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Col27a1 Gene Detail
Summary
  • Symbol
    Col27a1
  • Name
    collagen, type XXVII, alpha 1
  • Synonyms
    5730512J02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2672118
    NCBI Gene: 373864
Location & Maps
more
  • Sequence Map
    Chr4:63214004-63334991 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      120988 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 33.96 cM, cytoband C1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    COL27A1, collagen type XXVII alpha 1 chain
  • Vertebrate Orthologs
    8
  • Human Ortholog
    COL27A1, collagen type XXVII alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    STLS
  • Links
    NCBI Gene ID: 85301
    neXtProt AC: NX_Q8IZC6

  • Chr Location
    9q32; chr9:114130331-114312516 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human COL27A1 associations

Human Disease Mouse Models
       Steel Syndrome; STLS   OMIM: 615155
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    3 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 in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia.
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 OTTMUSG00000000244 VEGA Gene Model | MGI Sequence Detail 120988 C57BL/6J ±  kb
transcript OTTMUST00000000701 VEGA | MGI Sequence Detail 7612 Not Applicable  
polypeptide OTTMUSP00000000312 VEGA | MGI Sequence Detail 1845 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1088 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005710 collagen alpha-1(XXVII) chain
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR013320 Concanavalin A-like lectin/glucanase domain
    IPR000885 Fibrillar collagen, C-terminal
    IPR001791 Laminin G domain
Molecular
Reagents
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  • All nucleic 33
    Genomic 1
    cDNA 29
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGI:1913902, MGI:2140286
References
more
  • Summaries
    All 30
    Developmental Gene Expression 7
    Gene Ontology 3
    Phenotypes 3
  • 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:182341 Plumb DA, et al., Collagen XXVII organises the pericellular matrix in the growth plate. PLoS One. 2011;6(12):e29422

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