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. [provided by RefSeq, ... See more...

Aliases for ELAPOR1 Gene

Aliases for ELAPOR1 Gene

  • Endosome-Lysosome Associated Apoptosis And Autophagy Regulator 1 2 3 5
  • KIAA1324 2 3 4
  • EIG121 2 3 4
  • Endosome/Lysosome-Associated Apoptosis And Autophagy Regulator 1 3 4
  • Estrogen-Induced Gene 121 Protein 3 4
  • Maba1 2 3
  • Estrogen Induced Gene 121 2
  • ELAPOR1 5

External Ids for ELAPOR1 Gene

Previous HGNC Symbols for ELAPOR1 Gene

  • KIAA1324

Previous GeneCards Identifiers for ELAPOR1 Gene

  • GC01P109119

Summaries for ELAPOR1 Gene

Entrez Gene Summary for ELAPOR1 Gene

  • 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. [provided by RefSeq, May 2012]

GeneCards Summary for ELAPOR1 Gene

ELAPOR1 (Endosome-Lysosome Associated Apoptosis And Autophagy Regulator 1) is a Protein Coding gene. Diseases associated with ELAPOR1 include Baastrup's Syndrome and Endometrial Serous Adenocarcinoma. An important paralog of this gene is ELAPOR2.

UniProtKB/Swiss-Prot Summary for ELAPOR1 Gene

  • May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway (PubMed:21072319). May play a role in apoptosis and cell proliferation through its interaction with HSPA5 (PubMed:26045166).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELAPOR1 Gene

Genomics for ELAPOR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELAPOR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELAPOR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELAPOR1

Genomic Locations for ELAPOR1 Gene

Latest Assembly
chr1:109,113,679-109,206,781
(GRCh38/hg38)
Size:
93,103 bases
Orientation:
Plus strand

Previous Assembly
chr1:109,656,737-109,749,403
(GRCh37/hg19 by Entrez Gene)
Size:
92,667 bases
Orientation:
Plus strand

chr1:109,656,301-109,749,401
(GRCh37/hg19 by Ensembl)
Size:
93,101 bases
Orientation:
Plus strand

Genomic View for ELAPOR1 Gene

Genes around ELAPOR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELAPOR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELAPOR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELAPOR1 Gene

Proteins for ELAPOR1 Gene

  • Protein details for ELAPOR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXG2-ELAP1_HUMAN
    Recommended name:
    Endosome/lysosome-associated apoptosis and autophagy regulator 1
    Protein Accession:
    Q6UXG2
    Secondary Accessions:
    • Q08AE6
    • Q5T5C9
    • Q5T5D0
    • Q5T5D1
    • Q9P2M2

    Protein attributes for ELAPOR1 Gene

    Size:
    1013 amino acids
    Molecular mass:
    111382 Da
    Quaternary structure:
    • Interacts with HSPA5; may regulate the function of HSPA5 in apoptosis and cell proliferation.

    Alternative splice isoforms for ELAPOR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELAPOR1 Gene

Post-translational modifications for ELAPOR1 Gene

  • Glycosylation at Asn153, Asn404, Asn576, Asn672, and Asn717
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ELAP1_HUMAN (1884)

No data available for DME Specific Peptides for ELAPOR1 Gene

Domains & Families for ELAPOR1 Gene

Gene Families for ELAPOR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ELAPOR1 Gene

Suggested Antigen Peptide Sequences for ELAPOR1 Gene

GenScript: Design optimal peptide antigens:
  • Estrogen-induced gene 121 protein (K1324_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXG2

UniProtKB/Swiss-Prot:

ELAP1_HUMAN :
  • Belongs to the ELAPOR family.
Family:
  • Belongs to the ELAPOR family.
genes like me logo Genes that share domains with ELAPOR1: view

Function for ELAPOR1 Gene

Molecular function for ELAPOR1 Gene

UniProtKB/Swiss-Prot Function:
May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway (PubMed:21072319). May play a role in apoptosis and cell proliferation through its interaction with HSPA5 (PubMed:26045166).
UniProtKB/Swiss-Prot Induction:
By estrogen replacement therapy.

Phenotypes From GWAS Catalog for ELAPOR1 Gene

Gene Ontology (GO) - Molecular Function for ELAPOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with ELAPOR1: view
genes like me logo Genes that share phenotypes with ELAPOR1: view

Animal Models for ELAPOR1 Gene

MGI Knock Outs for ELAPOR1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAPOR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELAPOR1 Gene

Localization for ELAPOR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELAPOR1 Gene

Cell membrane. Single-pass type I membrane protein. Late endosome membrane. Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane. Single-pass type I membrane protein. Lysosome membrane. Single-pass membrane protein. Endoplasmic reticulum membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELAPOR1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
endosome 3
lysosome 3
golgi apparatus 3
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELAPOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 colocalizes_with lysosome IDA 21072319
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005770 colocalizes_with late endosome IBA,IDA 21072319
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with ELAPOR1: view

Pathways & Interactions for ELAPOR1 Gene

PathCards logo

SuperPathways for ELAPOR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ELAPOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 21072319
GO:0006914 autophagy IEA --
GO:0009267 cellular response to starvation IMP 21072319
GO:0044090 positive regulation of vacuole organization IBA,IMP 21072319
GO:2000786 positive regulation of autophagosome assembly IMP 21072319
genes like me logo Genes that share ontologies with ELAPOR1: view

No data available for Pathways by source and SIGNOR curated interactions for ELAPOR1 Gene

Drugs & Compounds for ELAPOR1 Gene

No Compound Related Data Available

Transcripts for ELAPOR1 Gene

mRNA/cDNA for ELAPOR1 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAPOR1

Alternative Splicing Database (ASD) splice patterns (SP) for ELAPOR1 Gene

No ASD Table

Relevant External Links for ELAPOR1 Gene

GeneLoc Exon Structure for
ELAPOR1

Expression for ELAPOR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELAPOR1

SOURCE GeneReport for Unigene cluster for ELAPOR1 Gene:

Hs.708190

mRNA Expression by UniProt/SwissProt for ELAPOR1 Gene:

Q6UXG2-ELAP1_HUMAN
Tissue specificity: Expressed in normal endometrium but overexpressed in endometroid tumors.

Evidence on tissue expression from TISSUES for ELAPOR1 Gene

  • Nervous system(4.7)
  • Pancreas(2.7)
  • Stomach(2.6)
genes like me logo Genes that share expression patterns with ELAPOR1: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELAPOR1 Gene

Orthologs for ELAPOR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELAPOR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1324 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1324 30 31
  • 91.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA1324 30 31
  • 90.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 5330417C22Rik 30 31
  • 87.38 (n)
OneToOne
Elapor1 17
Oppossum
(Monodelphis domestica)
Mammalia KIAA1324 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1324 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA1324 30 31
  • 70.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1324 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1324 30
  • 64.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.8 30 31
  • 61.39 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y73F8A.5 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for ELAPOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ELAPOR1 Gene

ENSEMBL:
Gene Tree for ELAPOR1 (if available)
TreeFam:
Gene Tree for ELAPOR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELAPOR1: view image

Paralogs for ELAPOR1 Gene

Paralogs for ELAPOR1 Gene

genes like me logo Genes that share paralogs with ELAPOR1: view

Variants for ELAPOR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELAPOR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs61756684 Benign: not provided 109,197,506(+) C/G
NM_020775.5(ELAPOR1):c.2154C>G (p.Val718=)
SYNONYMOUS
rs61756689 Benign: not provided 109,192,859(+) G/A
NM_020775.5(ELAPOR1):c.1932G>A (p.Gly644=)
SYNONYMOUS
VAR_035751 A breast cancer sample p.Ser829Arg
rs1052878 - p.Leu1009Pro
rs659543 - p.Thr623Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELAPOR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ELAPOR1 Gene

Variant ID Type Subtype PubMed ID
esv2661978 CNV deletion 23128226
esv2750798 CNV loss 17911159
esv3302633 CNV tandem duplication 20981092
esv3411231 CNV duplication 20981092
esv3578077 CNV loss 25503493
esv3578078 CNV loss 25503493
esv3587149 CNV loss 21293372
esv3894001 CNV gain 25118596
nsv1008458 CNV gain 25217958
nsv1009592 CNV loss 25217958
nsv1012267 CNV gain 25217958
nsv463128 CNV loss 19166990
nsv520456 CNV loss 19592680
nsv547468 CNV loss 21841781
nsv831026 CNV loss 17160897

Variation tolerance for ELAPOR1 Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELAPOR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELAPOR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELAPOR1 Gene

Disorders for ELAPOR1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ELAPOR1 Gene - From: COP

Disorder Aliases PubMed IDs
baastrup's syndrome
  • baastrup syndrome
endometrial serous adenocarcinoma
  • uterine corpus serous adenocarcinoma
estrogen excess
  • hyperestrogenism
adenoid basal cell carcinoma
  • skin adenoid basal cell carcinoma
mental retardation, autosomal dominant 21
  • mrd21
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ELAPOR1

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ELAPOR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELAPOR1 Gene

Publications for ELAPOR1 Gene

  1. The novel estrogen-induced gene EIG121 regulates autophagy and promotes cell survival under stress. (PMID: 21072319) Deng L … Broaddus RR (Cell death & disease 2010) 2 3 4
  2. Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer. (PMID: 16322283) Deng L … Davies PJ (Clinical cancer research : an official journal of the American Association for Cancer Research 2005) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  4. KIAA1324 Suppresses Gastric Cancer Progression by Inhibiting the Oncoprotein GRP78. (PMID: 26045166) Kang JM … Kim SJ (Cancer research 2015) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for ELAPOR1 Gene

Sources for ELAPOR1 Gene