TMED3 transmembrane p24 trafficking protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMED3provided by HGNC
Official Full Name: transmembrane p24 trafficking protein 3provided by HGNC
Primary source: HGNC:HGNC:28889
See related: Ensembl:ENSG00000166557 MIM:620437; AllianceGenome:HGNC:28889
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: p26; P24B; p24g4; C15orf22; p24gamma4
Summary: Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in salivary gland (RPKM 12.9), thyroid (RPKM 6.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (79311112..79413886)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (77174633..77277227)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (79603454..79706228)

Chromosome 15 - NC_000015.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMED3 stabilizes SMAD2 by counteracting NEDD4-mediated ubiquitination to promote ovarian cancer.
Title: TMED3 stabilizes SMAD2 by counteracting NEDD4-mediated ubiquitination to promote ovarian cancer.
Analysis and Validation of TMED3 correlates with poor prognosis and tumor immune infiltration of glioma.
Title: Analysis and Validation of TMED3 correlates with poor prognosis and tumor immune infiltration of glioma.
Trafficking protein TMED3 promotes esophageal squamous cell carcinoma.
Title: Trafficking protein TMED3 promotes esophageal squamous cell carcinoma.
TMED3 promotes the progression and development of lung squamous cell carcinoma by regulating EZR.
Title: TMED3 promotes the progression and development of lung squamous cell carcinoma by regulating EZR.
TMED3 exerts a protumor function in non-small cell lung cancer by enhancing the Wnt/beta-catenin pathway via regulation of AKT.
Title: TMED3 exerts a protumor function in non-small cell lung cancer by enhancing the Wnt/β-catenin pathway via regulation of AKT.
Knockdown of TMED3 inhibits cell viability and migration and increases apoptosis in human chordoma cells.
Title: Knockdown of TMED3 inhibits cell viability and migration and increases apoptosis in human chordoma cells.
Study demonstrates that transmembrane p24 trafficking protein 3 (TMED3) promotes hepatocellular carcinoma (HCC) metastasis and is a potential prognostic biomarker in hepatocellular carcinoma. Study propose that TMED3 promotes HCC metastasis through IL-11/STAT3 signaling.
Title: TMED3 promotes hepatocellular carcinoma progression via IL-11/STAT3 signaling.
This genome-wide screen has identified two novel metastatic suppressors: TMED3 and SOX12, the knockdown of which increases metastatic growth after direct seeding.
Title: A novel genome-wide in vivo screen for metastatic suppressors in human colon cancer identifies the positive WNT-TCF pathway modulators TMED3 and SOX12.
AIM1, ERGIC1, and TPX2 were shown to be highly expressed especially in prostate cancer tissues, and high mRNA expression of ERGIC1 and TMED3 associated with AR and ERG oncogene expression
Title: High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH1638 (e-PCR)
- UniSTS:49152

RH48894 (e-PCR)
- UniSTS:90454

A004H32 (e-PCR)
- UniSTS:39797

WI-15355 (e-PCR)
- UniSTS:34680

RH78006 (e-PCR)
- UniSTS:48339

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cargo receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
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
part_of COPI vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
part_of COPI vesicle coat	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
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 cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement 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
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transmembrane emp24 domain-containing protein 3

Names: integral type I protein; membrane protein p24B; p24 family protein gamma-4; testis tissue sperm-binding protein Li 48e; transmembrane emp24 protein transport domain containing 3

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)

NM_001301203.3 → NP_001288132.1 transmembrane emp24 domain-containing protein 3 isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC011797, AC027811, KF459564

Consensus CDS

CCDS73768.1

UniProtKB/TrEMBL

B4E277, F5H4M7

Related

ENSP00000446062.1, ENST00000536821.5

Conserved Domains (1) summary

pfam01105
Location:28 → 123

EMP24_GP25L; emp24/gp25L/p24 family/GOLD
NM_001330376.2 → NP_001317305.1 transmembrane emp24 domain-containing protein 3 isoform c precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a

Source sequence(s)

AC011797, AC027811, KF459564

Consensus CDS

CCDS81914.1

UniProtKB/TrEMBL

Q8N2D9

Related

ENSP00000414983.2, ENST00000424155.6
NM_001363735.2 → NP_001350664.1 transmembrane emp24 domain-containing protein 3 isoform d precursor

Status: VALIDATED

Source sequence(s)

AC011797, KF459564

Consensus CDS

CCDS86480.1

UniProtKB/TrEMBL

G3V1J9, Q8N2D9

Related

ENSP00000440228.1, ENST00000543455.1

Conserved Domains (1) summary

pfam01105
Location:28 → 130

EMP24_GP25L; emp24/gp25L/p24 family/GOLD
NM_007364.4 → NP_031390.1 transmembrane emp24 domain-containing protein 3 isoform a precursor

See identical proteins and their annotated locations for NP_031390.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC011797, AC027811, KF459564

Consensus CDS

CCDS10310.1

UniProtKB/Swiss-Prot

A8K069, B4DN05, Q2T9F8, Q9Y3Q3

UniProtKB/TrEMBL

A0A140VKD1, Q53HR4

Related

ENSP00000299705.5, ENST00000299705.10

Conserved Domains (1) summary

pfam01105
Location:28 → 205

EMP24_GP25L; emp24/gp25L/p24 family/GOLD

RNA

NR_125394.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011797, AC027811, KF459564