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Col4a1 Gene Detail
Summary
  • Symbol
    Col4a1
  • Name
    collagen, type IV, alpha 1
  • Synonyms
    alpha1(IV) collagen, Bru, Col4a-1, Del(8)44H, Del(8)Bru44H, Raw, Svc
  • Feature Type
    protein coding gene
  • IDs
    MGI:88454
    NCBI Gene: 12826
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:11248423-11362826 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 5.53 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3291 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88454
 protein coding gene Chr8:11248423-11362889 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033351
 protein coding gene Chr8:8402531-8518728 (-)
A/J MGP_AJ_G0033331
 protein coding gene Chr8:8109423-8224435 (-)
AKR/J MGP_AKRJ_G0033262
 protein coding gene Chr8:8352877-8469531 (-)
BALB/cJ MGP_BALBcJ_G0033332
 protein coding gene Chr8:8258662-8373070 (-)
C3H/HeJ MGP_C3HHeJ_G0033045
 protein coding gene Chr8:8521690-8642075 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033844
 protein coding gene Chr8:8745072-8867068 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030814
 protein coding gene Chr8:7641260-7757632 (-)
CAST/EiJ MGP_CASTEiJ_G0032367
 protein coding gene Chr8:8242892-8365664 (-)
CBA/J MGP_CBAJ_G0033018
 protein coding gene Chr8:9104964-9226379 (-)
DBA/2J MGP_DBA2J_G0033171
 protein coding gene Chr8:8098138-8213723 (-)
FVB/NJ MGP_FVBNJ_G0033120
 protein coding gene Chr8:8059036-8174778 (-)
LP/J MGP_LPJ_G0033265
 protein coding gene Chr8:8316258-8434976 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033154
 protein coding gene Chr8:9426537-9550433 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033861
 protein coding gene Chr8:8374114-8488270 (-)
PWK/PhJ MGP_PWKPhJ_G0032080
 protein coding gene Chr8:8080428-8197551 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031922
 protein coding gene Chr8:8280856-8412360 (-)
WSB/EiJ MGP_WSBEiJ_G0032483
 protein coding gene Chr8:8399301-8517220 (-)



Homology
more
  • Human Ortholog
    COL4A1, collagen type IV alpha 1 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL4A1, collagen type IV alpha 1 chain
  • Synonyms
    BSVD, BSVD1, COL4A1s, PADMAL, RATOR
  • Links
    NCBI Gene ID: 1282
    neXtProt AC: NX_P02462
    UniProt: P02462

  • Chr Location
    13q34; chr13:110148963-110307202 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Col4a1 mouse models; 4 with human COL4A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    99 phenotypes from 14 alleles in 15 genetic backgrounds
    8 images
    49 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 with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    17
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
    1311
  • Tissues
    340
  • cDNA Data
    599
  • Literature Summary
    129
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031502 Ensembl Gene Model | MGI Sequence Detail 114404 C57BL/6J ±  kb
    transcript ENSMUST00000033898 Ensembl | MGI Sequence Detail 6615 Not Applicable  
    polypeptide ENSMUSP00000033898 Ensembl | MGI Sequence Detail 1669 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 625
      Genomic 9
      cDNA 600
      Primer pair 8
      Other 8

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1671, MGD-MRK-2066, MGD-MRK-2068, MGI:1890530, MGI:1890533, MGI:88206
    References
    more
    • Summaries
      All 257
      Developmental Gene Expression 129
      Diseases 4
      Gene Ontology 17
      Phenotypes 49
    • Earliest
      J:15727 Kurkinen M, et al., Isolation of cDNA clones for basal lamina components: type IV procollagen. Nucleic Acids Res. 1983 Sep 24;11(18):6199-209
    • Latest
      J:353621 Patel VN, et al., Specific 3-O-sulfated heparan sulfate domains regulate salivary gland basement membrane metabolism and epithelial differentiation. Nat Commun. 2024 Aug 31;15(1):7584
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory