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Aliases for COL1A1 Gene

Aliases for COL1A1 Gene

  • Collagen, Type I, Alpha 1 2 3
  • Alpha-1 Type I Collagen 3 4
  • Collagen Of Skin, Tendon And Bone, Alpha-1 Chain 3
  • Collagen Alpha-1(I) Chain Preproprotein 3
  • Collagen Alpha 1 Chain Type I 3
  • Pro-Alpha-1 Collagen Type 1 3
  • Collagen Alpha-1(I) Chain 3
  • OI4 3

External Ids for COL1A1 Gene

Summaries for COL1A1 Gene

Entrez Gene Summary for COL1A1 Gene

  • This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

GeneCards Summary for COL1A1 Gene

COL1A1 (Collagen, Type I, Alpha 1) is a Protein Coding gene. Diseases associated with COL1A1 include caffey disease and ehlers-danlos syndrome classical type. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL1A1 Gene

  • Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Wiki entry for COL1A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL1A1 Gene

Genomics for COL1A1 Gene

Genomic Location for COL1A1 Gene

Start:
50,183,289 bp from pter
End:
50,201,642 bp from pter
Size:
18,354 bases
Orientation:
Minus strand

Genomic View for COL1A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL1A1 Gene

Regulatory Elements for COL1A1 Gene

Proteins for COL1A1 Gene

  • Protein details for COL1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02452-CO1A1_HUMAN
    Recommended name:
    Collagen alpha-1(I) chain
    Protein Accession:
    P02452
    Secondary Accessions:
    • O76045
    • P78441
    • Q13896
    • Q13902
    • Q13903
    • Q14037
    • Q14992
    • Q15176
    • Q15201
    • Q16050
    • Q59F64
    • Q7KZ30
    • Q7KZ34
    • Q8IVI5
    • Q8N473
    • Q9UML6
    • Q9UMM7

    Protein attributes for COL1A1 Gene

    Size:
    1464 amino acids
    Molecular mass:
    138941 Da
    Quaternary structure:
    • Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2.
    SequenceCaution:
    • Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL1A1 Gene

neXtProt entry for COL1A1 Gene

Proteomics data for COL1A1 Gene at MOPED

Post-translational modifications for COL1A1 Gene

  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
  • Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Lys265, Thr478, Lys1108, Thr1234, and Asn1365

Other Protein References for COL1A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL1A1 Gene

Domains for COL1A1 Gene

Gene Families for COL1A1 Gene

HGNC:

UniProtKB/Swiss-Prot:

CO1A1_HUMAN
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).:
    • P02452
  • Contains 1 fibrillar collagen NC1 domain.:
    • P02452
  • Contains 1 VWFC domain.:
    • P02452
Family:
  • Belongs to the fibrillar collagen family.:
    • P02452
genes like me logo Genes that share domains with COL1A1: view

Function for COL1A1 Gene

Molecular function for COL1A1 Gene

GENATLAS Biochemistry: collagen type I,alpha 1,fibril forming,putative downregulated c-Myc target gene,
UniProtKB/Swiss-Prot Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Ontology (GO) - Molecular Function for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 14749390
GO:0042802 identical protein binding IDA 17211858
GO:0046872 metal ion binding IEA --
GO:0048407 platelet-derived growth factor binding IDA 8900172
genes like me logo Genes that share ontologies with COL1A1: view
genes like me logo Genes that share phenotypes with COL1A1: view

Animal Models for COL1A1 Gene

MGI Knock Outs for COL1A1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL1A1 Gene

Localization for COL1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL1A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL1A1 Gene COMPARTMENTS Subcellular localization image for COL1A1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
nucleus 2
cytoskeleton 1
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix --
GO:0005581 collagen trimer --
GO:0005584 collagen type I trimer IMP 14976317
GO:0005615 extracellular space IDA 20551380
genes like me logo Genes that share ontologies with COL1A1: view

Pathways for COL1A1 Gene

genes like me logo Genes that share pathways with COL1A1: view

Gene Ontology (GO) - Biological Process for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 14976317
GO:0001503 ossification --
GO:0001568 blood vessel development IMP 17211858
GO:0001649 osteoblast differentiation IEA --
GO:0001957 intramembranous ossification IEA --
genes like me logo Genes that share ontologies with COL1A1: view

Compounds for COL1A1 Gene

(1) HMDB Compounds for COL1A1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for COL1A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Collagenase
9001-12-1 target

(34) Novoseek inferred chemical compound relationships for COL1A1 Gene

Compound -log(P) Hits PubMed IDs
procollagen 67.1 3
vitamin d 58.9 29
nppa 54.6 3
rsai 50.7 5
hydroxylysine 49.9 1
genes like me logo Genes that share compounds with COL1A1: view

Transcripts for COL1A1 Gene

Unigene Clusters for COL1A1 Gene

Collagen, type I, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL1A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1:
SP2: -
SP3:
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

ExUns: 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49a · 49b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - - - -
SP10:
SP11:
SP12:

Relevant External Links for COL1A1 Gene

GeneLoc Exon Structure for
COL1A1
ECgene alternative splicing isoforms for
COL1A1

Expression for COL1A1 Gene

mRNA expression in normal human tissues for COL1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL1A1 Gene

SOURCE GeneReport for Unigene cluster for COL1A1 Gene Hs.172928

mRNA Expression by UniProt/SwissProt for COL1A1 Gene

P02452-CO1A1_HUMAN
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite
genes like me logo Genes that share expressions with COL1A1: view

Orthologs for COL1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL1A1 36
  • 99.45 (n)
  • 100 (a)
COL1A1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL1A1 36
  • 93.6 (n)
  • 97.54 (a)
COL1A1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL1A1 36
  • 93.33 (n)
  • 97.81 (a)
COL1A1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col1a1 36
  • 89.58 (n)
  • 92.43 (a)
Col1a1 16
Col1a1 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL1A1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL1A1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col1a1 36
  • 90.16 (n)
  • 92.77 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 19 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia COL1A1 37
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia col1a1-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC496414 36
  • 79.57 (n)
  • 84.13 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11698 36
zebrafish
(Danio rerio)
Actinopterygii col1a1 36
col1a1a 36
  • 75.84 (n)
  • 77.61 (a)
col1a1a 37
  • 79 (a)
OneToMany
col1a1b 37
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 37
  • 54 (a)
OneToMany
Species with no ortholog for COL1A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL1A1 Gene

ENSEMBL:
Gene Tree for COL1A1 (if available)
TreeFam:
Gene Tree for COL1A1 (if available)

Paralogs for COL1A1 Gene

genes like me logo Genes that share paralogs with COL1A1: view

Variants for COL1A1 Gene

Sequence variations from dbSNP and Humsavar for COL1A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs10144 -- 50,185,445(-) ACCCG(G/T)AACAG utr-variant-3-prime
rs10407 -- 50,185,622(-) AAGAC(A/T)GTGAT reference, synonymous-codon
rs867184 -- 50,184,032(-) GGGGC(C/T)TTGGG downstream-variant-500B
rs909102 -- 50,184,005(-) CCATT(C/T)CTGCC downstream-variant-500B
rs1007085 -- 50,194,415(-) GGCCC(C/T)GCTGG synonymous-codon, reference, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL1A1 Gene

Variant ID Type Subtype PubMed ID
nsv908588 CNV Loss 21882294
dgv3225n71 CNV Loss 21882294
nsv908597 CNV Loss 21882294
esv2670012 CNV Deletion 23128226

Relevant External Links for COL1A1 Gene

HapMap Linkage Disequilibrium report
COL1A1
Human Gene Mutation Database (HGMD)
COL1A1
Locus Specific Mutation Databases (LSDB)
COL1A1

Disorders for COL1A1 Gene

(8) OMIM Diseases for COL1A1 Gene (120150)

UniProtKB/Swiss-Prot

CO1A1_HUMAN
  • Caffey disease (CAFFD) [MIM:114000]: Characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. {ECO:0000269 PubMed:15864348}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269 PubMed:10739762, ECO:0000269 PubMed:17211858}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome 7A (EDS7A) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. {ECO:0000269 PubMed:1634225, ECO:0000269 PubMed:16638323, ECO:0000269 PubMed:16705691, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:1718984, ECO:0000269 PubMed:1737847, ECO:0000269 PubMed:17875077, ECO:0000269 PubMed:18670065, ECO:0000269 PubMed:2794057, ECO:0000269 PubMed:3244312, ECO:0000269 PubMed:8223589}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. {ECO:0000269 PubMed:10627137, ECO:0000269 PubMed:1460047, ECO:0000269 PubMed:1511982, ECO:0000269 PubMed:1613761, ECO:0000269 PubMed:16566045, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:18670065, ECO:0000269 PubMed:1874719, ECO:0000269 PubMed:18996919, ECO:0000269 PubMed:1939261, ECO:0000269 PubMed:1953667, ECO:0000269 PubMed:2035536, ECO:0000269 PubMed:2036375, ECO:0000269 PubMed:2037280, ECO:0000269 PubMed:2116413, ECO:0000269 PubMed:2211725, ECO:0000269 PubMed:2339700, ECO:0000269 PubMed:2470760, ECO:0000269 PubMed:2777764, ECO:0000269 PubMed:2794057, ECO:0000269 PubMed:2913053, ECO:0000269 PubMed:3016737, ECO:0000269 PubMed:3108247, ECO:0000269 PubMed:3403550, ECO:0000269 PubMed:3667599, ECO:0000269 PubMed:7520724, ECO:0000269 PubMed:7679635, ECO:0000269 PubMed:7691343, ECO:0000269 PubMed:7961597, ECO:0000269 PubMed:8100209, ECO:0000269 PubMed:8349697, ECO:0000269 PubMed:8349698, ECO:0000269 PubMed:8364588, ECO:0000269 PubMed:8456808, ECO:0000269 PubMed:8786074, ECO:0000269 PubMed:9143923, ECO:0000269 Ref.47, ECO:0000269 Ref.50}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. {ECO:0000269 PubMed:10408781, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:1770532, ECO:0000269 PubMed:18670065, ECO:0000269 PubMed:2037280, ECO:0000269 PubMed:2511192, ECO:0000269 PubMed:2794057, ECO:0000269 PubMed:7691343, ECO:0000269 PubMed:7881420, ECO:0000269 PubMed:8019571, ECO:0000269 PubMed:8364588, ECO:0000269 PubMed:8456809, ECO:0000269 PubMed:8669434, ECO:0000269 PubMed:8723681, ECO:0000269 PubMed:9101304}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. {ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:1770532, ECO:0000269 PubMed:17875077, ECO:0000269 PubMed:1988452, ECO:0000269 PubMed:2745420, ECO:0000269 PubMed:7691343, ECO:0000269 PubMed:7982948, ECO:0000269 PubMed:8094076, ECO:0000269 PubMed:8339541, ECO:0000269 PubMed:9600458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269 PubMed:8841196, ECO:0000269 PubMed:9535665}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.

(36) Novoseek inferred disease relationships for COL1A1 Gene

Disease -log(P) Hits PubMed IDs
osteogenesis imperfecta 94.7 85
oi, type i 93.9 46
osteogenesis imperfecta, type ii 91.2 7
oi, type iv 88.3 2
oi, type iii 87.4 7

Relevant External Links for COL1A1

GeneTests
COL1A1
GeneReviews
COL1A1
Genetic Association Database (GAD)
COL1A1
Human Genome Epidemiology (HuGE) Navigator
COL1A1
genes like me logo Genes that share disorders with COL1A1: view

Publications for COL1A1 Gene

  1. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. (PMID: 8841196) Grant S.F.A. … Ralston S.H. (Nat. Genet. 1996) 3 4 23 49
  2. Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion. (PMID: 8223589) Valli M. … Cetta G. (Eur. J. Biochem. 1993) 3 4 23
  3. Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. (PMID: 8349697) Chessler S.D. … Byers P.H. (J. Biol. Chem. 1993) 3 4 23
  4. Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. (PMID: 8364588) Mottes M. … Pignatti P.F. (Hum. Mutat. 1993) 3 4 23
  5. A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. (PMID: 1511982) Bonaventure J. … Maroteaux P. (Hum. Genet. 1992) 3 4 23

Products for COL1A1 Gene

Sources for COL1A1 Gene

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