ELAPOR1

gene
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Also known as maba1EIG121

Summary

ELAPOR1 (endosome-lysosome associated apoptosis and autophagy regulator 1, HGNC:29618) is a protein-coding gene on chromosome 1p13.3, encoding Endosome/lysosome-associated apoptosis and autophagy regulator 1 (Q6UXG2). May protect cells from cell death by inducing cytosolic vacuolization and up-regulating the autophagy pathway.

Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 57535 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 186 total
  • MANE Select transcript: NM_020775

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29618
Approved symbolELAPOR1
Nameendosome-lysosome associated apoptosis and autophagy regulator 1
Location1p13.3
Locus typegene with protein product
StatusApproved
Aliasesmaba1, EIG121
Ensembl geneENSG00000116299
Ensembl biotypeprotein_coding
OMIM611298
Entrez57535

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000369936, ENST00000369938, ENST00000369939, ENST00000457623, ENST00000464345, ENST00000490758, ENST00000526264, ENST00000527501, ENST00000527996, ENST00000529753, ENST00000531664, ENST00000533147, ENST00000533374, ENST00000534476, ENST00000899218, ENST00000899219, ENST00000899220, ENST00000899221, ENST00000899222

RefSeq mRNA: 4 — MANE Select: NM_020775 NM_001267048, NM_001284352, NM_001284353, NM_020775

CCDS: CCDS58015, CCDS794

Canonical transcript exons

ENST00000369939 — 22 exons

ExonStartEnd
ENSE00001451285109202944109206781
ENSE00002163328109114115109114336
ENSE00003470599109197979109198075
ENSE00003484362109172488109172568
ENSE00003484805109194421109194594
ENSE00003488054109191726109191863
ENSE00003489143109189592109189682
ENSE00003491577109185045109185133
ENSE00003505690109191366109191471
ENSE00003558615109198573109198674
ENSE00003581990109188177109188354
ENSE00003585024109173474109173579
ENSE00003608796109192611109192874
ENSE00003621108109200735109200900
ENSE00003626838109199854109199980
ENSE00003630586109200059109200237
ENSE00003677105109197474109197654
ENSE00003687030109173688109173837
ENSE00003688933109189066109189194
ENSE00003790100109161894109162014
ENSE00003790131109171866109172013
ENSE00003791525109164499109164691

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 99.77.

FANTOM5 (CAGE): breadth broad, TPM avg 13.6545 / max 1392.7037, expressed in 669 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
438812.2798420
43840.4217178
43900.4121229
43870.3770169
43860.106642
43850.057436

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
parotid glandUBERON:000183199.77gold quality
body of pancreasUBERON:000115098.09gold quality
islet of LangerhansUBERON:000000697.27gold quality
tracheaUBERON:000312697.14gold quality
olfactory segment of nasal mucosaUBERON:000538696.96gold quality
pylorusUBERON:000116696.76gold quality
bronchial epithelial cellCL:000232896.46gold quality
pancreasUBERON:000126496.46gold quality
pituitary glandUBERON:000000795.85gold quality
rectumUBERON:000105295.27gold quality
mucosa of sigmoid colonUBERON:000499394.91gold quality
right uterine tubeUBERON:000130294.70gold quality
adenohypophysisUBERON:000219694.67gold quality
nasal cavity mucosaUBERON:000182694.37gold quality
mammary ductUBERON:000176593.86gold quality
epithelium of mammary glandUBERON:000324493.21gold quality
saliva-secreting glandUBERON:000104492.97gold quality
bronchusUBERON:000218592.96gold quality
colonic mucosaUBERON:000031792.91gold quality
epithelium of bronchusUBERON:000203192.80gold quality
duodenumUBERON:000211492.58gold quality
jejunal mucosaUBERON:000039991.66gold quality
prostate glandUBERON:000236791.34gold quality
minor salivary glandUBERON:000183091.25gold quality
endometriumUBERON:000129590.67gold quality
cardia of stomachUBERON:000116290.59gold quality
mucosa of transverse colonUBERON:000499190.34gold quality
corpus epididymisUBERON:000435990.05gold quality
ileal mucosaUBERON:000033189.28gold quality
ganglionic eminenceUBERON:000402389.18gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

ExperimentMarker?Max mean expression
E-MTAB-10287yes279.14
E-MTAB-8060yes107.59
E-MTAB-5061yes30.75
E-GEOD-81547yes27.00
E-GEOD-125970yes14.08
E-HCAD-13yes7.38
E-GEOD-70580no940.90
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting ELAPOR1, 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-450A-1-3P100.0069.331837
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-6759-5P99.9966.54785
HSA-MIR-56899.9869.862084
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-1213699.9872.815713
HSA-MIR-6793-5P99.9765.95758
HSA-MIR-211099.9666.681930
HSA-MIR-448799.9664.581252
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-568899.9673.234504
HSA-MIR-651-3P99.9473.485177
HSA-MIR-627-3P99.9071.423316
HSA-MIR-380-3P99.8970.181978
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-612499.8769.783551
HSA-MIR-477999.8666.501583
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-132199.8465.301811
HSA-MIR-473999.8465.251832
HSA-MIR-4756-5P99.8464.981809
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-548AZ-5P99.8369.943230
HSA-MIR-548T-5P99.8369.913220
HSA-MIR-430799.8270.453374

Literature-anchored findings (GeneRIF, showing 10)

  • Down-regulation of KIAA1324 protein is associated with endometrial cancer (PMID:16322283)
  • EIG121 may protect cells from cell death by upregulating the autophagy pathway. (PMID:21072319)
  • High expression of ERalpha and the estrogen-induced gene EIG121 predicts shorter overall survival in patients with high-grade serous ovarian carcinoma. (PMID:21102415)
  • A tumor suppressive role of KIAA1324 via inhibition of GRP78 oncoprotein activities in gastric cancer (PMID:26045166)
  • The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here (PMID:27230222)
  • it was found that EIG121 exerted dual functions in the regulation of autophagy and stemness not only in normal JEC cells but also JEC obtained CSCs. These findings could be useful for developing targeted therapies for endometrial carcinoma (PMID:28656197)
  • Altered Expression of Three EGFR Posttranslational Regulators MDGI, MIG6, and EIG121 in Invasive Breast Carcinomas. (PMID:32377505)
  • Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer. (PMID:33455017)
  • Inceptor counteracts insulin signalling in beta-cells to control glycaemia. (PMID:33505018)
  • ELAPOR1 is a secretory granule maturation-promoting factor that is lost during paligenosis. (PMID:34816763)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioelapor1ENSDARG00000042899
mus_musculusElapor1ENSMUSG00000040412
rattus_norvegicusElapor1ENSRNOG00000020272

Paralogs (1): ELAPOR2 (ENSG00000164659)

Protein

Protein identifiers

Endosome/lysosome-associated apoptosis and autophagy regulator 1Q6UXG2 (reviewed: Q6UXG2)

Alternative names: Estrogen-induced gene 121 protein

All UniProt accessions (8): E9PB18, E9PIF6, E9PLQ2, E9PLY8, E9PMS2, E9PS21, Q6UXG2, H0YDD2

UniProt curated annotations — full annotation on UniProt →

Function. May protect cells from cell death by inducing cytosolic vacuolization and up-regulating the autophagy pathway. May play a role in apoptosis and cell proliferation through its interaction with HSPA5.

Subunit / interactions. Interacts with HSPA5; may regulate the function of HSPA5 in apoptosis and cell proliferation.

Subcellular location. Cell membrane. Late endosome membrane. Golgi apparatus. trans-Golgi network membrane. Lysosome membrane. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in normal endometrium but overexpressed in endometroid tumors.

Induction. By estrogen replacement therapy.

Similarity. Belongs to the ELAPOR family.

Isoforms (4)

UniProt IDNamesCanonical?
Q6UXG2-11yes
Q6UXG2-22
Q6UXG2-33
Q6UXG2-44

RefSeq proteins (4): NP_001253977, NP_001271281, NP_001271282, NP_065826* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR009011Man6P_isomerase_rcpt-bd_dom_sfHomologous_superfamily
IPR009030Growth_fac_rcpt_cys_sfHomologous_superfamily
IPR039181Elapor1/2Family
IPR044865MRH_domDomain
IPR056606Elapor1/2_CDomain
IPR056607Elapor1/2_MRHDomain
IPR056608Elapor1/2_GBDDomain
IPR056609Elapor1-like_3rdDomain
IPR056610Elapor1/2_TNFR-likeDomain

Pfam: PF23031, PF23032, PF23087, PF23089, PF23091

UniProt features (24 total): disulfide bond 7, sequence variant 4, splice variant 3, glycosylation site 3, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6UXG2-F177.330.27

Functional residue map

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

Disulfide bonds (7): 308–330, 311–342, 658–704, 714–739, 808–844, 820–856, 278–295

Glycosylation sites (3): 153, 404, 672

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 210 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, BENPORATH_ES_WITH_H3K27ME3, GOBP_VACUOLE_ORGANIZATION, XU_GH1_AUTOCRINE_TARGETS_UP, GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_VACUOLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION

GO Biological Process (5): autophagosome assembly (GO:0000045), cellular response to starvation (GO:0009267), positive regulation of vacuole organization (GO:0044090), positive regulation of autophagosome assembly (GO:2000786), autophagy (GO:0006914)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (12): lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), late endosome membrane (GO:0031902), extracellular exosome (GO:0070062), lysosome (GO:0005764), endosome (GO:0005768), late endosome (GO:0005770), endoplasmic reticulum (GO:0005783), trans-Golgi network (GO:0005802), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
endomembrane system3
cytoplasm2
intracellular membrane-bounded organelle2
Atg12 activating enzyme activity1
protein-phosphatidylethanolamide deconjugating activity1
Atg12 conjugating enzyme activity1
Atg12 ligase activity1
organelle assembly1
Atg1/ULK1 kinase complex assembly1
autophagosome organization1
cellular response to nutrient levels1
cellular response to stress1
response to starvation1
vacuole organization1
positive regulation of organelle organization1
regulation of vacuole organization1
autophagosome assembly1
positive regulation of macroautophagy1
positive regulation of vacuole organization1
positive regulation of organelle assembly1
regulation of autophagosome assembly1
catabolic process1
transmembrane transport1
process utilizing autophagic mechanism1
nucleic acid binding1
binding1
lysosome1
lytic vacuole membrane1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
membrane1
cell periphery1
late endosome1
endosome membrane1
extracellular vesicle1
lytic vacuole1
cytoplasmic vesicle1
endosome1
Golgi apparatus subcompartment1

Protein interactions and networks

STRING

880 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ELAPOR1HACE1Q8IYU2942
ELAPOR1OR6S1Q8NH40399
ELAPOR1S4R3Q2S4R3Q2396
ELAPOR1C9orf152Q5JTZ5394
ELAPOR1C11orf96Q7Z7L8391
ELAPOR1TFF2Q03403376
ELAPOR1BTBD7Q9P203325
ELAPOR1RNF175Q8N4F7325
ELAPOR1TMEM9BQ9NQ34323
ELAPOR1SPNS3Q6ZMD2322
ELAPOR1C17orf67Q0P5P2320
ELAPOR1CMC2Q9NRP2319
ELAPOR1ASRGL1Q7L266319
ELAPOR1SPDEFO95238316
ELAPOR1SEZ6Q53EL9315

IntAct

4 interactions, top by confidence:

ABTypeScore
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
ELAPOR1KLHL41psi-mi:“MI:0914”(association)0.350

BioGRID (16): KIAA1324 (Affinity Capture-MS), KIAA1324 (Proximity Label-MS), CIB1 (Two-hybrid), KIAA1324 (Affinity Capture-MS), KIAA1324 (Two-hybrid), KIAA1324 (Two-hybrid), KIAA1324 (Affinity Capture-MS), KIAA1324 (Affinity Capture-RNA), TMEM131 (Affinity Capture-MS), OSBPL3 (Affinity Capture-MS), TAF1A (Affinity Capture-MS), IQCB1 (Affinity Capture-MS), TAF6L (Affinity Capture-MS), DCUN1D5 (Affinity Capture-MS), KLHL41 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5PUP4, A2AFS3, M0R7X9, O70472, O75882, O95803, P01134, P26012, P52799, P52848, P69849, Q02353, Q05204, Q0VCJ8, Q12841, Q13635, Q15155, Q3UHN9, Q3ZBS2, Q58D84, Q5EA46, Q5JPE7, Q5R9Y1, Q5U4X8, Q5VV63, Q5ZJB7, Q5ZMH6, Q61115, Q62356, Q62632, Q6A051, Q6GQK9, Q6GQT9, Q6P988, Q6UXG2, Q7Z5A7, Q86TD4, Q90693, Q91WE9, Q96CW9

Diamond homologs: A2AFS3, A7E2Z9, A8MWY0, Q3UZV7, Q6DDW2, Q6UXG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance148
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3654 predictions. Top by Δscore:

VariantEffectΔscore
1:109162010:GTGCT:Gdonor_gain1.0000
1:109162012:GCT:Gdonor_gain1.0000
1:109162015:G:GGdonor_gain1.0000
1:109164690:TC:Tdonor_gain1.0000
1:109164692:G:GGdonor_gain1.0000
1:109171860:TCACA:Tacceptor_loss1.0000
1:109171861:CACAG:Cacceptor_loss1.0000
1:109171863:CA:Cacceptor_loss1.0000
1:109171864:A:AGacceptor_gain1.0000
1:109171865:G:GGacceptor_gain1.0000
1:109172003:T:Gdonor_gain1.0000
1:109172003:T:TGdonor_gain1.0000
1:109172009:TTTTC:Tdonor_gain1.0000
1:109172011:TTCGT:Tdonor_loss1.0000
1:109172012:TC:Tdonor_gain1.0000
1:109172012:TCG:Tdonor_loss1.0000
1:109172013:CGTA:Cdonor_loss1.0000
1:109172014:G:GGdonor_gain1.0000
1:109172014:GTAA:Gdonor_loss1.0000
1:109172569:G:GGdonor_gain1.0000
1:109173686:AGG:Aacceptor_gain1.0000
1:109173687:GGG:Gacceptor_gain1.0000
1:109189055:T:TAacceptor_gain1.0000
1:109189065:GACT:Gacceptor_gain1.0000
1:109189590:A:AGacceptor_gain1.0000
1:109189590:AGGCT:Aacceptor_gain1.0000
1:109189591:G:GGacceptor_gain1.0000
1:109189591:GGCT:Gacceptor_gain1.0000
1:109189591:GGCTG:Gacceptor_gain1.0000
1:109189676:GATT:Gdonor_gain1.0000

AlphaMissense

6646 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:109171873:T:AW159R1.000
1:109171873:T:CW159R1.000
1:109171875:G:CW159C1.000
1:109171875:G:TW159C1.000
1:109161944:G:CW68C0.999
1:109161944:G:TW68C0.999
1:109164507:T:AC95S0.999
1:109164508:G:AC95Y0.999
1:109164508:G:CC95S0.999
1:109164509:C:GC95W0.999
1:109164546:T:AC108S0.999
1:109164547:G:CC108S0.999
1:109164603:T:AW127R0.999
1:109164603:T:CW127R0.999
1:109164605:G:CW127C0.999
1:109164605:G:TW127C0.999
1:109171928:T:CL177P0.999
1:109172503:T:AC211S0.999
1:109172503:T:CC211R0.999
1:109172504:G:CC211S0.999
1:109173507:T:AW244R0.999
1:109173507:T:CW244R0.999
1:109173708:T:AC275S0.999
1:109173708:T:CC275R0.999
1:109173709:G:CC275S0.999
1:109173710:C:GC275W0.999
1:109189594:T:AW451R0.999
1:109189594:T:CW451R0.999
1:109191831:T:AW551R0.999
1:109191831:T:CW551R0.999

dbSNP variants (sampled 300 via entrez): RS1000014361 (1:109167000 GTTATT>G), RS1000055141 (1:109189987 A>C,G), RS1000184264 (1:109121982 T>C), RS1000220981 (1:109160483 A>G), RS1000263806 (1:109125177 C>T), RS1000295161 (1:109124894 C>T), RS1000299933 (1:109172759 T>C), RS1000386080 (1:109176626 T>A,G), RS1000415063 (1:109130982 T>C,G), RS1000417297 (1:109176941 G>T), RS1000427816 (1:109134615 G>C,T), RS1000436891 (1:109172374 T>C), RS1000515977 (1:109137585 T>C), RS1000518349 (1:109146464 C>T), RS1000533197 (1:109202066 C>T)

Disease associations

OMIM: gene MIM:611298 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST002941_5Airway imaging phenotypes2.000000e-06
GCST010243_253Apolipoprotein B levels2.000000e-09
GCST90007009_9Gut microbiota relative abundance (Faecalibacterium)8.000000e-06

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0007627airway imaging measurement
EFO:0004615apolipoprotein B measurement
EFO:0007874gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases methylation, increases expression3
Aflatoxin B1decreases methylation, increases expression3
Particulate Matterincreases abundance, increases expression, affects expression, decreases expression3
sodium arsenitedecreases expression, increases expression2
Air Pollutantsincreases abundance, increases expression2
Cisplatinaffects cotreatment, increases expression2
Estradiolaffects cotreatment, increases expression, decreases expression2
Valproic Acidincreases expression, affects expression2
aristolochic acid Iincreases expression1
methyleugenolincreases expression1
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
bisphenol Adecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
entinostatincreases expression1
jinfukangaffects cotreatment, increases expression1
NSC 689534affects binding, increases expression1
Resveratrolaffects cotreatment, decreases expression1
Temozolomidedecreases expression1
Norethindrone Acetateaffects cotreatment, increases expression1
Calcitriolincreases expression1
Copperaffects binding, increases expression1
Coumestrolaffects cotreatment, decreases expression1
Formaldehydedecreases expression1
Lipopolysaccharidesaffects response to substance, increases expression, affects cotreatment1
N-Nitrosopyrrolidineincreases expression1
Nickeldecreases expression1
Smokeincreases abundance, increases expression1
Testosteroneincreases expression1

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.