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Cthrc1 Gene Detail
Summary
  • Symbol
    Cthrc1
  • Name
    collagen triple helix repeat containing 1
  • Synonyms
    1110014B07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915838
    NCBI Gene: 68588
Location & Maps
more
  • Sequence Map
    Chr15:39076932-39087121 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10190 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 15.35 cM, cytoband C
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CTHRC1, collagen triple helix repeat containing 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CTHRC1, collagen triple helix repeat containing 1
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 115908
    neXtProt AC: NX_Q96CG8

  • Chr Location
    8q22.3; chr8:103371509-103383005 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CTHRC1 associations

Human Disease Mouse Models
       Barrett Esophagus   OMIM: 614266
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 6 alleles in 8 genetic backgrounds
    5 phenotypes from multigenic genotypes
    2 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    2
  • Targeted
    6
  • Transgenic
    2
  • Genomic Mutations
    2 involving Cthrc1
  • Incidental Mutations
Adult mice homozygous for a null allele exhibit decreased bone, decreased osteoblast number and decreased bone formation. Mice homozygous for a different knock-out allele exhibit increased hepatocyte size, decreased cell density in the liver, hepatic steatosis and increased glycogen storage.
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 OTTMUSG00000028035 VEGA Gene Model | MGI Sequence Detail 10190 C57BL/6J ±  kb
transcript OTTMUST00000069433 VEGA | MGI Sequence Detail 1164 Not Applicable  
polypeptide OTTMUSP00000035260 VEGA | MGI Sequence Detail 245 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    137 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000006005 collagen triple helix repeat-containing protein 1
Molecular
Reagents
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  • All nucleic 19
    cDNA 18
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 39
    Developmental Gene Expression 12
    Gene Ontology 6
    Phenotypes 13
  • 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:226941 Akerberg BN, et al., Endocardial Brg1 disruption illustrates the developmental origins of semilunar valve disease. Dev Biol. 2015 Nov 1;407(1):158-72

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
05/24/2016
MGI 6.04
The Jackson Laboratory