REPS1
Sign in to saveAlso known as RALBP1, RALBP1 associated Eps domain containing 1, NBIA7
RalBP1-associated Eps domain-containing protein 1 is a protein that in humans is encoded by the REPS1 gene.
Gene data
REPS1- Name
- RALBP1 associated Eps domain containing 1
- Type
- protein-coding
- Position
- 138,902,982–138,988,356 (−)
- Aliases
- NBIA7
- Ensembl
- ENSG00000135597
- RefSeq RNA
- NM_001128617.3, NM_001286611.2, NM_001286612.2, NM_031922.5, XM_005267177.5
- RefSeq protein
- NP_001122089.1, NP_001273540.1, NP_001273541.1, NP_114128.3, XP_005267234.1
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-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
RALBP1 associated Eps domain containing 1
- Symbol
- REPS1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:138,902,982-138,988,356
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein REPS1 PDB 1fi6.png
Show 7 more facts
- HomoloGene ID
- 7515
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/85021
- genomic end
- 139309398
- genomic start
- 139224630
- chromosome
- human chromosome 6
- cytogenetic location
- 6q24.1
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
RalBP1-associated Eps domain-containing protein 1 is a protein that in humans is encoded by the REPS1 gene.
==References==
Excerpted from Wikipedia’s “REPS1” article, available under the CC BY-SA 4.0 licence.