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Ift27 Gene Detail
Summary
  • Symbol
    Ift27
  • Name
    intraflagellar transport 27
  • Synonyms
    2600013G09Rik, Rabl4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914292
    NCBI Gene: 67042
Location & Maps
more
  • Sequence Map
    Chr15:78159465-78174108 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14644 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 36.92 cM, cytoband E2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    IFT27, intraflagellar transport 27
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IFT27, intraflagellar transport 27
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BBS19, RABL4, RAYL
  • Links
    NCBI Gene ID: 11020
    neXtProt AC: NX_Q9BW83

  • Chr Location
    22q13.1; chr22:36758202-36776133 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human IFT27 associations

Human Disease Mouse Models
       Bardet-Biedl Syndrome 19; BBS19   OMIM: 615996
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 2 alleles in 2 genetic backgrounds
    27 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.
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    9
  • Genomic Mutations
    3 involving Ift27
  • Incidental Mutations
Homozygous null mice die shortly after birth showing multiple structural birth defects, including heart, lung, skeletal, and brain abnormalities, associated with abnormal Hedgehog signaling. Hair follicle development is severely impaired but formation of the ciliary axoneme is normal.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000016637 Ensembl Gene Model | MGI Sequence Detail 14644 C57BL/6J ±  kb
transcript ENSMUST00000016781 Ensembl | MGI Sequence Detail 1012 Not Applicable  
polypeptide ENSMUSP00000016781 Ensembl | MGI Sequence Detail 186 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    173 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000029557 intraflagellar transport protein 27 homolog
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR001806 Small GTPase superfamily
    IPR005225 Small GTP-binding protein domain
Molecular
Reagents
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  • All nucleic 60
    cDNA 60

    Microarray probesets 4
References
more
  • Summaries
    All 34
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 9
    Phenotypes 27
  • 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:224085 Yang N, et al., Intraflagellar transport 27 is essential for hedgehog signaling but dispensable for ciliogenesis during hair follicle morphogenesis. Development. 2015 Jun 15;142(12):2194-202

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory