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 name Gene Name - the full gene name approved by the HGNC.
RALBP1 associated Eps domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REPS1
Synonyms (NCBI Gene) Gene synonyms aliases
NBIA7, RALBP1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.1
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(102)
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
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 20946875, 23211419, 23414517, 25416956, 31980649, 32203420, 33961781, 35271311
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol IDA
Other IDs Other 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
614825 15578 ENSG00000135597
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in heart and testis. {ECO:0000269|PubMed:11750063}.
Sequence 
MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATR
LGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDS
ENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRK
HSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTS
TLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDL
NGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLP
EKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQ
WETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNP
TSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQIGSNVTRQRSHSGTS
PDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPA
VHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEK
ASDPASSLRVAKTDSKTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEH
TQKTGVLAAVLASQPSIPRSVGKDKKAIQASIRRNKETNTVLARLNSELQQQLKDVLEER
ISLEVQLEQLRPFSHL
Sequence length 796
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    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)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness neurodegeneration with brain iron accumulation 7 rs1554292444 N/A
Show/Hide Unknown Diseases (2)
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
Diabetes Diabetic kidney disease in type 2 diabetes (ESRD vs. no ESRD) N/A N/A GWAS
neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation N/A N/A ClinVar
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neuroferritinopathy Associate 35180557
Pantothenate Kinase Associated Neurodegeneration Associate 39419454