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Ofd1 Gene Detail
Summary
  • Symbol
    Ofd1
  • Name
    OFD1, centriole and centriolar satellite protein
  • Synonyms
    DXGgc7e, oral-facial-digital syndrome 1 gene homolog (human), ORF2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1350328
    NCBI Gene: 237222
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:165173029-165223700 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 77.28 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1026 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_1350328
 protein coding gene ChrX:165171503-165223704 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036265
 protein coding gene ChrX:164521201-164565704 (-)
A/J MGP_AJ_G0036233
 protein coding gene ChrX:163661978-163713109 (-)
AKR/J MGP_AKRJ_G0036163
 protein coding gene ChrX:168921729-168971925 (-)
BALB/cJ MGP_BALBcJ_G0036228
 protein coding gene ChrX:161650179-161710103 (-)
C3H/HeJ MGP_C3HHeJ_G0035935
 protein coding gene ChrX:164836309-164885474 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036751
 protein coding gene ChrX:169316936-169367043 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033571
 protein coding gene ChrX:154537930-154587130 (-)
CAST/EiJ MGP_CASTEiJ_G0035222
 protein coding gene ChrX:143717221-143765681 (-)
CBA/J MGP_CBAJ_G0035909
 protein coding gene ChrX:174256283-174310695 (-)
DBA/2J MGP_DBA2J_G0036075
 protein coding gene ChrX:162504004-162552859 (-)
FVB/NJ MGP_FVBNJ_G0036007
 protein coding gene ChrX:161623251-161675341 (-)
LP/J MGP_LPJ_G0036160
 protein coding gene ChrX:165638872-165692548 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0036039
 protein coding gene ChrX:182977992-183023095 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036790
 protein coding gene ChrX:163998827-164055554 (-)
PWK/PhJ MGP_PWKPhJ_G0034921
 protein coding gene ChrX:140474628-140518770 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034741
 protein coding gene ChrX:144239535-144291901 (-)
WSB/EiJ MGP_WSBEiJ_G0035358
 protein coding gene ChrX:161839780-161887293 (-)



Homology
more
  • Human Ortholog
    OFD1, OFD1 centriole and centriolar satellite protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OFD1, OFD1 centriole and centriolar satellite protein
  • Synonyms
    71-7A, CXorf5, JBTS10, RP23, SGBS2
  • Links
    NCBI Gene ID: 8481
    neXtProt AC: NX_O75665
    UniProt: O75665

  • Chr Location
    Xp22.2; chrX:13714505-13777955 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ofd1 mouse models; 5 with human OFD1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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.
Hemizygous conditional deletion of this gene results in embryonic lethality during organogenesis, impaired left-right axis patterning, and malformation of Henson's node cells. Heterozygous conditional deletion of this gene results in neonatal lethality, cystic kidneys, polydactyly, and cleft palate.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • 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
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
    802
  • Tissues
    75
  • cDNA Data
    30
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040586 Ensembl Gene Model | MGI Sequence Detail 50672 C57BL/6J ±  kb
    transcript ENSMUST00000049501 Ensembl | MGI Sequence Detail 4453 Not Applicable  
    polypeptide ENSMUSP00000041744 Ensembl | MGI Sequence Detail 1019 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 30
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1096319
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 14
      Phenotypes 15
    • Earliest
      J:49565 de Conciliis L, et al., Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 1998 Jul 15;51(2):243-50
    • Latest
      J:284130 Okuhara S, et al., Temporospatial sonic hedgehog signalling is essential for neural crest-dependent patterning of the intrinsic tongue musculature. Development. 2019 Nov 12;146(21):dev180075
    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)
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    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