About   Help   FAQ
Pef1 Gene Detail
Summary
  • Symbol
    Pef1
  • Name
    penta-EF hand domain containing 1
  • Synonyms
    2600002E23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915148
    NCBI Gene: 67898
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:130001349-130021927 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 63.43 cM, cytoband D3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    357 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915148
 protein coding gene Chr4:129996351-130021928 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028843
 protein coding gene Chr4:132087410-132114916 (+)
A/J MGP_AJ_G0028802
 protein coding gene Chr4:126792120-126817691 (+)
AKR/J MGP_AKRJ_G0028755
 protein coding gene Chr4:130343513-130369056 (+)
BALB/cJ MGP_BALBcJ_G0028825
 protein coding gene Chr4:127404594-127430155 (+)
C3H/HeJ MGP_C3HHeJ_G0028539
 protein coding gene Chr4:130396866-130423225 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029267
 protein coding gene Chr4:137041938-137069066 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026539
 protein coding gene Chr4:119915236-119940653 (+)
CAST/EiJ MGP_CASTEiJ_G0027971
 protein coding gene Chr4:128607538-128633287 (+)
CBA/J MGP_CBAJ_G0028505
 protein coding gene Chr4:140516178-140545042 (+)
DBA/2J MGP_DBA2J_G0028654
 protein coding gene Chr4:127227450-127253036 (+)
FVB/NJ MGP_FVBNJ_G0028621
 protein coding gene Chr4:126014120-126040006 (+)
LP/J MGP_LPJ_G0028755
 protein coding gene Chr4:132412396-132442105 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028647
 protein coding gene Chr4:145227484-145255960 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029305
 protein coding gene Chr4:130707772-130734487 (+)
PWK/PhJ MGP_PWKPhJ_G0027693
 protein coding gene Chr4:123844499-123870032 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027519
 protein coding gene Chr4:126589996-126615558 (+)
WSB/EiJ MGP_WSBEiJ_G0028052
 protein coding gene Chr4:130856600-130882540 (+)



Homology
more
  • Human Ortholog
    PEF1, penta-EF-hand domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PEF1, penta-EF-hand domain containing 1
  • Synonyms
    ABP32, PEF1A
  • Links
    NCBI Gene ID: 553115
    neXtProt AC: NX_Q9UBV8
    UniProt: Q9UBV8

  • Chr Location
    1p35.2; chr1:31629866-31644896 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    6
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
    709
  • Tissues
    3
  • cDNA Data
    83
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 67898 NCBI Gene Model | MGI Sequence Detail 20579 C57BL/6J ±  kb
transcript NM_026441 RefSeq | MGI Sequence Detail 1551 C57BL/6  
polypeptide Q8BFY6 UniProt | EBI | MGI Sequence Detail 275 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 83
    cDNA 83

    Microarray probesets 3
References
more
  • Summaries
    All 39
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 15
  • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory