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

Gene ID: 50999, updated on 3-Nov-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
Predicted to enable cargo receptor activity. 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, Nov 2024]
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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See TMED5 in Genome Data Viewer
Location:
1p22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93149742..93180413, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92995327..93026003, complement)
RS_2024_09 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 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. p28, a novel ERGIC/cis Golgi protein, required for Golgi ribbon formation. Koegler E, et al. Traffic, 2010 Jan. PMID 19948005
  5. 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

See all (39) 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 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_2024_08

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

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