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REPS1 (RALBP1 associated Eps domain containing 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85021
Gene nameGene Name - the full gene name approved by the HGNC.
RALBP1 associated Eps domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
REPS1
SynonymsGene synonyms aliases
NBIA7, RALBP1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-dom
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs201191394 G>T Pathogenic Coding sequence variant, missense variant
rs1554292444 C>G Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT052479 hsa-let-7a-5p CLASH 23622248
MIRT052248 hsa-let-7b-5p CLASH 23622248
MIRT041596 hsa-miR-193b-3p CLASH 23622248
MIRT038049 hsa-miR-423-5p CLASH 23622248
MIRT615462 hsa-miR-181a-2-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 20946875, 23211419, 23414517, 31980649, 32203420
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96D71
Protein name RalBP1-associated Eps domain-containing protein 1 (RalBP1-interacting protein 1)
Protein function May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12763 EF-hand_4
278 → 373
Cytoskeletal-regulatory complex EF hand
 Family
Sequence 
MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATR
LGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDS
ENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRK
HSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTS
TLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDL
NGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLP
EKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQ
WETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNP
TSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQIGSNVTRQRSHSGTS
PDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPA
VHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEK
ASDPASSLRVAKTDSKTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEH
TQKTGVLAAVLASQPSIPRSVGKDKKAIQASIRRNKETNTVLARLNSELQQQLKDVLEER
ISLEVQLEQLRPFSHL
Sequence length 796
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Nephropathy with pretibial epidermolysis bullosa and deafness NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 rs121908681, rs587784343, rs587784353, rs121908685, rs121908686, rs200075782, rs587784350, rs149712244, rs535486098, rs587784330, rs797045888, rs1555978219, rs1554292444, rs1569243771 29395073
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Cerebellar atrophy Cerebellar atrophy
Cerebral atrophy Cerebral atrophy
Dysarthria Dysarthria
Dysphagia Deglutition Disorders

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