TMED1 transmembrane p24 trafficking protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMED1provided by HGNC
Official Full Name: transmembrane p24 trafficking protein 1provided by HGNC
Primary source: HGNC:HGNC:17291
See related: Ensembl:ENSG00000099203 MIM:605395; AllianceGenome:HGNC:17291
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: Tp24; p24g1; Il1rl1l; IL1RL1LG
Summary: This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in placenta (RPKM 10.9), kidney (RPKM 10.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10832067..10836212, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10959078..10963224, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10942743..10946888, complement)

Chromosome 19 - NC_000019.10 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: 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?

Structural and thermodynamic analyses of human TMED1 (p24gamma1) Golgi dynamics.
Title: Structural and thermodynamic analyses of human TMED1 (p24γ1) Golgi dynamics.
The GOLD domain-containing protein TMED1 is involved in interleukin-33 signaling
Title: The GOLD domain-containing protein TMED1 is involved in interleukin-33 signaling.
ST2L is stably and selectively expressed on human Th2, Tc2 and NK2 lymphocyte lines and can be used as a marker for determining shifts in immune status of human diseases such as HIV infection.
Title: Human IL-18 receptor and ST2L are stable and selective markers for the respective type 1 and type 2 circulating lymphocytes.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transmembrane emp24 protein transport domain containing 1 (TMED1) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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 Golgi apparatus	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	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
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane emp24 domain-containing protein 1

Names: IL1RL1-binding protein; interleukin 1 receptor-like 1 ligand; p24 family protein gamma-1; putative T1/ST2 receptor-binding protein; transmembrane emp24 protein transport domain containing 1

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_006858.4 → NP_006849.1 transmembrane emp24 domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_006849.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and is protein coding.

Source sequence(s)

AW389310, BC002443, BI793229, U41804

Consensus CDS

CCDS12249.1

UniProtKB/Swiss-Prot

Q13445

UniProtKB/TrEMBL

K7EQ63

Related

ENSP00000214869.1, ENST00000214869.7

Conserved Domains (1) summary

pfam01105
Location:33 → 220

EMP24_GP25L; emp24/gp25L/p24 family/GOLD

RNA

NR_104015.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the longest open reading frame is in a different frame compared to variant 1, and there is no support for the predicted protein encoded by this ORF.

Source sequence(s)

AW389310, BC002443, BI793229, HY012010

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

10832067..10836212 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722631.4 → XP_006722694.1 transmembrane emp24 domain-containing protein 1 isoform X1

Conserved Domains (1) summary

pfam01105
Location:22 → 182

EMP24_GP25L; emp24/gp25L/p24 family/GOLD