About   Help   FAQ
Col19a1 Gene Detail
Summary
  • Symbol
    Col19a1
  • Name
    collagen, type XIX, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1095415
    NCBI Gene: 12823
Location & Maps
more
  • Sequence Map
    Chr1:24261890-24587472 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      325583 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 9.99 cM, cytoband A3
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    COL19A1, collagen type XIX alpha 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COL19A1, collagen type XIX alpha 1
    Orthology source: HomoloGene
  • Synonyms
    COL9A1L, D6S228E
  • Links
    NCBI Gene ID: 1310
    neXtProt AC: NX_Q14993

  • Chr Location
    6q12-q13; chr6:69866556-70212454 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 1 genetic background
    6 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
    7
  • Chemically induced (other)
    1
  • Targeted
    6
  • Genomic Mutations
    1 involving Col19a1
  • Incidental Mutations
Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021418 VEGA Gene Model | MGI Sequence Detail 325583 C57BL/6J ±  kb
transcript OTTMUST00000050756 VEGA | MGI Sequence Detail 4266 Not Applicable  
polypeptide OTTMUSP00000023781 VEGA | MGI Sequence Detail 1136 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2842 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000005703 collagen alpha-1(XIX) chain
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR013320 Concanavalin A-like lectin/glucanase domain
    IPR001791 Laminin G domain
Molecular
Reagents
less
  • All nucleic 18
    Genomic 1
    cDNA 16
    Primer pair 1

    Microarray probesets 5
References
more
  • Summaries
    All 30
    Developmental Gene Expression 8
    Gene Ontology 2
    Phenotypes 6
  • Earliest
    J:41402 Sumiyoshi H, et al., Ubiquitous expression of the alpha1(XIX) collagen gene (Col19a1) during mouse embryogenesis becomes restricted to a few tissues in the adult organism. J Biol Chem. 1997 Jul 4;272(27):17104-11
  • Latest
    J:228853 Hoffmann AD, et al., Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation. PLoS Genet. 2014 Oct;10(10):e1004604

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/24/2016
MGI 6.04
The Jackson Laboratory