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Protein Coding Gene : Diaph1 diaphanous related formin 1

Primary Identifier  MGI:1194490 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  13367
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables several functions, including profilin binding activity; small GTPase binding activity; and transmembrane transporter binding activity. Involved in actin filament polymerization; nervous system development; and synaptic vesicle endocytosis. Acts upstream of or within several processes, including ephrin receptor signaling pathway; multicellular organismal locomotion; and plasma membrane bounded cell projection organization. Located in several cellular components, including brush border; presynapse; and ruffle membrane. Is expressed in several structures, including brain; genitourinary system; gut; liver; and lung. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 1 and sensorineural hearing loss. Orthologous to human DIAPH1 (diaphanous related formin 1).
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth. [provided by MGI curators]
  • synonyms:
  • MGI:107220,
  • mDia1,
  • diaphanous related formin 1,
  • DNA segment, Chr 18, Wayne State University 154, expressed,
  • diaphanous homolog 1 (Drosophila),
  • MGD-MRK-35685,
  • Diap1,
  • Diaph1,
  • Drf1,
  • D18Wsu154e,
  • p140mDia,
  • Dia1

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

1 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

17 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For