UniProtKB - Q6UXG2 (ELAP1_HUMAN)
Endosome/lysosome-associated apoptosis and autophagy regulator 1
ELAPOR1
Functioni
May protect cells from cell death by inducing cytosolic vacuolization and up-regulating the autophagy pathway (PubMed:21072319).
May play a role in apoptosis and cell proliferation through its interaction with HSPA5 (PubMed:26045166).
2 PublicationsGO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- autophagosome assembly Source: BHF-UCL
- cellular response to starvation Source: BHF-UCL
- positive regulation of autophagosome assembly Source: BHF-UCL
- positive regulation of vacuole organization Source: BHF-UCL
Keywordsi
Biological process | Autophagy |
Enzyme and pathway databases
PathwayCommonsi | Q6UXG2 |
SignaLinki | Q6UXG2 |
Names & Taxonomyi
Protein namesi | Recommended name: Endosome/lysosome-associated apoptosis and autophagy regulator 1CuratedAlternative name(s): Estrogen-induced gene 121 protein1 Publication |
Gene namesi | ORF Names:UNQ2426/PRO4985Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29618, ELAPOR1 |
MIMi | 611298, gene |
neXtProti | NX_Q6UXG2 |
VEuPathDBi | HostDB:ENSG00000116299 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication; Single-pass membrane protein 1 Publication
Plasma membrane
- Cell membrane 2 Publications; Single-pass type I membrane protein 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Endosome
- Late endosome membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Golgi apparatus
- trans-Golgi network membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Endosome
- late endosome membrane Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB-SubCell
Lysosome
- lysosomal membrane Source: UniProtKB-SubCell
Plasma Membrane
- integral component of plasma membrane Source: BHF-UCL
- plasma membrane Source: HPA
Other locations
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 42 – 910 | ExtracellularSequence analysisAdd BLAST | 869 | |
Transmembranei | 911 – 931 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 932 – 1013 | CytoplasmicSequence analysisAdd BLAST | 82 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 57535 |
OpenTargetsi | ENSG00000116299 |
PharmGKBi | PA142671607 |
Miscellaneous databases
Pharosi | Q6UXG2, Tbio |
Genetic variation databases
BioMutai | KIAA1324 |
DMDMi | 147647000 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 41 | Sequence analysisAdd BLAST | 41 | |
ChainiPRO_0000286600 | 42 – 1013 | Endosome/lysosome-associated apoptosis and autophagy regulator 1Add BLAST | 972 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 153 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 278 ↔ 295 | By similarity | ||
Disulfide bondi | 308 ↔ 330 | By similarity | ||
Disulfide bondi | 311 ↔ 342 | By similarity | ||
Glycosylationi | 404 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 658 ↔ 704 | PROSITE-ProRule annotation | ||
Glycosylationi | 672 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 714 ↔ 739 | PROSITE-ProRule annotation | ||
Disulfide bondi | 808 ↔ 844 | PROSITE-ProRule annotation | ||
Disulfide bondi | 820 ↔ 856 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q6UXG2 |
jPOSTi | Q6UXG2 |
MassIVEi | Q6UXG2 |
MaxQBi | Q6UXG2 |
PaxDbi | Q6UXG2 |
PeptideAtlasi | Q6UXG2 |
PRIDEi | Q6UXG2 |
ProteomicsDBi | 67605 [Q6UXG2-1] 67606 [Q6UXG2-2] 67607 [Q6UXG2-3] 67608 [Q6UXG2-4] |
PTM databases
GlyConnecti | 1884, 12 N-Linked glycans (3 sites) |
GlyGeni | Q6UXG2, 8 sites, 12 N-linked glycans (3 sites) |
iPTMneti | Q6UXG2 |
PhosphoSitePlusi | Q6UXG2 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000116299, Expressed in parotid gland and 173 other tissues |
ExpressionAtlasi | Q6UXG2, baseline and differential |
Genevisiblei | Q6UXG2, HS |
Organism-specific databases
HPAi | ENSG00000116299, Tissue enhanced (pancreas, salivary gland, stomach) |
Interactioni
Subunit structurei
Interacts with HSPA5; may regulate the function of HSPA5 in apoptosis and cell proliferation.
1 PublicationBinary interactionsi
Isoform 3 [Q6UXG2-3]
Protein-protein interaction databases
BioGRIDi | 121594, 64 interactors |
IntActi | Q6UXG2, 12 interactors |
STRINGi | 9606.ENSP00000358955 |
Miscellaneous databases
RNActi | Q6UXG2, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q6UXG2 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 656 – 858 | MRHPROSITE-ProRule annotationAdd BLAST | 203 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00940000156861 |
HOGENOMi | CLU_005066_0_0_1 |
InParanoidi | Q6UXG2 |
OMAi | RYFHRFN |
OrthoDBi | 192139at2759 |
PhylomeDBi | Q6UXG2 |
TreeFami | TF315906 |
Family and domain databases
InterProi | View protein in InterPro IPR039181, EIG121-like IPR009030, Growth_fac_rcpt_cys_sf IPR009011, Man6P_isomerase_rcpt-bd_dom_sf IPR044865, MRH_dom |
PANTHERi | PTHR22727, PTHR22727, 1 hit |
SUPFAMi | SSF50911, SSF50911, 1 hit SSF57184, SSF57184, 2 hits |
PROSITEi | View protein in PROSITE PS51914, MRH, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEPGHSHHL SARVRGRTER RIPRLWRLLL WAGTAFQVTQ GTGPELHACK
60 70 80 90 100
ESEYHYEYTA CDSTGSRWRV AVPHTPGLCT SLPDPIKGTE CSFSCNAGEF
110 120 130 140 150
LDMKDQSCKP CAEGRYSLGT GIRFDEWDEL PHGFASLSAN MELDDSAAES
160 170 180 190 200
TGNCTSSKWV PRGDYIASNT DECTATLMYA VNLKQSGTVN FEYYYPDSSI
210 220 230 240 250
IFEFFVQNDQ CQPNADDSRW MKTTEKGWEF HSVELNRGNN VLYWRTTAFS
260 270 280 290 300
VWTKVPKPVL VRNIAITGVA YTSECFPCKP GTYADKQGSS FCKLCPANSY
310 320 330 340 350
SNKGETSCHQ CDPDKYSEKG SSSCNVRPAC TDKDYFYTHT ACDANGETQL
360 370 380 390 400
MYKWAKPKIC SEDLEGAVKL PASGVKTHCP PCNPGFFKTN NSTCQPCPYG
410 420 430 440 450
SYSNGSDCTR CPAGTEPAVG FEYKWWNTLP TNMETTVLSG INFEYKGMTG
460 470 480 490 500
WEVAGDHIYT AAGASDNDFM ILTLVVPGFR PPQSVMADTE NKEVARITFV
510 520 530 540 550
FETLCSVNCE LYFMVGVNSR TNTPVETWKG SKGKQSYTYI IEENTTTSFT
560 570 580 590 600
WAFQRTTFHE ASRKYTNDVA KIYSINVTNV MNGVASYCRP CALEASDVGS
610 620 630 640 650
SCTSCPAGYY IDRDSGTCHS CPTNTILKAH QPYGVQACVP CGPGTKNNKI
660 670 680 690 700
HSLCYNDCTF SRNTPTRTFN YNFSALANTV TLAGGPSFTS KGLKYFHHFT
710 720 730 740 750
LSLCGNQGRK MSVCTDNVTD LRIPEGESGF SKSITAYVCQ AVIIPPEVTG
760 770 780 790 800
YKAGVSSQPV SLADRLIGVT TDMTLDGITS PAELFHLESL GIPDVIFFYR
810 820 830 840 850
SNDVTQSCSS GRSTTIRVRC SPQKTVPGSL LLPGTCSDGT CDGCNFHFLW
860 870 880 890 900
ESAAACPLCS VADYHAIVSS CVAGIQKTTY VWREPKLCSG GISLPEQRVT
910 920 930 940 950
ICKTIDFWLK VGISAGTCTA ILLTVLTCYF WKKNQKLEYK YSKLVMNATL
960 970 980 990 1000
KDCDLPAADS CAIMEGEDVE DDLIFTSKKS LFGKIKSFTS KRTPDGFDSV
1010
PLKTSSGGLD MDL
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PB18 | E9PB18_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 901 | Annotation score: | ||
E9PLQ2 | E9PLQ2_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 205 | Annotation score: | ||
E9PMS2 | E9PMS2_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 91 | Annotation score: | ||
E9PS21 | E9PS21_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 152 | Annotation score: | ||
E9PLY8 | E9PLY8_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 155 | Annotation score: | ||
H0YDD2 | H0YDD2_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 82 | Annotation score: | ||
E9PIF6 | E9PIF6_HUMAN | Endosome/lysosome-associated apopto... | ELAPOR1 | 62 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 239 | N → K in AAI25209 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032138 | 86 | I → V2 PublicationsCorresponds to variant dbSNP:rs678238Ensembl. | 1 | |
Natural variantiVAR_032139 | 623 | T → P3 PublicationsCorresponds to variant dbSNP:rs659543Ensembl. | 1 | |
Natural variantiVAR_035751 | 829 | S → R in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_032140 | 1009 | L → P1 PublicationCorresponds to variant dbSNP:rs1052878Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025115 | 261 – 347 | Missing in isoform 3. 1 PublicationAdd BLAST | 87 | |
Alternative sequenceiVSP_025116 | 992 – 1013 | RTPDG…LDMDL → FKDS in isoform 2. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_025117 | 992 – 1013 | RTPDG…LDMDL → QPAPVTISLSEDS in isoform 4. 1 PublicationAdd BLAST | 22 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358366 mRNA Translation: AAQ88732.1 AL138933 Genomic DNA No translation available. AL356389 Genomic DNA No translation available. BC125208 mRNA Translation: AAI25209.1 AB037745 mRNA Translation: BAA92562.1 |
CCDSi | CCDS58015.1 [Q6UXG2-3] CCDS794.1 [Q6UXG2-1] |
RefSeqi | NP_001253977.1, NM_001267048.1 [Q6UXG2-3] NP_065826.2, NM_020775.4 [Q6UXG2-1] XP_011540127.1, XM_011541825.1 [Q6UXG2-4] |
Genome annotation databases
Ensembli | ENST00000369939.8; ENSP00000358955.3; ENSG00000116299.17 ENST00000529753.5; ENSP00000434595.1; ENSG00000116299.17 [Q6UXG2-3] |
GeneIDi | 57535 |
KEGGi | hsa:57535 |
MANE-Selecti | ENST00000369939.8; ENSP00000358955.3; NM_020775.5; NP_065826.3 |
UCSCi | uc009wey.4, human [Q6UXG2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358366 mRNA Translation: AAQ88732.1 AL138933 Genomic DNA No translation available. AL356389 Genomic DNA No translation available. BC125208 mRNA Translation: AAI25209.1 AB037745 mRNA Translation: BAA92562.1 |
CCDSi | CCDS58015.1 [Q6UXG2-3] CCDS794.1 [Q6UXG2-1] |
RefSeqi | NP_001253977.1, NM_001267048.1 [Q6UXG2-3] NP_065826.2, NM_020775.4 [Q6UXG2-1] XP_011540127.1, XM_011541825.1 [Q6UXG2-4] |
3D structure databases
AlphaFoldDBi | Q6UXG2 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121594, 64 interactors |
IntActi | Q6UXG2, 12 interactors |
STRINGi | 9606.ENSP00000358955 |
PTM databases
GlyConnecti | 1884, 12 N-Linked glycans (3 sites) |
GlyGeni | Q6UXG2, 8 sites, 12 N-linked glycans (3 sites) |
iPTMneti | Q6UXG2 |
PhosphoSitePlusi | Q6UXG2 |
Genetic variation databases
BioMutai | KIAA1324 |
DMDMi | 147647000 |
Proteomic databases
EPDi | Q6UXG2 |
jPOSTi | Q6UXG2 |
MassIVEi | Q6UXG2 |
MaxQBi | Q6UXG2 |
PaxDbi | Q6UXG2 |
PeptideAtlasi | Q6UXG2 |
PRIDEi | Q6UXG2 |
ProteomicsDBi | 67605 [Q6UXG2-1] 67606 [Q6UXG2-2] 67607 [Q6UXG2-3] 67608 [Q6UXG2-4] |
Protocols and materials databases
Antibodypediai | 33748, 182 antibodies from 26 providers |
DNASUi | 57535 |
Genome annotation databases
Ensembli | ENST00000369939.8; ENSP00000358955.3; ENSG00000116299.17 ENST00000529753.5; ENSP00000434595.1; ENSG00000116299.17 [Q6UXG2-3] |
GeneIDi | 57535 |
KEGGi | hsa:57535 |
MANE-Selecti | ENST00000369939.8; ENSP00000358955.3; NM_020775.5; NP_065826.3 |
UCSCi | uc009wey.4, human [Q6UXG2-1] |
Organism-specific databases
CTDi | 57535 |
DisGeNETi | 57535 |
GeneCardsi | ELAPOR1 |
HGNCi | HGNC:29618, ELAPOR1 |
HPAi | ENSG00000116299, Tissue enhanced (pancreas, salivary gland, stomach) |
MIMi | 611298, gene |
neXtProti | NX_Q6UXG2 |
OpenTargetsi | ENSG00000116299 |
PharmGKBi | PA142671607 |
VEuPathDBi | HostDB:ENSG00000116299 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00940000156861 |
HOGENOMi | CLU_005066_0_0_1 |
InParanoidi | Q6UXG2 |
OMAi | RYFHRFN |
OrthoDBi | 192139at2759 |
PhylomeDBi | Q6UXG2 |
TreeFami | TF315906 |
Enzyme and pathway databases
PathwayCommonsi | Q6UXG2 |
SignaLinki | Q6UXG2 |
Miscellaneous databases
BioGRID-ORCSi | 57535, 15 hits in 1076 CRISPR screens |
ChiTaRSi | KIAA1324, human |
GenomeRNAii | 57535 |
Pharosi | Q6UXG2, Tbio |
PROi | PR:Q6UXG2 |
RNActi | Q6UXG2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116299, Expressed in parotid gland and 173 other tissues |
ExpressionAtlasi | Q6UXG2, baseline and differential |
Genevisiblei | Q6UXG2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039181, EIG121-like IPR009030, Growth_fac_rcpt_cys_sf IPR009011, Man6P_isomerase_rcpt-bd_dom_sf IPR044865, MRH_dom |
PANTHERi | PTHR22727, PTHR22727, 1 hit |
SUPFAMi | SSF50911, SSF50911, 1 hit SSF57184, SSF57184, 2 hits |
PROSITEi | View protein in PROSITE PS51914, MRH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ELAP1_HUMAN | |
Accessioni | Q6UXG2Primary (citable) accession number: Q6UXG2 Secondary accession number(s): Q08AE6 Q9P2M2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | May 15, 2007 | |
Last modified: | May 25, 2022 | |
This is version 144 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families