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ELAPOR1 (endosome-lysosome associated apoptosis and autophagy regulator 1)

Identity

Alias (NCBI)EIG121
KIAA1324
HGNC (Hugo) ELAPOR1
HGNC Alias symbmaba1
EIG121
HGNC Alias nameestrogen induced gene 121
HGNC Previous nameKIAA1324
HGNC Previous nameKIAA1324
LocusID (NCBI) 57535
Atlas_Id 46018
Location 1p13.3  [Link to chromosome band 1p13]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GNAI3 1p13.3 / KIAA1324 1p13.3SARS 1p13.3 / KIAA1324 1p13.3TRAF3IP2 6q21 / KIAA1324 1p13.3
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute



External links

 

Nomenclature
HGNC (Hugo)ELAPOR1   29618
Cards
Entrez_Gene (NCBI)ELAPOR1    endosome-lysosome associated apoptosis and autophagy regulator 1
AliasesEIG121; KIAA1324
GeneCards (Weizmann)ELAPOR1
Ensembl hg19 (Hinxton)ENSG00000116299 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116299 [Gene_View]  ENSG00000116299 [Sequence]  - [Contig_View]  ELAPOR1 [Vega]
ICGC DataPortalENSG00000116299
TCGA cBioPortalELAPOR1
AceView (NCBI)ELAPOR1
Genatlas (Paris)ELAPOR1
SOURCE (Princeton)ELAPOR1
Genetics Home Reference (NIH)ELAPOR1
Genomic and cartography
GoldenPath hg38 (UCSC)ELAPOR1  -  
GoldenPath hg19 (UCSC)ELAPOR1  -  
GoldenPathELAPOR1 - [CytoView hg19]  ELAPOR1 - [CytoView hg38]
ImmunoBaseENSG00000116299
Genome Data Viewer NCBIELAPOR1 [Mapview hg19]  
OMIM611298   
Gene and transcription
Genbank (Entrez)AB037745 AI923722 AJ512825 AJ512826 AK026832
RefSeq transcript (Entrez)NM_001267048 NM_001267049 NM_001284352 NM_001284353 NM_020775
Consensus coding sequences : CCDS (NCBI)ELAPOR1
Gene ExpressionELAPOR1 [ NCBI-GEO ]   ELAPOR1 [ EBI - ARRAY_EXPRESS ]   ELAPOR1 [ SEEK ]   ELAPOR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELAPOR1 [ Firebrowse - Broad ]
GenevisibleExpression of ELAPOR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57535
GTEX Portal (Tissue expression)ELAPOR1
Human Protein AtlasENSG00000116299-ELAPOR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXG2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXG2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXG2
PhosPhoSitePlusQ6UXG2
Domaine pattern : Prosite (Expaxy)MRH (PS51914)   
Domains : Interpro (EBI)EIG121-like    Growth_fac_rcpt_cys_sf    Tyr-kin_ephrin_A/B_rcpt-like   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)Ephrin_rec_like (SM01411)  
Conserved Domain (NCBI)ELAPOR1
SuperfamilyQ6UXG2
AlphaFold pdb e-kbQ6UXG2   
Human Protein Atlas [tissue]ENSG00000116299-ELAPOR1 [tissue]
HPRD13850
Protein Interaction databases
DIP (DOE-UCLA)Q6UXG2
IntAct (EBI)Q6UXG2
BioGRIDELAPOR1
STRING (EMBL)ELAPOR1
ZODIACELAPOR1
Ontologies - Pathways
QuickGOQ6UXG2
Ontology : AmiGOautophagosome assembly  autophagosome assembly  RNA binding  lysosome  lysosome  lysosomal membrane  late endosome  late endosome  endoplasmic reticulum membrane  trans-Golgi network  trans-Golgi network  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  cellular response to starvation  integral component of membrane  late endosome membrane  positive regulation of vacuole organization  positive regulation of vacuole organization  extracellular exosome  positive regulation of autophagosome assembly  
Ontology : EGO-EBIautophagosome assembly  autophagosome assembly  RNA binding  lysosome  lysosome  lysosomal membrane  late endosome  late endosome  endoplasmic reticulum membrane  trans-Golgi network  trans-Golgi network  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  cellular response to starvation  integral component of membrane  late endosome membrane  positive regulation of vacuole organization  positive regulation of vacuole organization  extracellular exosome  positive regulation of autophagosome assembly  
NDEx NetworkELAPOR1
Atlas of Cancer Signalling NetworkELAPOR1
Wikipedia pathwaysELAPOR1
Orthology - Evolution
OrthoDB57535
GeneTree (enSembl)ENSG00000116299
Phylogenetic Trees/Animal Genes : TreeFamELAPOR1
Homologs : HomoloGeneELAPOR1
Homology/Alignments : Family Browser (UCSC)ELAPOR1
Gene fusions - Rearrangements
Fusion : MitelmanGNAI3/KIAA1324 [1p13.3/1p13.3]  
Fusion : MitelmanSARS/KIAA1324 [1p13.3/1p13.3]  
Fusion : MitelmanTRAF3IP2/KIAA1324 [6q21/1p13.3]  
Fusion : QuiverELAPOR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELAPOR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELAPOR1
dbVarELAPOR1
ClinVarELAPOR1
MonarchELAPOR1
1000_GenomesELAPOR1 
Exome Variant ServerELAPOR1
GNOMAD BrowserENSG00000116299
Varsome BrowserELAPOR1
ACMGELAPOR1 variants
VarityQ6UXG2
Genomic Variants (DGV)ELAPOR1 [DGVbeta]
DECIPHERELAPOR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELAPOR1 
Mutations
ICGC Data PortalELAPOR1 
TCGA Data PortalELAPOR1 
Broad Tumor PortalELAPOR1
OASIS PortalELAPOR1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDELAPOR1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaELAPOR1
DgiDB (Drug Gene Interaction Database)ELAPOR1
DoCM (Curated mutations)ELAPOR1
CIViC (Clinical Interpretations of Variants in Cancer)ELAPOR1
Cancer3DELAPOR1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611298   
Orphanet
DisGeNETELAPOR1
MedgenELAPOR1
Genetic Testing Registry ELAPOR1
NextProtQ6UXG2 [Medical]
GENETestsELAPOR1
Target ValidationELAPOR1
Huge Navigator ELAPOR1 [HugePedia]
ClinGenELAPOR1
Clinical trials, drugs, therapy
MyCancerGenomeELAPOR1
Protein Interactions : CTDELAPOR1
Pharm GKB GenePA142671607
PharosQ6UXG2
Clinical trialELAPOR1
Miscellaneous
canSAR (ICR)ELAPOR1
HarmonizomeELAPOR1
DataMed IndexELAPOR1
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXELAPOR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:07:58 CEST 2021

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