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STMP1

gene
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Also known as PL-5283Mm47Mtlbn

Summary

STMP1 (short transmembrane mitochondrial protein 1, HGNC:41909) is a protein-coding gene on chromosome 7q33, encoding Short transmembrane mitochondrial protein 1 (E0CX11). Microprotein involved in mitochondrial respiratory chain complex III (ubiquinol-cytochrome c oxidoreductase) and complex IV (mitochondrial cytochrome c oxidase complex) assembly.

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respirasome assembly. Located in mitochondrion. Is active in mitochondrial inner membrane.

Source: NCBI Gene 647087 — RefSeq curated summary.

At a glance

  • GWAS associations: 14
  • Clinical variants (ClinVar): 4 total
  • MANE Select transcript: NM_001130929

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:41909
Approved symbolSTMP1
Nameshort transmembrane mitochondrial protein 1
Location7q33
Locus typegene with protein product
StatusApproved
AliasesPL-5283, Mm47, Mtlbn
Ensembl geneENSG00000243317
Ensembl biotypeprotein_coding
OMIM618755
Entrez647087

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000422968, ENST00000507606, ENST00000509448, ENST00000515197, ENST00000873095

RefSeq mRNA: 1 — MANE Select: NM_001130929 NM_001130929

CCDS: CCDS55168

Canonical transcript exons

ENST00000507606 — 3 exons

ExonStartEnd
ENSE00002025535135674091135676416
ENSE00002086392135662514135662594
ENSE00003757431135672753135672806

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 92.8466 / max 1343.8345, expressed in 1827 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
8135392.84661827

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001998.45gold quality
pancreatic ductal cellCL:000207998.45gold quality
upper arm skinUBERON:000426398.22gold quality
left ventricle myocardiumUBERON:000656697.92gold quality
tibialis anteriorUBERON:000138597.91gold quality
ileal mucosaUBERON:000033197.22gold quality
pharyngeal mucosaUBERON:000035596.60gold quality
monocyteCL:000057696.46gold quality
trabecular bone tissueUBERON:000248396.41gold quality
cardiac muscle of right atriumUBERON:000337996.39gold quality
biceps brachiiUBERON:000150796.19gold quality
leukocyteCL:000073896.15gold quality
pigmented layer of retinaUBERON:000178296.11gold quality
myocardiumUBERON:000234996.03gold quality
heart right ventricleUBERON:000208095.92gold quality
vastus lateralisUBERON:000137995.89gold quality
oral cavityUBERON:000016795.85gold quality
body of tongueUBERON:001187695.74gold quality
deltoidUBERON:000147695.56gold quality
quadriceps femorisUBERON:000137795.51gold quality
gingivaUBERON:000182895.50gold quality
cortical plateUBERON:000534395.45gold quality
adult organismUBERON:000702395.37gold quality
ganglionic eminenceUBERON:000402395.24gold quality
gingival epitheliumUBERON:000194994.90gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450294.80gold quality
mammalian vulvaUBERON:000099794.74gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451194.70gold quality
tongueUBERON:000172394.66gold quality
skeletal muscle tissueUBERON:000113494.64gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-GEOD-84465yes22.54
E-HCAD-9yes5.53
E-GEOD-75367no544.51
E-GEOD-125970no3.37
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting STMP1, 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-3613-3P100.0076.367965
HSA-MIR-3646100.0073.565283
HSA-MIR-3120-5P100.0065.56965
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-196A-5P100.0068.16684
HSA-MIR-196B-5P100.0068.16681
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-548P99.9872.253784
HSA-MIR-548N99.9871.944170
HSA-MIR-314899.9775.066478
HSA-MIR-590-3P99.9674.346478
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-767-5P99.9570.85993
HSA-MIR-101-3P99.9475.032230
HSA-MIR-651-3P99.9473.485177
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-145-5P99.9271.131836
HSA-MIR-5195-3P99.9270.921877

Literature-anchored findings (GeneRIF, showing 4)

  • reports the identification by tandem mass spec of a novel protein, proteolipid with a mass of 5,283 Da, (PL-5283). (PMID:17720804)
  • Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget’s disease of bone. (PMID:30705363)
  • Coxiella burnetii Sterol-Modifying Protein Stmp1 Regulates Cholesterol in the Intracellular Niche. (PMID:35073737)
  • Mitochondrial Micropeptide STMP1 Enhances Mitochondrial Fission to Promote Tumor Metastasis. (PMID:35544764)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriostmp1ENSDARG00000093058
mus_musculusStmp1ENSMUSG00000073155
rattus_norvegicusStmp1ENSRNOG00000067332

Protein

Protein identifiers

Short transmembrane mitochondrial protein 1 — E0CX11 (reviewed: E0CX11)

All UniProt accessions (2): A0A096LP97, E0CX11

UniProt curated annotations — full annotation on UniProt →

Function. Microprotein involved in mitochondrial respiratory chain complex III (ubiquinol-cytochrome c oxidoreductase) and complex IV (mitochondrial cytochrome c oxidase complex) assembly. Required for the formation of mitochondrial supercomplexes (SCs). Also required for the activation of the NLRP3 inflammasome.

Subunit / interactions. Interacts with components of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), such as UQCRC1/QCR1, UQCRC2/QCR2 and UQCR10/QCR9. Interacts with components of the cytochrome c oxidase (mitochondrial respiratory chain complex IV) complex, such as MT-CO2.

Subcellular location. Mitochondrion inner membrane. Mitochondrion outer membrane. Mitochondrion intermembrane space.

Tissue specificity. Expressed in monocytes and dendritic cells.

Induction. Down-regulated by bacterial lipopolysaccharide (LPS) in monocytes and dendritic cells.

Similarity. Belongs to the STMP1 family.

RefSeq proteins (1): NP_001124401* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR027854STMP1Family

Pfam: PF15054

UniProt features (2 total): chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-E0CX11-F184.820.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 178 (showing top): GOBP_RESPIRATORY_CHAIN_COMPLEX_IV_ASSEMBLY, GOBP_INFLAMMATORY_RESPONSE, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_INTERLEUKIN_1_PRODUCTION, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, UEDA_PERIFERAL_CLOCK, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (7): positive regulation of interleukin-1 beta production (GO:0032731), mitochondrial respiratory chain complex IV assembly (GO:0033617), mitochondrial respiratory chain complex III assembly (GO:0034551), innate immune response (GO:0045087), mitochondrial respirasome assembly (GO:0097250), positive regulation of NLRP3 inflammasome complex assembly (GO:1900227), immune system process (GO:0002376)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial inner membrane (GO:0005743), mitochondrial intermembrane space (GO:0005758), respiratory chain complex (GO:0098803), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
mitochondrial respiratory chain complex assembly3
mitochondrion2
mitochondrial membrane2
interleukin-1 beta production1
regulation of interleukin-1 beta production1
positive regulation of interleukin-1 production1
respiratory chain complex IV assembly1
respiratory chain complex III assembly1
immune response1
defense response to symbiont1
mitochondrion organization1
positive regulation of protein-containing complex assembly1
NLRP3 inflammasome complex assembly1
positive regulation of inflammasome-mediated signaling pathway1
regulation of NLRP3 inflammasome complex assembly1
biological_process1
binding1
cytoplasm1
intracellular membrane-bounded organelle1
organelle outer membrane1
organelle inner membrane1
mitochondrial envelope1
organelle envelope lumen1
protein-containing complex1
cellular anatomical structure1

Protein interactions and networks

STRING

186 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
STMP1C2orf81A6NN90620
STMP1CCDC154A6NI56594
STMP1IQCNQ9H0B3572
STMP1GOLGA6L7A0A1B0GV03507
STMP1JAKMIP3Q5VZ66479
STMP1LUZP6Q538Z0447
STMP1OR5J2Q8NH18435
STMP1NUP205Q92621429
STMP1RIN3Q8TB24427
STMP1MYO3BQ8WXR4417
STMP1ELOA2Q8IYF1414
STMP1FAM180AQ6UWF9398
STMP1CTDNEP1O95476394
STMP1RIIAD1A6NNX1392
STMP1ZNF658Q5TYW1390

IntAct

5 interactions, top by confidence:

ABTypeScore
STMP1SGTApsi-mi:“MI:0915”(physical association)0.560
BMI1MEIS3P1psi-mi:“MI:0914”(association)0.350
SGTASTMP1psi-mi:“MI:0915”(physical association)0.000

BioGRID (2): C7orf73 (Two-hybrid), PYGB (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0B4J2F0, A0A1D8PLP3, A1XQS1, A5E7J0, A5Z2X5, A7TQM5, A8E7D3, B3DFP2, B7Z0X7, C0HK61, C0HK65, C0HLN0, C5DE77, C6Y4A3, E0CX11, E1BHC3, G2TRJ9, L0R6Q1, O13931, O22912, O74433, O94705, P07255, P0DJ07, P0DJE0, P0DKM0, P0DP99, P19173, P20610, P22289, P48505, P81449, P81450, Q02820, Q42841, Q54QR8, Q6BPV1, Q6CCF6, Q6CMH6, Q6CS34

Diamond homologs: B3DFW5, E0CX11, P0DP99

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance1
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1092 predictions. Top by Δscore:

VariantEffectΔscore
7:135662591:CCTGG:Cdonor_loss1.0000
7:135662592:CTGG:Cdonor_loss1.0000
7:135662593:TGGTG:Tdonor_loss1.0000
7:135662594:GGTG:Gdonor_loss1.0000
7:135662595:GT:Gdonor_loss1.0000
7:135672747:TTTCA:Tacceptor_loss1.0000
7:135672748:TTCA:Tacceptor_loss1.0000
7:135672749:TCAG:Tacceptor_loss1.0000
7:135672750:CA:Cacceptor_loss1.0000
7:135672751:A:AGacceptor_gain1.0000
7:135672751:AGCTT:Aacceptor_gain1.0000
7:135672752:G:GAacceptor_gain1.0000
7:135672752:G:GTacceptor_loss1.0000
7:135672752:GCTT:Gacceptor_gain1.0000
7:135672752:GCTTG:Gacceptor_gain1.0000
7:135672804:GAT:Gdonor_gain1.0000
7:135672807:G:GGdonor_gain1.0000
7:135673390:G:Tdonor_gain1.0000
7:135684117:AAC:Adonor_loss1.0000
7:135684118:ACT:Adonor_loss1.0000
7:135684119:CT:Cdonor_loss1.0000
7:135684120:TCA:Tdonor_loss1.0000
7:135684121:CACC:Cdonor_loss1.0000
7:135684122:ACCAT:Adonor_loss1.0000
7:135684195:C:CCacceptor_gain1.0000
7:135685513:ATTAC:Adonor_loss1.0000
7:135685514:TTACT:Tdonor_loss1.0000
7:135685516:ACTC:Adonor_loss1.0000
7:135685518:T:TAdonor_loss1.0000
7:135685519:C:CCdonor_loss1.0000

AlphaMissense

304 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:135672759:T:CF8L0.986
7:135672761:T:AF8L0.986
7:135672761:T:GF8L0.986
7:135672780:G:AG15R0.985
7:135672780:G:CG15R0.985
7:135672778:T:AV14D0.983
7:135672781:G:AG15E0.981
7:135672793:C:AA19D0.981
7:135672760:T:CF8S0.973
7:135672768:G:CG11R0.973
7:135672773:C:AN12K0.972
7:135672773:C:GN12K0.972
7:135672781:G:TG15V0.968
7:135672754:T:AL6H0.963
7:135672786:T:GY17D0.960
7:135672797:G:CQ20H0.954
7:135672797:G:TQ20H0.954
7:135672775:T:AV13E0.950
7:135672769:G:TG11V0.949
7:135672772:A:TN12I0.947
7:135674125:A:TK35I0.946
7:135672763:C:AT9K0.945
7:135672769:G:AG11D0.943
7:135672756:G:AG7R0.942
7:135672756:G:CG7R0.942
7:135672799:A:TN21I0.940
7:135672757:G:AG7E0.939
7:135672763:C:GT9R0.934
7:135672754:T:GL6R0.929
7:135662589:T:CF4L0.927

dbSNP variants (sampled 300 via entrez): RS1000193056 (7:135663687 G>A), RS1000224094 (7:135663910 C>T), RS1000310133 (7:135660711 G>A), RS1000321893 (7:135673390 G>A), RS1000530772 (7:135662529 C>A,G,T), RS1000563393 (7:135662648 C>G), RS1000726036 (7:135668604 A>G), RS1000792370 (7:135670200 G>A), RS1001094660 (7:135668298 T>C), RS1001374413 (7:135663084 C>G), RS1001522580 (7:135669377 A>G), RS1001676095 (7:135676157 G>C,T), RS1001849773 (7:135667747 A>C,G), RS1001882300 (7:135668196 T>C), RS1001995286 (7:135667648 C>T)

Disease associations

OMIM: gene MIM:618755 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

StudyTraitp-value
GCST004599_60Mean platelet volume8.000000e-09
GCST004607_164Plateletcrit3.000000e-14
GCST004630_264Mean corpuscular hemoglobin3.000000e-09
GCST008839_150Height8.000000e-09
GCST009066_12Mosaic loss of chromosome Y (Y chromosome dosage)8.000000e-32
GCST009067_14Mosaic loss of chromosome Y (Y chromosome dosage)2.000000e-38
GCST90002390_228Mean corpuscular hemoglobin6.000000e-19
GCST90002392_339Mean corpuscular volume1.000000e-15
GCST90002395_703Mean platelet volume3.000000e-25
GCST90002396_358Mean reticulocyte volume7.000000e-11
GCST90002397_313Mean spheric corpuscular volume6.000000e-15
GCST90002400_56Plateletcrit3.000000e-19
GCST90002400_57Plateletcrit8.000000e-14
GCST90002402_35Platelet count2.000000e-11

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0007985platelet crit
EFO:0004527mean corpuscular hemoglobin
EFO:0007783mosaic loss of chromosome Y measurement
EFO:0010701mean reticulocyte volume
EFO:0004309platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aincreases expression1
sodium arsenitedecreases expression1
NSC 689534affects binding, decreases expression1
Air Pollutantsdecreases expression, increases abundance1
Copperaffects binding, decreases expression1
Thiramdecreases expression1
Valproic Acidincreases expression1
Cyclosporinedecreases expression1
Cadmium Chlorideincreases expression1
Particulate Matterdecreases expression, increases abundance1

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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot