REPS1

RalBP1-associated Eps domain-containing protein 1 is a protein that in humans is encoded by the REPS1 gene.^[5]

AliasesREPS1, RALBP1, RALBP1 associated Eps domain containing 1, NBIA7

External IDsOMIM: 614825; MGI: 1196373; HomoloGene: 7515; GeneCards: REPS1; OMA:REPS1 - orthologs

Chr.Chromosome 6 (human)^[1]

End138,988,261 bp^[1]

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REPS1
Identifiers
Aliases	REPS1, RALBP1, RALBP1 associated Eps domain containing 1, NBIA7
External IDs	OMIM: 614825; MGI: 1196373; HomoloGene: 7515; GeneCards: REPS1; OMA:REPS1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q24.1 Start 138,903,493 bp[1] End 138,988,261 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 A3 Start 17,931,609 bp[2] End 18,000,903 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone right uterine tube parotid gland olfactory zone of nasal mucosa anterior pituitary ganglionic eminence right hemisphere of cerebellum Brodmann area 9 skin of abdomen right frontal lobe Top expressed in genital tubercle tail of embryo secondary oocyte zygote submandibular gland spermatocyte gastrula primary oocyte Rostral migratory stream seminal vesicula More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding SH3 domain binding protein binding metal ion binding Cellular component membrane plasma membrane clathrin-coated pit cytosol Biological process receptor-mediated endocytosis membrane organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 85021 19707 Ensembl ENSG00000135597 ENSMUSG00000019854 UniProt Q96D71 O54916 RefSeq (mRNA) NM_001128617 NM_001286611 NM_001286612 NM_031922 NM_001111065 NM_009048 RefSeq (protein) NP_001122089 NP_001273540 NP_001273541 NP_114128 NP_001104535 NP_033074 Location (UCSC) Chr 6: 138.9 – 138.99 Mb Chr 10: 17.93 – 18 Mb PubMed search [3] [4]
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