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    TMED10 transmembrane p24 trafficking protein 10 [ Homo sapiens (human) ]

    Gene ID: 10972, updated on 9-Jun-2024

    Summary

    Official Symbol
    TMED10provided by HGNC
    Official Full Name
    transmembrane p24 trafficking protein 10provided by HGNC
    Primary source
    HGNC:HGNC:16998
    See related
    Ensembl:ENSG00000170348 MIM:605406; AllianceGenome:HGNC:16998
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p23; TMP21; p24d1; S31I125; Tmp-21-I; S31III125; P24(DELTA)
    Summary
    This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 111.9), endometrium (RPKM 61.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TMED10 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75131469..75176612, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69340853..69385990, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75598172..75643315, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75535987-75536538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75536539-75537090 Neighboring gene zinc finger C2HC-type containing 1C Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75565767-75565964 Neighboring gene NIMA related kinase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8737 Neighboring gene HIF1AP pseudogene 1 Neighboring gene Sharpr-MPRA regulatory regions 714 and 744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75619067-75619731 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75643139-75643711 Neighboring gene RNA, U4atac small nuclear 14, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75687528-75688425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75688426-75689322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75689323-75690220 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1538 Neighboring gene VISTA enhancer hs1657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:75720649-75721848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75723647-75724146 Neighboring gene VISTA enhancer hs1481 Neighboring gene uncharacterized LOC124903434

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TMED10; predicted interaction to be within the endoplasmic reticulum to Golgi transport PubMed
    Rev rev HIV-1 Rev is identified to have a physical interaction with transmembrane emp24-like trafficking protein 10 (TMED10) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Tat tat Expression of HIV-1 Tat downregulates the abundance of transmembrane emp24-like trafficking protein 10 (TMED10) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in COPI coating of Golgi vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in COPI-coated vesicle budding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in COPII vesicle coating TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytosol to ERGIC protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to ERGIC IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulated exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle cargo loading TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in vesicle targeting, to, from or within Golgi ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in COPI-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in COPI-coated vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in cis-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in endoplasmic reticulum-Golgi intermediate compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    part_of gamma-secretase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in secretory granule membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in trans-Golgi network transport vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
     
    located_in zymogen granule membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transmembrane emp24 domain-containing protein 10
    Names
    21 kDa transmembrane trafficking protein
    p24 family protein delta-1
    p24delta
    p24delta1
    testicular tissue protein Li 206
    transmembrane emp24-like trafficking protein 10
    transmembrane protein Tmp21

    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_006827.6NP_006818.3  transmembrane emp24 domain-containing protein 10 precursor

      See identical proteins and their annotated locations for NP_006818.3

      Status: REVIEWED

      Source sequence(s)
      AK056156, AL832012, BG675810, BX248754, BX504393, CN420777, DB528262, X97442
      Consensus CDS
      CCDS9840.1
      UniProtKB/Swiss-Prot
      B2R605, P49755, Q15602, Q16536, Q86TC2, Q86TS5
      UniProtKB/TrEMBL
      A0A024R6I3, Q53GF9
      Related
      ENSP00000303145.4, ENST00000303575.9
      Conserved Domains (1) summary
      pfam01105
      Location:31213
      EMP24_GP25L; emp24/gp25L/p24 family/GOLD

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      75131469..75176612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69340853..69385990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)