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Aliases for COL1A1 Gene

Aliases for COL1A1 Gene

  • Collagen Type I Alpha 1 2 3
  • Collagen, Type I, Alpha 1 2 3 5
  • Alpha-1 Type I Collagen 3 4
  • Collagen Of Skin, Tendon And Bone, Alpha-1 Chain 3
  • Collagen Alpha-1(I) Chain Preproprotein 3
  • Type I Procollagen Alpha 1 Chain 3
  • Collagen Alpha 1 Chain Type I 3
  • Pro-Alpha-1 Collagen Type 1 3
  • Alpha1(I) Procollagen 3
  • Type I Proalpha 1 3
  • EDSC 3
  • OI1 3
  • OI2 3
  • OI3 3
  • OI4 3

External Ids for COL1A1 Gene

Previous GeneCards Identifiers for COL1A1 Gene

  • GC17M047864
  • GC17M050742
  • GC17M048602
  • GC17M048736
  • GC17M045617
  • GC17M048260
  • GC17M043632

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 Osteogenesis Imperfecta, Type I. Among its related pathways are Platelet activation 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

Regulatory Elements for COL1A1 Gene

Enhancers for COL1A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COL1A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL1A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL1A1 Gene

Chromosome:
17
Start:
50,183,289 bp from pter
End:
50,201,648 bp from pter
Size:
18,360 bases
Orientation:
Minus strand

Genomic View for COL1A1 Gene

Genes around COL1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Lys 265, Thr 478, Lys 1108, Thr 1234, and Asn 1365
  • Modification sites at PhosphoSitePlus

Other Protein References for COL1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for COL1A1 (Collagen I alpha 1)

No data available for DME Specific Peptides for COL1A1 Gene

Domains & Families for COL1A1 Gene

Gene Families for COL1A1 Gene

Graphical View of Domain Structure for InterPro Entry

P02452

UniProtKB/Swiss-Prot:

CO1A1_HUMAN :
  • 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).
  • Belongs to the fibrillar collagen family.
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).
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 VWFC domain.
Family:
  • Belongs to the fibrillar collagen family.
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).
genes like me logo Genes that share phenotypes with COL1A1: view

Human Phenotype Ontology for COL1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL1A1 Gene

MGI Knock Outs for COL1A1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
extracellular 5
cytoskeleton 3
cytosol 3
nucleus 3
golgi apparatus 2
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005584 collagen type I trimer IEA,IMP 14976317
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with COL1A1: view

Pathways & Interactions for COL1A1 Gene

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

SIGNOR curated interactions for COL1A1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0001568 blood vessel development IEA,IMP 17211858
GO:0001649 osteoblast differentiation IEA --
GO:0001957 intramembranous ossification IEA --
GO:0001958 endochondral ossification IEA --
genes like me logo Genes that share ontologies with COL1A1: view

Drugs & Compounds for COL1A1 Gene

(22) Drugs for COL1A1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase Approved, Investigational Pharma Target 0
Somatropin recombinant Approved, Investigational Pharma 0
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 312
Halofuginone Investigational Pharma Target 5
calcium Nutra 0

(17) Additional Compounds for COL1A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for COL1A1 Gene

This gene is overexpressed in Amniocyte (36.6), Bone marrow stromal cell (6.9), and Urinary Bladder (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COL1A1: view

Protein tissue co-expression partners for COL1A1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for COL1A1 Gene

Orthologs for COL1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL1A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COL1A1 35
  • 93.6 (n)
  • 97.54 (a)
COL1A1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL1A1 35
  • 93.33 (n)
  • 97.81 (a)
COL1A1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col1a1 35
  • 89.58 (n)
  • 92.43 (a)
Col1a1 16
Col1a1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COL1A1 35
  • 99.45 (n)
  • 100 (a)
COL1A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col1a1 35
  • 90.16 (n)
  • 92.77 (a)
oppossum
(Monodelphis domestica)
Mammalia COL1A1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL1A1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 19 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia COL1A1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC496414 35
  • 79.57 (n)
  • 84.13 (a)
African clawed frog
(Xenopus laevis)
Amphibia col1a1-prov 35
zebrafish
(Danio rerio)
Actinopterygii col1a1 35
col1a1a 35
  • 75.84 (n)
  • 77.61 (a)
col1a1a 36
  • 79 (a)
OneToMany
col1a1b 36
  • 73 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11698 35
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 36
  • 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
rs8179178 - 50,198,002(-) TCAAG(A/G/T)GTCCC reference, missense
rs72667032 - 50,197,978(-) GTCCC(C/G)CTGGT reference, missense
VAR_001644 Osteogenesis imperfecta 1 (OI1)
VAR_001645 Osteogenesis imperfecta 1 (OI1)
VAR_001646 Osteogenesis imperfecta 1 (OI1)

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

Variation tolerance for COL1A1 Gene

Residual Variation Intolerance Score: 3.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL1A1 Gene

Human Gene Mutation Database (HGMD)
COL1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL1A1 Gene

Disorders for COL1A1 Gene

MalaCards: The human disease database

(52) MalaCards diseases for COL1A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
caffey disease
  • cortical congenital hyperostosis
osteogenesis imperfecta, type i
  • osteogenesis imperfecta type i
osteogenesis imperfecta, type ii
  • oi type ii
osteogenesis imperfecta, type iv
  • oi type iv
osteogenesis imperfecta, type iii
  • oi type iii
- elite association - COSMIC cancer census association via MalaCards

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 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.
  • Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. {ECO:0000269 PubMed:10739762, ECO:0000269 PubMed:17211858}. Note=The disease is caused by mutations 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.
  • 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:24682174, 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:25958000, 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.

Relevant External Links for COL1A1

Genetic Association Database (GAD)
COL1A1
Human Genome Epidemiology (HuGE) Navigator
COL1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL1A1
genes like me logo Genes that share disorders with COL1A1: view

No data available for Genatlas for COL1A1 Gene

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 48 67
  2. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. (PMID: 20015871) te Winkel M.L. … van den Heuvel-Eibrink M.M. (Haematologica 2010) 3 23
  3. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. (PMID: 18353721) Posthumus M. … Collins M. (J Sci Med Sport 2009) 3 23
  4. Study of the association between polymorphisms of the COL1A1 gene and HBV-related liver cirrhosis in Chinese patients. (PMID: 18536987) Zhao Y.P. … Gao C.F. (Dig. Dis. Sci. 2009) 3 23
  5. Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population. (PMID: 18836165) Nakanishi H. … Yoshimura N. (Invest. Ophthalmol. Vis. Sci. 2009) 3 23

Products for COL1A1 Gene

Sources for COL1A1 Gene

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