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Efcc1 Gene Detail
Summary
  • Symbol
    Efcc1
  • Name
    EF hand and coiled-coil domain containing 1
  • Synonyms
    AB041550, Ccdc48
  • Feature Type
    protein coding gene
  • IDs
    MGI:3611451
    NCBI Gene: 58229
  • Gene Overview
    MyGene.info: EFCC1
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:87730869-87755908 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 39.02 cM, cytoband D2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    151 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3611451
protein coding gene Chr6:87730820-87762423 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030996
protein coding gene Chr6:89091968-89117823 (+)
A/J MGP_AJ_G0030962
protein coding gene Chr6:85652235-85677467 (+)
AKR/J MGP_AKRJ_G0030893
protein coding gene Chr6:88130792-88157557 (+)
BALB/cJ MGP_BALBcJ_G0030975
protein coding gene Chr6:85649998-85677105 (+)
C3H/HeJ MGP_C3HHeJ_G0030735
protein coding gene Chr6:96316924-96342060 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031432
protein coding gene Chr6:91476281-91509112 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028616
protein coding gene Chr6:83828935-83832081 (+)
CAST/EiJ MGP_CASTEiJ_G0030084
protein coding gene Chr6:88215945-88241049 (+)
CBA/J MGP_CBAJ_G0030659
protein coding gene Chr6:95021366-95049116 (+)
DBA/2J MGP_DBA2J_G0030815
protein coding gene Chr6:84953849-84978860 (+)
FVB/NJ MGP_FVBNJ_G0030768
protein coding gene Chr6:84139980-84165420 (+)
LP/J MGP_LPJ_G0030892
protein coding gene Chr6:89110892-89137427 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030801
protein coding gene Chr6:99157842-99182882 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031459
protein coding gene Chr6:87979748-88010844 (+)
PWK/PhJ MGP_PWKPhJ_G0029799
protein coding gene Chr6:83922249-83948257 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029627
protein coding gene Chr6:86799441-86827467 (+)
WSB/EiJ MGP_WSBEiJ_G0030165
protein coding gene Chr6:88437827-88463225 (+)



Homology
more
  • Human Ortholog
    EFCC1, EF-hand and coiled-coil domain containing 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    EFCC1, EF-hand and coiled-coil domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C3orf73, CCDC48
  • Links
    NCBI Gene ID: 79825
    neXtProt AC: NX_Q9HA90
    UniProt: Q9HA90

  • Chr Location
    3q21.3; chr3:129001604-129040742 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotype references
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000068263 Ensembl Gene Model | MGI Sequence Detail 25040 C57BL/6J ±  kb
transcript ENSMUST00000032132 Ensembl | MGI Sequence Detail 2729 Not Applicable  
polypeptide ENSMUSP00000032132 Ensembl | MGI Sequence Detail 559 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 6
    Genomic 2
    cDNA 4
Other
Accession IDs
less
MGI:1931020
References
more
  • Summaries
    All 19
    Gene Ontology 2
    Phenotypes 2
  • Earliest
    J:87486 Akeson EC, Chromosomal inversion discovered in C3H/HeJ mice. JAX Notes. 2003;491:15
  • Latest
    J:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory