GediPNet logo

EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80820
Gene nameGene Name - the full gene name approved by the HGNC.
Endonuclease/exonuclease/phosphatase family domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EEPD1
SynonymsGene synonyms aliases
HSPC107
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.2
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT485633 hsa-miR-216b-3p PAR-CLIP 23592263
MIRT485632 hsa-miR-939-3p PAR-CLIP 23592263
MIRT485630 hsa-miR-6852-5p PAR-CLIP 23592263
MIRT485631 hsa-miR-6742-3p PAR-CLIP 23592263
MIRT485629 hsa-miR-8064 PAR-CLIP 23592263
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0006281 Process DNA repair IEA
GO:0010875 Process Positive regulation of cholesterol efflux IMP 28082258
GO:0046658 Component Anchored component of plasma membrane IMP 28082258
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q7L9B9
Protein name Endonuclease/exonuclease/phosphatase family domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12836 HHH_3
35 99
Domain
PF12836 HHH_3
134 196
Domain
Sequence
MGSTLGCHRSIPRDPSDLSHSRKFSAACNFSNILVNQERLNINTATEEELMTLPGVTRAV
ARSIVEYREYIGGFKKVEDLALVSGVGATKLEQVKFEIC
VSSKGSSAQHSPSSLRRDLLA
EQQPHHLATAVPLTPRVNINTATPAQLMSVRGLSEKMALSIVDFRREHGPFRSVEDLVRM
DGINAAFLDRIRHQVF
AERSRPPSTHTNGGLTFTAKPHPSPTSLSLQSEDLDLPPGGPTQ
IISTRPSVEAFGGTRDGRPVLRLATWNLQGCSVEKANNPGVREVVCMTLLENSIKLLAVQ
ELLDREALEKFCTELNQPTLPNIRKWKGPRGCWKAVVAEKPSSQLQKGAGYAGFLWDAAA
GMELRDAGSQESSPSNGHGKLAGPSPYLGRFKVGSHDLTLVNLHLAALTLLGSENPSKNH
SDGHRLASFAQTLQETLKGEKDVIILGDFGQGPDSNDYDILRKEKFHHLIPAHTFTNIST
KNPQGSKSLDNIWISKSLKKVFTGHWAVVREGLTNPWIPDNWSWGGVASEHCPVLAEFYT
EKDWSKKDAPRNGSGVALERSEANIKHER
Sequence length 569
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 30285260

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412