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Protein Coding Gene : Macf1 microtubule-actin crosslinking factor 1

Primary Identifier  MGI:108559 Organism  Mus musculus
Chromosome  4 NCBI Gene Number  11426
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.0)

Exhibits ATPase activity; actin binding activity; and microtubule binding activity. Involved in several processes, including posttranslational protein targeting to endoplasmic reticulum membrane; regulation of focal adhesion assembly; and regulation of neuron projection arborization. Localizes to cytoplasm; cytoskeleton; and postsynaptic density. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in lissencephaly. Is expressed in several structures, including central nervous system; genitourinary system; limb segment; lung; and skeletal musculature. Orthologous to human MACF1 (microtubule actin crosslinking factor 1).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • MGI:2140716,
  • Macf1,
  • MGD-MRK-37603,
  • microtubule-actin crosslinking factor 1,
  • mKIAA0465,
  • Aclp7,
  • trabeculin alpha,
  • Acf7,
  • expressed sequence R74989,
  • R74989,
  • actin-crosslinking protein 7

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

791 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications