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Dnaaf1 Gene Detail
Summary
  • Symbol
    Dnaaf1
  • Name
    dynein, axonemal assembly factor 1
  • Synonyms
    4930457P18Rik, Lrrc50, m4Bei
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915520
    NCBI Gene: 68270
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:120301974-120325193 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 67.98 cM, cytoband E1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    621 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915520
 protein coding gene Chr8:120301974-120325193 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034186
 protein coding gene Chr8:122907461-122935495 (+)
A/J MGP_AJ_G0034166
 protein coding gene Chr8:117848984-117872081 (+)
AKR/J MGP_AKRJ_G0034093
 protein coding gene Chr8:121267438-121295403 (+)
BALB/cJ MGP_BALBcJ_G0034160
 protein coding gene Chr8:118052022-118076773 (+)
C3H/HeJ MGP_C3HHeJ_G0033871
 protein coding gene Chr8:121997319-122022741 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034680
 protein coding gene Chr8:127023461-127046652 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031622
 protein coding gene Chr8:110741089-110767995 (+)
CAST/EiJ MGP_CASTEiJ_G0033198
 protein coding gene Chr8:121938834-121965359 (+)
CBA/J MGP_CBAJ_G0033844
 protein coding gene Chr8:131638625-131668345 (+)
DBA/2J MGP_DBA2J_G0034000
 protein coding gene Chr8:117069837-117092787 (+)
FVB/NJ MGP_FVBNJ_G0033943
 protein coding gene Chr8:116098729-116124358 (+)
LP/J MGP_LPJ_G0034089
 protein coding gene Chr8:123048299-123077659 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033990
 protein coding gene Chr8:134086202-134111232 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034698
 protein coding gene Chr8:121419756-121447458 (+)
PWK/PhJ MGP_PWKPhJ_G0032900
 protein coding gene Chr8:116823248-116847039 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032740
 protein coding gene Chr8:120118703-120141668 (+)
WSB/EiJ MGP_WSBEiJ_G0033314
 protein coding gene Chr8:122140178-122164331 (+)



Homology
more
  • Human Ortholog
    DNAAF1, dynein axonemal assembly factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DNAAF1, dynein axonemal assembly factor 1
  • Synonyms
    CILD13, DAU1, LRRC50, ODA7, swt
  • Links
    NCBI Gene ID: 123872
    neXtProt AC: NX_Q8NEP3
    UniProt: Q8NEP3

  • Chr Location
    16q24.1; chr16:84145287-84178767 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DNAAF1 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
    3 phenotypes from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    9 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 an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    4
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
membraneless 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
    739
  • Tissues
    21
  • cDNA Data
    6
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68270 NCBI Gene Model | MGI Sequence Detail 23220 C57BL/6J ±  kb
    transcript NM_026648 RefSeq | MGI Sequence Detail 2821 C57BL/6  
    polypeptide Q9D2H9 UniProt | EBI | MGI Sequence Detail 634 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000009938 leucine-rich repeat-containing protein 50
      (term hierarchy)
    • InterPro Domains
      IPR050576 Ciliary and flagellar integrity-associated protein
      IPR001611 Leucine-rich repeat
      IPR032675 Leucine-rich repeat domain superfamily
    • GlyGen
      Q9D2H9 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 6
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:5505437
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 4
      Gene Ontology 4
      Phenotypes 9
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory