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Reps1 Gene Detail
Summary
  • Symbol
    Reps1
  • Name
    RalBP1 associated Eps domain containing protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196373
    NCBI Gene: 19707
  • Alliance
    genome feature page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:17931609-18000903 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 7.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1692 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196373
 protein coding gene Chr10:17931301-18000903 (+)
129S1/SvImJ ENSMUSG00200008976
 protein coding gene Chr10:14936342-15005670 (+)
A/J ENSMUSG00195006496
 protein coding gene Chr10:14948344-15017750 (+)
AKR/J ENSMUSG00220009771
 protein coding gene Chr10:14858393-14927520 (+)
BALB/cJ ENSMUSG00180014568
 protein coding gene Chr10:15072683-15142083 (+)
C3H/HeJ ENSMUSG00175020150
 protein coding gene Chr10:15092539-15161947 (+)
C57BL/6NJ ENSMUSG00215003388
 protein coding gene Chr10:14882435-14951741 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015138
 protein coding gene Chr10:14020817-14091311 (+)
CAST/EiJ ENSTCUG00005028304
 protein coding gene Chr10:14843255-14914752 (+)
CBA/J ENSMUSG00210015228
 protein coding gene Chr10:15030160-15099575 (+)
DBA/2J ENSMUSG00185006738
 protein coding gene Chr10:15014717-15084120 (+)
FVB/NJ ENSMUSG00205015790
 protein coding gene Chr10:14918562-14987937 (+)
JF1/MsJ ENSUMUG00000009097
 protein coding gene Chr10:15075668-15145567 (+)
LP/J ENSMUSG00230017385
 protein coding gene Chr10:16671188-16740580 (+)
NOD/ShiLtJ ENSMUSG00190010338
 protein coding gene Chr10:15000348-15069653 (+)
NZO/HlLtJ ENSMUSG00225029901
 protein coding gene Chr10:21141358-21210660 (+)
PWK/PhJ ENSLUMG00010014727
 protein coding gene Chr10:14788695-14858323 (+)
SPRET/EiJ ENSMSPG00010010651
 protein coding gene Chr10:15434395-15505411 (+)
WSB/EiJ ENSIUOG00005022677
 protein coding gene Chr10:14599536-14669099 (+)



Homology
more
  • Human Ortholog
    REPS1, RALBP1 associated Eps domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    REPS1, RALBP1 associated Eps domain containing 1
  • Synonyms
    NBIA7
  • Links
    NCBI Gene ID: 85021
    UniProt: Q96D71

  • Chr Location
    6q24.1; chr6:138903493-138988354 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human REPS1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    651
  • Tissues
    7
  • cDNA Data
    84
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019854 Ensembl Gene Model | MGI Sequence Detail 69295 C57BL/6J ±  kb
transcript ENSMUST00000126390 Ensembl | MGI Sequence Detail 2595 Not Applicable  
polypeptide ENSMUSP00000123238 Ensembl | MGI Sequence Detail 795 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 85
    cDNA 85

    Microarray probesets 4
Other
Accession IDs
less
MGI:2143517, MGI:2143899
References
more
  • Summaries
    All 42
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 13
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:385286 McLelland GL, et al., Mfn2 ubiquitination by PINK1/parkin gates the p97-dependent release of ER from mitochondria to drive mitophagy. Elife. 2018 Apr 20;7
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory