About   Help   FAQ
Erc1 Gene Detail
Summary
  • Symbol
    Erc1
  • Name
    ELKS/RAB6-interacting/CAST family member 1
  • Synonyms
    5033405M01Rik, 9630025C19Rik, B430107L16Rik, Elks1, mKIAA1081, Rab6ip2, RAB6IP2A, RAB6IP2B
  • Feature Type
    protein coding gene
  • IDs
    MGI:2151013
    NCBI Gene: 111173
  • Gene Overview
    MyGene.info: ERC1
Location & Maps
more
  • Sequence Map
    Chr6:119570796-119848167 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      277372 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 56.86 cM, cytoband F1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ERC1, ELKS/RAB6-interacting/CAST family member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ERC1, ELKS/RAB6-interacting/CAST family member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    Cast2, ELKS, ERC-1, RAB6IP2
  • Links
    NCBI Gene ID: 23085
    neXtProt AC: NX_Q8IUD2

  • Chr Location
    12p13.3; chr12:991208-1495933 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 14229
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ERC1
  • Protein SuperFamily
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044533 VEGA Gene Model | MGI Sequence Detail 277372 C57BL/6J ±  kb
transcript OTTMUST00000117204 VEGA | MGI Sequence Detail 8760 Not Applicable  
polypeptide OTTMUSP00000065550 VEGA | MGI Sequence Detail 1120 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1649 from dbSNP Build 142
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000007161 ELKS/Rab6-interacting/CAST family member 1
  • InterPro Domains
    IPR019323 Active zone protein ELKS
    IPR019018 Rab-binding domain FIP-RBD
Molecular
Reagents
less
  • All nucleic 13
    Genomic 1
    cDNA 12

    Microarray probesets 8
Other
Accession IDs
less
MGI:1925313, MGI:2442804, MGI:2443270
References
more
  • Summaries
    All 43
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 12
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:216293 Liu C, et al., The active zone protein family ELKS supports Ca2+ influx at nerve terminals of inhibitory hippocampal neurons. J Neurosci. 2014 Sep 10;34(37):12289-303

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory