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    TMED5 transmembrane p24 trafficking protein 5 [ Homo sapiens (human) ]

    Gene ID: 50999, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMED5provided by HGNC
    Official Full Name
    transmembrane p24 trafficking protein 5provided by HGNC
    Primary source
    HGNC:HGNC:24251
    See related
    Ensembl:ENSG00000117500 MIM:616876; AllianceGenome:HGNC:24251
    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
    p28; p24g2; CGI-100
    Summary
    Involved in Golgi ribbon formation. Located in cis-Golgi network; endoplasmic reticulum exit site; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 22.0), thyroid (RPKM 21.2) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93149742..93180413, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92995327..93026003, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93615299..93645970, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1325 Neighboring gene Sharpr-MPRA regulatory region 13810 Neighboring gene metal response element binding transcription factor 2 Neighboring gene Sharpr-MPRA regulatory region 11191 Neighboring gene MPRA-validated peak321 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1328 Neighboring gene coiled-coil domain containing 18 Neighboring gene ribosomal protein L36a pseudogene 11 Neighboring gene uncharacterized LOC107985521

    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. Silencing of TMED5 inhibits proliferation, migration and invasion, and enhances apoptosis of hepatocellular carcinoma cells. Cheng X, et al. Adv Clin Exp Med, 2023 Jun. PMID 36530030
    2. The α-helical region in p24γ2 subunit of p24 protein cargo receptor is pivotal for the recognition and transport of glycosylphosphatidylinositol-anchored proteins. Theiler R, et al. J Biol Chem, 2014 Jun 13. PMID 24778190, Free PMC Article
    3. [Effects of matrine on cgi-100 gene expression and proliferation in K562 cells]. Huang FX, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2008 Jun. PMID 18549622
    4. Identification of a novel circ_0018289/miR-183-5p/TMED5 regulatory network in cervical cancer development. Zou H, et al. World J Surg Oncol, 2021 Aug 17. PMID 34404391, Free PMC Article
    5. p28, a novel ERGIC/cis Golgi protein, required for Golgi ribbon formation. Koegler E, et al. Traffic, 2010 Jan. PMID 19948005

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing of TMED5 inhibits proliferation, migration and invasion, and enhances apoptosis of hepatocellular carcinoma cells.
      Title: Silencing of TMED5 inhibits proliferation, migration and invasion, and enhances apoptosis of hepatocellular carcinoma cells.
    2. Identification of a novel circ_0018289/miR-183-5p/TMED5 regulatory network in cervical cancer development.
      Title: Identification of a novel circ_0018289/miR-183-5p/TMED5 regulatory network in cervical cancer development.
    3. The luminal alpha-helical but not GOLD domain of p24gamma2 was required for efficient GPI-AP transport.
      Title: The α-helical region in p24γ2 subunit of p24 protein cargo receptor is pivotal for the recognition and transport of glycosylphosphatidylinositol-anchored proteins.
    4. Expression of cgi-100 mRNA decreased in a dose- and time-dependent manner in the K562 cells treated with matrine and over-expression of cgi-100 elevates the proliferation and the immaturity level of K562 cells.
      Title: [Effects of matrine on cgi-100 gene expression and proliferation in K562 cells].
    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp781B2248

    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 
    Process Evidence Code Pubs
    involved_in Golgi ribbon formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi ribbon formation 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 intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cis-Golgi network 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 exit site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane emp24 domain-containing protein 5
    Names
    p24 family protein gamma-2
    p24gamma2
    transmembrane emp24 protein transport domain containing 5

    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_001167830.2 → NP_001161302.1  transmembrane emp24 domain-containing protein 5 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC126124, AL117354, CA314982
      Consensus CDS
      CCDS53342.1
      UniProtKB/TrEMBL
      B1AKT3
      Related
      ENSP00000418992.1, ENST00000479918.5
      Conserved Domains (1) summary
      pfam01105
      Location:35 → 162
      EMP24_GP25L; emp24/gp25L/p24 family/GOLD

    2. NM_001410825.1 → NP_001397754.1  transmembrane emp24 domain-containing protein 5 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC126124, AL117354
      Consensus CDS
      CCDS91003.1
      UniProtKB/TrEMBL
      M0R072
      Related
      ENSP00000471060.1, ENST00000370290.7

    3. NM_016040.5 → NP_057124.3  transmembrane emp24 domain-containing protein 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_057124.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI436590, AL117354, BC070051, CA314982
      Consensus CDS
      CCDS743.1
      UniProtKB/Swiss-Prot
      B1AKT4, B2R703, D3DT38, Q96AX8, Q9Y3A6
      Related
      ENSP00000359305.3, ENST00000370282.8
      Conserved Domains (1) summary
      pfam01105
      Location:35 → 222
      EMP24_GP25L; emp24/gp25L/p24 family/GOLD

    RNA

    1. NR_030761.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC126124, AL117354, BX642274, CA314982

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      93149742..93180413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      92995327..93026003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3A6.1 GenPept UniProtKB/Swiss-Prot:Q9Y3A6

    Gene LinkOut

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

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