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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:63132246-63253228 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 33.96 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3551 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2672118
 protein coding gene Chr4:63132241-63253228 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028363
 protein coding gene Chr4:62220705-62344333 (+)
A/J MGP_AJ_G0028324
 protein coding gene Chr4:59971025-60092568 (+)
AKR/J MGP_AKRJ_G0028273
 protein coding gene Chr4:61613621-61733935 (+)
BALB/cJ MGP_BALBcJ_G0028344
 protein coding gene Chr4:60137262-60259599 (+)
C3H/HeJ MGP_C3HHeJ_G0028062
 protein coding gene Chr4:62129061-62255263 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028784
 protein coding gene Chr4:64353922-64475714 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026090
 protein coding gene Chr4:57306525-57426562 (+)
CAST/EiJ MGP_CASTEiJ_G0027498
 protein coding gene Chr4:60099847-60226229 (+)
CBA/J MGP_CBAJ_G0028029
 protein coding gene Chr4:66593449-66727972 (+)
DBA/2J MGP_DBA2J_G0028179
 protein coding gene Chr4:59826844-59948032 (+)
FVB/NJ MGP_FVBNJ_G0028144
 protein coding gene Chr4:59078257-59204351 (+)
LP/J MGP_LPJ_G0028276
 protein coding gene Chr4:62484973-62611988 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028171
 protein coding gene Chr4:69689692-69816451 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028820
 protein coding gene Chr4:61721661-61847353 (+)
PWK/PhJ MGP_PWKPhJ_G0027225
 protein coding gene Chr4:58317649-58441433 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027054
 protein coding gene Chr4:59182223-59300405 (+)
WSB/EiJ MGP_WSBEiJ_G0027578
 protein coding gene Chr4:61723438-61848432 (+)



Homology
more
  • Human Ortholog
    COL27A1, collagen type XXVII alpha 1 chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL27A1, collagen type XXVII alpha 1 chain
  • Synonyms
    STLS
  • Links
    NCBI Gene ID: 85301
    neXtProt AC: NX_Q8IZC6
    UniProt: Q8IZC6

  • Chr Location
    9q32; chr9:114154098-114312511 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 3 alleles in 3 genetic backgrounds
    7 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
less
  • All GO Annotations
    14
  • GO References
    6
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
    997
  • Tissues
    80
  • cDNA Data
    30
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 373864 NCBI Gene Model | MGI Sequence Detail 120983 C57BL/6J ±  kb
    transcript NM_025685 RefSeq | MGI Sequence Detail 7635 C57BL/6  
    polypeptide Q5QNQ9 UniProt | EBI | MGI Sequence Detail 1845 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 2
      cDNA 30
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1913902, MGI:2140286
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 7
      Gene Ontology 6
      Phenotypes 7
    • 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)
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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