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Actmap Gene Detail
Summary
  • Symbol
    Actmap
  • Name
    actin maturation protease
  • Synonyms
    BC024978
  • Feature Type
    protein coding gene
  • IDs
    MGI:3041247
    NCBI Gene: 414069
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:26895206-26909611 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 15.84 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    647 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3041247
 protein coding gene Chr7:26894973-26909611 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031902
 protein coding gene Chr7:25815032-25831333 (+)
A/J MGP_AJ_G0031881
 protein coding gene Chr7:25209644-25220512 (+)
AKR/J MGP_AKRJ_G0031811
 protein coding gene Chr7:25875104-25891005 (+)
BALB/cJ MGP_BALBcJ_G0031886
 protein coding gene Chr7:25433843-25441529 (+)
C3H/HeJ MGP_C3HHeJ_G0031608
 protein coding gene Chr7:26257217-26274109 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032351
 protein coding gene Chr7:26669820-26687486 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029403
 protein coding gene Chr7:26446788-26461248 (+)
CAST/EiJ MGP_CASTEiJ_G0030943
 protein coding gene Chr7:19556227-19572270 (+)
CBA/J MGP_CBAJ_G0031573
 protein coding gene Chr7:27838891-27865432 (+)
DBA/2J MGP_DBA2J_G0031725
 protein coding gene Chr7:25010432-25025065 (+)
FVB/NJ MGP_FVBNJ_G0031681
 protein coding gene Chr7:25093682-25110946 (+)
LP/J MGP_LPJ_G0031805
 protein coding gene Chr7:26159102-26174752 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031716
 protein coding gene Chr7:27448061-27458221 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032382
 protein coding gene Chr7:25406888-25416463 (+)
PWK/PhJ MGP_PWKPhJ_G0030667
 protein coding gene Chr7:20042399-20057086 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030501
 protein coding gene Chr7:16395525-16411887 (+)
WSB/EiJ MGP_WSBEiJ_G0031051
 protein coding gene Chr7:25697822-25712089 (+)



Homology
more
  • Human Ortholog
    ACTMAP, actin maturation protease
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACTMAP, actin maturation protease
  • Synonyms
    C19orf54
  • Links
    NCBI Gene ID: 284325
    UniProt: Q5BKX5

  • Chr Location
    19q13.2; chr19:40740856-40751553 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    6 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 a null allele exhibit decreased muscle strength and function, shorter skeletal muscle actin filaments, and centrally nucleated skeletal muscle fibers.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    3
  • GO References
    1
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

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
    706
  • cDNA Data
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000078786 Ensembl Gene Model | MGI Sequence Detail 14406 C57BL/6J ±  kb
    transcript ENSMUST00000179391 Ensembl | MGI Sequence Detail 1748 Not Applicable  
    polypeptide ENSMUSP00000137189 Ensembl | MGI Sequence Detail 361 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGI:7414076
    References
    more
    • Summaries
      All 22
      Gene Ontology 1
      Phenotypes 6
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • Latest
      J:331923 Haahr P, et al., Actin maturation requires the ACTMAP/C19orf54 protease. Science. 2022 Sep 30;377(6614):1533-1537
    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
    03/25/2025
    MGI 6.24     		The Jackson Laboratory