TMED1

gene
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Also known as ST2LMGC1270IL1RL1LGIl1rl1lp24gamma1p24g1

Summary

TMED1 (transmembrane p24 trafficking protein 1, HGNC:17291) is a protein-coding gene on chromosome 19p13.2, encoding Transmembrane emp24 domain-containing protein 1 (Q13445). Potential role in vesicular protein trafficking, mainly in the early secretory pathway.

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.

Source: NCBI Gene 11018 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 49 total
  • MANE Select transcript: NM_006858

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:17291
Approved symbolTMED1
Nametransmembrane p24 trafficking protein 1
Location19p13.2
Locus typegene with protein product
StatusApproved
AliasesST2L, MGC1270, IL1RL1LG, Il1rl1l, p24gamma1, p24g1
Ensembl geneENSG00000099203
Ensembl biotypeprotein_coding
OMIM605395
Entrez11018

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay

ENST00000214869, ENST00000586835, ENST00000588259, ENST00000588289, ENST00000589638, ENST00000591157, ENST00000591695, ENST00000941053

RefSeq mRNA: 1 — MANE Select: NM_006858 NM_006858

CCDS: CCDS12249

Canonical transcript exons

ENST00000214869 — 4 exons

ExonStartEnd
ENSE000008882601083206710833213
ENSE000028876571083600910836212
ENSE000034623371083525610835353
ENSE000034759591083493410835117

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 94.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7500 / max 85.2862, expressed in 1801 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1791767.69781739
1791775.05221712

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225594.97gold quality
apex of heartUBERON:000209893.74gold quality
hindlimb stylopod muscleUBERON:000425292.57gold quality
gastrocnemiusUBERON:000138892.55gold quality
muscle of legUBERON:000138392.07gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.20gold quality
adenohypophysisUBERON:000219691.11gold quality
right lobe of liverUBERON:000111491.02gold quality
right uterine tubeUBERON:000130290.68gold quality
left ovaryUBERON:000211990.33gold quality
pituitary glandUBERON:000000790.30gold quality
heart left ventricleUBERON:000208490.30gold quality
muscle organUBERON:000163090.27gold quality
cardiac ventricleUBERON:000208290.04gold quality
metanephros cortexUBERON:001053390.01gold quality
right adrenal glandUBERON:000123389.99gold quality
right ovaryUBERON:000211889.99gold quality
endocervixUBERON:000045889.82gold quality
right adrenal gland cortexUBERON:003582789.80gold quality
adult mammalian kidneyUBERON:000008289.69gold quality
left adrenal glandUBERON:000123489.66gold quality
periodontal ligamentUBERON:000826689.24gold quality
left adrenal gland cortexUBERON:003582589.20gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.95gold quality
adrenal cortexUBERON:000123588.92gold quality
granulocyteCL:000009488.88gold quality
right lobe of thyroid glandUBERON:000111988.86gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451188.82gold quality
body of pancreasUBERON:000115088.81gold quality
heartUBERON:000094888.77gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes6.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting TMED1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4283100.0066.422097
HSA-MIR-391099.9571.132227
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-221-5P99.8665.451052
HSA-MIR-807399.8665.211118
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-431999.7669.832586
HSA-MIR-149-3P99.7268.223963
HSA-MIR-371499.7170.742671
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-715099.6266.801322
HSA-MIR-806499.4566.92875
HSA-MIR-4762-3P99.4369.722363
HSA-MIR-125A-5P99.3670.591640
HSA-MIR-125B-5P99.3670.361662
HSA-MIR-128-1-5P99.3360.46332
HSA-MIR-5582-5P99.2771.421879
HSA-MIR-807099.0769.301303
HSA-MIR-4695-5P99.0664.871151
HSA-MIR-3619-5P99.0068.872308
HSA-MIR-214-3P98.7168.122128
HSA-MIR-76198.7168.072051
HSA-MIR-1227-5P98.6565.321549
HSA-MIR-1212598.5967.541044

Literature-anchored findings (GeneRIF, showing 3)

  • 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. (PMID:11466339)
  • The GOLD domain-containing protein TMED1 is involved in interleukin-33 signaling (PMID:23319592)
  • Structural and thermodynamic analyses of human TMED1 (p24gamma1) Golgi dynamics. (PMID:34634369)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriotmed1bENSDARG00000017255
danio_reriotmed1aENSDARG00000031325
mus_musculusTmed1ENSMUSG00000032180
rattus_norvegicusTmed1ENSRNOG00000008037
drosophila_melanogasterp24-1FBGN0030341
caenorhabditis_elegansWBGENE00011606

Paralogs (8): TMED2 (ENSG00000086598), TMED5 (ENSG00000117500), TMED7 (ENSG00000134970), TMED6 (ENSG00000157315), TMED4 (ENSG00000158604), TMED3 (ENSG00000166557), TMED10 (ENSG00000170348), TMED9 (ENSG00000184840)

Protein

Protein identifiers

Transmembrane emp24 domain-containing protein 1Q13445 (reviewed: Q13445)

Alternative names: Interleukin-1 receptor-like 1 ligand, Putative T1/ST2 receptor-binding protein, p24 family protein gamma-1

All UniProt accessions (7): Q13445, K7EIN4, K7EIR1, K7EQ63, K7ER03, K7ERK5, K7ES06

UniProt curated annotations — full annotation on UniProt →

Function. Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side. Plays a positive role in IL-33-mediated IL-8 and IL-6 production by interacting with interleukin-33 receptor IL1RL1. Also plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26.

Subunit / interactions. Homodimer in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. Interacts with IL1RL1. Interacts with RNF26; this interaction is important to modulate innate immune signaling through the cGAS-STING pathway.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Tissue specificity. Widely expressed.

Miscellaneous. Found only in very low concentrations in the endoplasmic reticulum, Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment compared to other members of the EMP24/GP25L family.

Similarity. Belongs to the EMP24/GP25L family.

RefSeq proteins (1): NP_006849* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR009038GOLD_domDomain
IPR015720Emp24-likeFamily
IPR036598GOLD_dom_sfHomologous_superfamily

Pfam: PF01105

UniProt features (19 total): strand 7, mutagenesis site 2, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7RRMX-RAY DIFFRACTION1.72

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q13445-F183.680.54

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (2):

PositionPhenotype
45significant loss of interaction with il1rl1.
106significant loss of interaction with il1rl1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, AREB6_01, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_70, GOBP_CELL_CELL_SIGNALING, GTGCCTT_MIR506, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOMF_SIGNALING_RECEPTOR_BINDING, TGCCTTA_MIR124A, GOBP_GOLGI_ORGANIZATION

GO Biological Process (8): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), innate immune response (GO:0045087), immune system process (GO:0002376), protein transport (GO:0015031)

GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (8): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm4
intracellular membrane-bounded organelle3
intracellular protein localization2
intracellular transport2
cell communication2
signaling2
endomembrane system2
protein transport1
intercellular transport1
Golgi vesicle transport1
organelle organization1
endomembrane system organization1
cellular process1
regulation of cellular process1
cellular response to stimulus1
immune response1
defense response to symbiont1
biological_process1
transport1
establishment of protein localization1
protein binding1
binding1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
membrane1
cell periphery1
coated vesicle1
endoplasmic reticulum-Golgi intermediate compartment1
bounding membrane of organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

582 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMED1IL1RL1Q01638814
TMED1TMED9Q9BVK6678
TMED1TMED10P49755631
TMED1TMED4Q7Z7H5622
TMED1ENDOD1O94919550
TMED1TMEM33P57088529
TMED1C3orf18Q9UK00497
TMED1IL1RNP18510493
TMED1FAM8A1Q9UBU6490
TMED1E9PSI1E9PSI1479
TMED1GFRALQ6UXV0461
TMED1APPP05067459
TMED1PRSS57Q6UWY2455
TMED1RNF26Q9BY78451
TMED1DENND1AQ8TEH3445

IntAct

93 interactions, top by confidence:

ABTypeScore
CDK5RAP3UFL1psi-mi:“MI:0914”(association)0.870
SGF29NDC80psi-mi:“MI:0914”(association)0.840
EXOC1EXOC5psi-mi:“MI:0914”(association)0.730
TMED10TMED1psi-mi:“MI:0914”(association)0.730
TMED9TMED10psi-mi:“MI:0914”(association)0.730
DDRGK1UFL1psi-mi:“MI:0914”(association)0.710
TMED2ATP9Apsi-mi:“MI:0914”(association)0.640
RAF1CALUpsi-mi:“MI:0914”(association)0.640
CHST8CANXpsi-mi:“MI:0914”(association)0.640
FGF3GTPBP10psi-mi:“MI:0914”(association)0.530
SPPL2BUQCRQpsi-mi:“MI:0914”(association)0.530
JPH4ZSWIM8psi-mi:“MI:0914”(association)0.530
CD226MEN1psi-mi:“MI:0914”(association)0.530
CDK5RAP3PLD2psi-mi:“MI:0914”(association)0.530
CREB3MYO9Apsi-mi:“MI:0914”(association)0.530
EXOC3TMED1psi-mi:“MI:0914”(association)0.510
JUNNKRFpsi-mi:“MI:0914”(association)0.460
TMED1TMED1psi-mi:“MI:0915”(physical association)0.400
GPC1SNAP23psi-mi:“MI:0915”(physical association)0.400
GPC1GANABpsi-mi:“MI:0915”(physical association)0.400
TMED1F2RL1psi-mi:“MI:0915”(physical association)0.370
TMED1GPR37psi-mi:“MI:0915”(physical association)0.370
TMED1LTB4R2psi-mi:“MI:0915”(physical association)0.370
SMAD3TMED1psi-mi:“MI:0915”(physical association)0.370
Tmed10TARS3psi-mi:“MI:0914”(association)0.350
Tmed10NDUFS8psi-mi:“MI:0914”(association)0.350

BioGRID (103): TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS), TMED1 (Affinity Capture-MS)

ESM2 similar proteins: A5PK45, A6NDV4, B1AWJ5, O14908, O18735, O60568, O70422, O97583, P04626, P06494, P52849, P52850, P60027, P70424, Q0GA42, Q13445, Q1WIM1, Q28BQ6, Q2KJ84, Q2TBK5, Q3V009, Q5BK85, Q5R6K5, Q5R7E6, Q5R809, Q5U367, Q5ZIW1, Q60553, Q6AXN3, Q6AY25, Q6IEE7, Q78IS1, Q7Z4H8, Q812F8, Q8BRK9, Q8K297, Q8NBJ5, Q8NFZ8, Q8R464, Q92759

Diamond homologs: A7SXK3, D3ZTX0, O13770, O17528, P49020, Q13445, Q15363, Q28BQ6, Q2KJ84, Q2TBK5, Q3T133, Q3V009, Q54BN0, Q5BK85, Q5I0E7, Q5R7E6, Q5R809, Q63524, Q6AXN3, Q6AY25, Q769F9, Q78IS1, Q7Z7H5, Q99KF1, Q9BVK6, Q9CXE7, Q9R0Q3, Q9Y3A6, Q9Y3B3, Q9Y3Q3, P39704, Q12450

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
response to endoplasmic reticulum stress711.0×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

49 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance37
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

550 predictions. Top by Δscore:

VariantEffectΔscore
19:10833209:GACTC:Gacceptor_gain1.0000
19:10833210:ACTC:Aacceptor_gain1.0000
19:10833211:CTC:Cacceptor_gain1.0000
19:10833211:CTCC:Cacceptor_gain1.0000
19:10833212:TC:Tacceptor_gain1.0000
19:10833212:TCCT:Tacceptor_gain1.0000
19:10833213:CC:Cacceptor_gain1.0000
19:10833213:CCTAC:Cacceptor_loss1.0000
19:10833214:C:CCacceptor_gain1.0000
19:10833215:T:Gacceptor_loss1.0000
19:10833222:C:CTacceptor_gain1.0000
19:10833223:A:Tacceptor_gain1.0000
19:10834929:CACA:Cdonor_loss1.0000
19:10834930:ACACC:Adonor_loss1.0000
19:10834931:CACC:Cdonor_loss1.0000
19:10834932:A:ACdonor_gain1.0000
19:10834933:C:CAdonor_gain1.0000
19:10834933:C:CCdonor_gain1.0000
19:10834933:C:CTdonor_loss1.0000
19:10834944:T:TAdonor_gain1.0000
19:10834956:T:TAdonor_gain1.0000
19:10835113:CCACC:Cacceptor_gain1.0000
19:10835114:CACC:Cacceptor_gain1.0000
19:10835114:CACCC:Cacceptor_gain1.0000
19:10835116:CC:Cacceptor_gain1.0000
19:10835117:CC:Cacceptor_gain1.0000
19:10835118:C:CCacceptor_gain1.0000
19:10835118:C:Tacceptor_gain1.0000
19:10835123:C:CTacceptor_gain1.0000
19:10835250:A:Cdonor_gain1.0000

AlphaMissense

1478 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:10835072:G:CN109K1.000
19:10835072:G:TN109K1.000
19:10833131:C:GR183P0.999
19:10835079:A:GF107S0.999
19:10835039:G:CF120L0.998
19:10835039:G:TF120L0.998
19:10835041:A:GF120L0.998
19:10833141:C:GA180P0.997
19:10835043:A:TV119E0.997
19:10835063:G:CS112R0.997
19:10835063:G:TS112R0.997
19:10835065:T:GS112R0.997
19:10835066:G:CF111L0.997
19:10835066:G:TF111L0.997
19:10835068:A:GF111L0.997
19:10835073:T:AN109I0.997
19:10835079:A:CF107C0.997
19:10835082:C:GC106S0.997
19:10835083:A:GC106R0.997
19:10835083:A:TC106S0.997
19:10835316:A:GL74P0.997
19:10835322:A:GF72S0.997
19:10836013:T:CY60C0.997
19:10833137:C:GR181P0.996
19:10833175:G:CS168R0.996
19:10833175:G:TS168R0.996
19:10833177:T:GS168R0.996
19:10835064:C:AS112I0.996
19:10835092:A:CY103D0.996
19:10835098:C:AG101W0.996

dbSNP variants (sampled 300 via entrez): RS1000966057 (19:10837700 G>A,T), RS1002826531 (19:10835317 G>A,C), RS1002865126 (19:10832381 C>A,T), RS1002929105 (19:10832197 C>G,T), RS1003688947 (19:10836543 G>A,T), RS1003920864 (19:10833218 A>G), RS1004411238 (19:10834639 C>A,T), RS1006130665 (19:10837166 A>G), RS1006209341 (19:10834836 G>A,T), RS1006264656 (19:10834614 G>A,C), RS1006342777 (19:10832208 C>T), RS1006887596 (19:10836996 A>C,T), RS1006938468 (19:10836777 C>A,T), RS1007247015 (19:10831653 C>T), RS1008445844 (19:10831894 G>A)

Disease associations

OMIM: gene MIM:605395 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases expression3
Cadmium Chloridedecreases reaction, increases abundance, increases palmitoylation, decreases expression2
triphenyl phosphateaffects expression1
propionaldehydedecreases expression1
sodium arsenitedecreases expression1
2-bromopalmitatedecreases reaction, increases abundance, increases palmitoylation1
ICG 001increases expression1
bisphenol Bincreases expression1
abrineincreases expression1
bisphenol Sincreases expression1
bisphenol AFincreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Vorinostatdecreases expression1
Cadmiumdecreases reaction, increases abundance, increases palmitoylation1
Cytarabinedecreases expression1
Ivermectindecreases expression1
Smokedecreases expression1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_C7YTHAP1 TMED1 (-) 1Cancer cell lineMale
CVCL_C7YUHAP1 TMED1 (-) 2Cancer cell lineMale
CVCL_C7YVHAP1 TMED1 (-) 3Cancer cell lineMale
CVCL_C7YWHAP1 TMED1 (-) 4Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.