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Macf1 Gene Detail
Summary
  • Symbol
    Macf1
  • Name
    microtubule-actin crosslinking factor 1
  • Synonyms
    Acf7, Aclp7, mKIAA0465, trabeculin alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:108559
    NCBI Gene: 11426
  • Alliance
    gene page
  • Transcription Start Sites
    55 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:123243426-123581331 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 57.42 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1382 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108559
 protein coding gene Chr4:123243386-123581594 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028741
 protein coding gene Chr4:124796090-125157622 (-)
A/J MGP_AJ_G0028700
 protein coding gene Chr4:119931131-120282563 (-)
AKR/J MGP_AKRJ_G0028653
 protein coding gene Chr4:123171649-123539461 (-)
BALB/cJ MGP_BALBcJ_G0028723
 protein coding gene Chr4:120496968-120838266 (-)
C3H/HeJ MGP_C3HHeJ_G0028438
 protein coding gene Chr4:123283805-123634768 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029164
 protein coding gene Chr4:129607215-129972934 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026437
 protein coding gene Chr4:113130039-113468805 (-)
CAST/EiJ MGP_CASTEiJ_G0027870
 protein coding gene Chr4:121301245-121660628 (-)
CBA/J MGP_CBAJ_G0028403
 protein coding gene Chr4:132905294-133267010 (-)
DBA/2J MGP_DBA2J_G0028552
 protein coding gene Chr4:120419493-120756194 (-)
FVB/NJ MGP_FVBNJ_G0028519
 protein coding gene Chr4:119044901-119384707 (-)
LP/J MGP_LPJ_G0028653
 protein coding gene Chr4:125073545-125432579 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028545
 protein coding gene Chr4:137835806-138219273 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029202
 protein coding gene Chr4:123541671-123911952 (-)
PWK/PhJ MGP_PWKPhJ_G0027590
 protein coding gene Chr4:116814577-117154352 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027417
 protein coding gene Chr4:119355830-119703542 (-)
WSB/EiJ MGP_WSBEiJ_G0027949
 protein coding gene Chr4:123612791-123974190 (-)



Homology
more
  • Human Ortholog
    MACF1, microtubule actin crosslinking factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MACF1, microtubule actin crosslinking factor 1
  • Synonyms
    ABP620, ACF7, KIAA0754, LIS9, Lnc-PMIF, MACF, OFC4
  • Links
    NCBI Gene ID: 23499
    neXtProt AC: NX_O94854, NX_Q9UPN3
    UniProt: O94854, Q9UPN3

  • Chr Location
    1p34.3; chr1:39081316-39487177 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MACF1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 4 alleles in 4 genetic backgrounds
    31 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 lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    67
  • GO References
    14
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
non-membrane-bounded 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
    1047
  • Tissues
    163
  • cDNA Data
    23
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028649 Ensembl Gene Model | MGI Sequence Detail 337906 C57BL/6J ±  kb
    transcript ENSMUST00000106224 Ensembl | MGI Sequence Detail 23408 Not Applicable  
    polypeptide ENSMUSP00000101831 Ensembl | MGI Sequence Detail 7355 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 1
      cDNA 24
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37603, MGI:2140716
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 21
      Gene Ontology 14
      Phenotypes 31
    • Earliest
      J:36985 Bernier G, et al., Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins. Genomics. 1996 Nov 15;38(1):19-29
    • Latest
      J:322318 Nakamura T, et al., Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder. Hum Mol Genet. 2021 Sep 15;30(19):1851-1862
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory