Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
58513
Gene name Gene Name - the full gene name approved by the HGNC.
Epidermal growth factor receptor pathway substrate 15 like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPS15L1
Synonyms (NCBI Gene) Gene synonyms aliases
EPS15R
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT514105 hsa-miR-3609 PAR-CLIP 20371350
MIRT514106 hsa-miR-548ah-5p PAR-CLIP 20371350
MIRT514104 hsa-miR-106a-5p PAR-CLIP 20371350
MIRT514103 hsa-miR-106b-5p PAR-CLIP 20371350
MIRT514102 hsa-miR-17-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16159959, 18200045, 19262564, 25416956, 32203420, 32296183, 33961781, 35271311, 35914814
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616826 24634 ENSG00000127527
Protein
UniProt ID Q9UBC2
Protein name Epidermal growth factor receptor substrate 15-like 1 (Eps15-related protein) (Eps15R)
Protein function Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12763 EF-hand_4 17 93 Cytoskeletal-regulatory complex EF hand Family
PF12763 EF-hand_4 122 218 Cytoskeletal-regulatory complex EF hand Family
PF12763 EF-hand_4 273 365 Cytoskeletal-regulatory complex EF hand Family
Sequence
MAAPLIPLSQQIPTGNSLYESYYKQVDPAYTGRVGASEAALFLKKSGLSDIILGKIWDLA
DPEGKGFLDKQGFYVALRLVACAQSGHEVTLSN
LNLSMPPPKFHDTSSPLMVTPPSAEAH
WAVRVEEKAKFDGIFESLLPINGLLSGDKVKPVLMNSKLPLDVLGRVWDLSDIDKDGHLD
RDEFAVAMHLVYRALEKEPVPSALPPSLIPPSKRKKTV
FPGAVPVLPASPPPKDSLRSTP
SHGSVSSLNSTGSLSPKHSLKQTQPTVNWVVPVADKMRFDEIFLKTDLDLDGYVSGQEVK
EIFMHSGLTQNLLAHIWALADTRQTGKLSKDQFALAMYFIQQKVSKGIDPPQVLSPDMVP
PSERG
TPGPDSSGSLGSGEFTGVKELDDISQEIAQLQREKYSLEQDIREKEEAIRQKTSE
VQELQNDLDRETSSLQELEAQKQDAQDRLDEMDQQKAKLRDMLSDVRQKCQDETQMISSL
KTQIQSQESDLKSQEDDLNRAKSELNRLQQEETQLEQSIQAGRVQLETIIKSLKSTQDEI
NQARSKLSQLHESRQEAHRSLEQYDQVLDGAHGASLTDLANLSEGVSLAERGSFGAMDDP
FKNKALLFSNNTQELHPDPFQTEDPFKSDPFKGADPFKGDPFQNDPFAEQQTTSTDPFGG
DPFKESDPFRGSATDDFFKKQTKNDPFTSDPFTKNPSLPSKLDPFESSDPFSSSSVSSKG
SDPFGTLDPFGSGSFNSAEGFADFSQMSKPPPSGPFTSSLGGAGFSDDPFKSKQDTPALP
PKKPAPPRPKPPSGKSTPVSQLGSADFPEAPDPFQPLGADSGDPFQSKKGFGDPFSGKDP
FVPSSAAKPSKASASGFADFTSVS
Sequence length 864
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis   EGFR downregulation
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Split-Hand-Foot Malformation split hand-foot malformation N/A N/A GenCC
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 33275145, 36366450