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Efcab1 Gene Detail
Summary
  • Symbol
    Efcab1
  • Name
    EF-hand calcium binding domain 1
  • Synonyms
    4930449A16Rik, 5430404L10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914043
    NCBI Gene: 66793
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:14906224-14969061 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.09 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    301 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914043
protein coding gene Chr16:14906224-14981371 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022549
protein coding gene Chr16:11986981-12004690 (+)
A/J MGP_AJ_G0022511
protein coding gene Chr16:11298090-11316060 (+)
AKR/J MGP_AKRJ_G0022487
protein coding gene Chr16:11790904-11810223 (+)
BALB/cJ MGP_BALBcJ_G0022515
protein coding gene Chr16:11462127-11483054 (+)
C3H/HeJ MGP_C3HHeJ_G0022282
protein coding gene Chr16:11877515-11895205 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022964
protein coding gene Chr16:12158392-12176150 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020484
protein coding gene Chr16:11459764-11480854 (+)
CAST/EiJ MGP_CASTEiJ_G0021809
protein coding gene Chr16:11880482-11898597 (+)
CBA/J MGP_CBAJ_G0022251
protein coding gene Chr16:12669019-12688778 (+)
DBA/2J MGP_DBA2J_G0022382
protein coding gene Chr16:11274328-11292186 (+)
FVB/NJ MGP_FVBNJ_G0022358
protein coding gene Chr16:11314716-11332626 (+)
LP/J MGP_LPJ_G0022450
protein coding gene Chr16:11847753-11866061 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022380
protein coding gene Chr16:12319456-12337591 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022977
protein coding gene Chr16:11745284-11771503 (+)
PWK/PhJ MGP_PWKPhJ_G0021551
protein coding gene Chr16:11522134-11541540 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021380
protein coding gene Chr16:11710239-11727382 (+)
WSB/EiJ MGP_WSBEiJ_G0021857
protein coding gene Chr16:11758138-11777071 (+)



Homology
more
  • Human Ortholog
    EFCAB1, EF-hand calcium binding domain 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EFCAB1, EF-hand calcium binding domain 1
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 79645
    neXtProt AC: NX_Q9HAE3
    UniProt: Q9HAE3

  • Chr Location
    8q11.21; chr8:48714915-48735843 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 11608
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EFCAB1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 1 allele in 1 genetic background
    4 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a knock-out allele show partial lethality during fetal growth and development, hydrocephaly, situs inversus, enlarged brain ventricles, cardiac hypertrophy, reduced motility and fluid flows in sperm flagella and epithelial cilia, and defects in nodal cilia formation and motility.
Gene Ontology
(GO)
Classifications
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  • 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66793 NCBI Gene Model | MGI Sequence Detail 62838 C57BL/6J ±  kb
    transcript NM_025769 RefSeq | MGI Sequence Detail 1128 C57BL/6  
    polypeptide Q9D3N2 UniProt | EBI | MGI Sequence Detail 212 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1921909
    References
    more
    • Summaries
      All 28
      Developmental Gene Expression 3
      Gene Ontology 2
      Phenotypes 4
    • 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:278278 Sasaki K, et al., Calaxin is required for cilia-driven determination of vertebrate laterality. Commun Biol. 2019;2:226

    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)
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    Funding Information
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    last database update
    06/30/2020
    MGI 6.15
    The Jackson Laboratory