About   Help   FAQ
Diaph1 Gene Detail
Summary
  • Symbol
    Diaph1
  • Name
    diaphanous related formin 1
  • Synonyms
    D18Wsu154e, Dia1, Diap1, Drf1, mDia1, p140mDia
  • Feature Type
    protein coding gene
  • IDs
    MGI:1194490
    NCBI Gene: 13367
  • Gene Overview
    MyGene.info: DIAPH1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:37843601-37935476 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 19.71 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    495 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1194490
protein coding gene Chr18:37843601-37935634 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024354
protein coding gene Chr18:36261705-36357229 (-)
A/J MGP_AJ_G0024321
protein coding gene Chr18:35013522-35105253 (-)
AKR/J MGP_AKRJ_G0024290
protein coding gene Chr18:35974290-36068176 (-)
BALB/cJ MGP_BALBcJ_G0024321
protein coding gene Chr18:35079129-35171146 (-)
C3H/HeJ MGP_C3HHeJ_G0024087
protein coding gene Chr18:36040497-36134532 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024763
protein coding gene Chr18:37561430-37656748 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022202
protein coding gene Chr18:35030039-35125249 (-)
CAST/EiJ MGP_CASTEiJ_G0023562
protein coding gene Chr18:35979562-36075341 (-)
CBA/J MGP_CBAJ_G0024057
protein coding gene Chr18:38669663-38770940 (-)
DBA/2J MGP_DBA2J_G0024187
protein coding gene Chr18:34613060-34705054 (-)
FVB/NJ MGP_FVBNJ_G0024153
protein coding gene Chr18:34323311-34415846 (-)
LP/J MGP_LPJ_G0024271
protein coding gene Chr18:36323541-36422026 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024184
protein coding gene Chr18:39931093-40024093 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024812
protein coding gene Chr18:35838932-35933449 (-)
PWK/PhJ MGP_PWKPhJ_G0023306
protein coding gene Chr18:34820893-34914932 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023111
protein coding gene Chr18:36056075-36149915 (-)
WSB/EiJ MGP_WSBEiJ_G0023625
protein coding gene Chr18:35739582-35833457 (-)



Homology
more
  • Human Ortholog
    DIAPH1, diaphanous related formin 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    DIAPH1, diaphanous related formin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNA1, DIA1, DRF1, hDIA1, LFHL1, SCBMS
  • Links
    NCBI Gene ID: 1729
    neXtProt AC: NX_O60610
    UniProt: O60610

  • Chr Location
    5q31.3; chr5:141515021-141619055 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human DIAPH1 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
    44 phenotypes from 5 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    26 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024456 Ensembl Gene Model | MGI Sequence Detail 91876 C57BL/6J ±  kb
    transcript ENSMUST00000025337 Ensembl | MGI Sequence Detail 5596 Not Applicable  
    polypeptide ENSMUSP00000025337 Ensembl | MGI Sequence Detail 1264 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 129
      cDNA 127
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-35685, MGI:107220
    References
    more
    • Summaries
      All 96
      Developmental Gene Expression 7
      Gene Ontology 18
      Phenotypes 26
    • Earliest
      J:41124 Watanabe N, et al., p140mDia, a mammalian homolog of Drosophila diaphanous, is a target protein for Rho small GTPase and is a ligand for profilin. EMBO J. 1997 Jun 2;16(11):3044-56
    • Latest
      J:265706 Mei Y, et al., Age-related inflammatory bone marrow microenvironment induces ineffective erythropoiesis mimicking del(5q) MDS. Leukemia. 2018 Apr;32(4):1023-1033

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory