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

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: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (75131469..75176612, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (69340853..69385990, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (75598172..75643315, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10.
Title: The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10.
The AD-associated protein TMED10 negatively regulates autophagy by inhibiting ATG4B activity.
Title: Down-regulated TMED10 in Alzheimer disease induces autophagy via ATG4B activation.
Study validated EXT1, TM9SF2, and TMED10 as important host factors for vaccinia virus infection. In addition, TMED10 was found to be crucial for virus-induced plasma membrane blebbing and phosphatidylserine-induced micropinocytosis.
Title: A Genome-Wide Haploid Genetic Screen Identifies Heparan Sulfate-Associated Genes and the Macropinocytosis Modulator TMED10 as Factors Supporting Vaccinia Virus Infection.
Results indicate that transmembrane trafficking protein Tmp21(TMP21) could regulate autophagy by modulating reactive oxygen species (ROS) production and TOR serine-threonine kinases (mTOR) activation.
Title: TMP21 regulates autophagy by modulating ROS production and mTOR activation.
TMP21 is genetically associated with Alzheimer's disease, with the novel Tmp21 SNP as a risk factor for Alzheimer's pathogenesis.
Title: A Novel Alzheimer-Associated SNP in Tmp21 Increases Amyloidogenesis.
Low TMED10 expression is associated with breast cancer.
Title: TMED10 Protein Interferes with Transforming Growth Factor (TGF)-β Signaling by Disrupting TGF-β Receptor Complex Formation.
Surface plasmon resonance and solution NMR analyses revealed that p24beta1 and p24delta1 GOLD domains interact weakly (Kd= ~10(-4)M).
Title: 3D Structure and Interaction of p24β and p24δ Golgi Dynamics Domains: Implication for p24 Complex Formation and Cargo Transport.
TMP21 modulates cell growth in papillary thyroid cancer cells by inducing autophagy, which may be associated with activation of AMPK/mTOR pathway.
Title: TMP21 modulates cell growth in papillary thyroid cancer cells by inducing autophagy through activation of the AMPK/mTOR pathway.
Study demonstrates that NleF binds to the human Tmp21 protein and subsequently disrupts intracellular protein trafficking.
Title: The enterohemorrhagic Escherichia coli effector protein NleF binds mammalian Tmp21.
This study suggested that The role ofTMP21 in the modulation of gamma-secretase activity and protein trafficking and related to alzheimer disease.
Title: The role of TMP21 in trafficking and amyloid-β precursor protein (APP) processing in Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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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

G35874 (e-PCR)
- UniSTS:31261

A002E08 (e-PCR)
- UniSTS:79427

RH44072 (e-PCR)
- UniSTS:92739

D10S16 (e-PCR)
- UniSTS:155756

SGC31604 (e-PCR)
- UniSTS:2944

RH66374 (e-PCR)
- UniSTS:29127

A002P02 (e-PCR)
- UniSTS:39635

RH45000 (e-PCR)
- UniSTS:66037

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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

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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)

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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.