76429754..76461614, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 24756 Neighboring gene small nucleolar RNA, C/D box 156 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:75918738-75918943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24758 Neighboring gene cytochrome c oxidase subunit 7A2 Neighboring gene uncharacterized LOC124901344 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:75981645-75982844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:75994172-75994744 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

    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 
    enables structural molecule activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of phospholipid-translocating ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of phospholipid-translocating ATPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of phospholipid-translocating ATPase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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/TrEMBL
      A0A669KBF5
      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
      A8K9V8, E1P539, Q658Z3, Q96H09, Q9NSL9, Q9NV96
      UniProtKB/TrEMBL
      B4DIF5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      76429754..76461614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)