QuickView for Col1A1 (gene)

Gene Symbol:

COL1A1 Homo sapiens

Full name:

collagen type I alpha 1 chain

Synonyms:

EDSARTH1, EDSC, OI1, OI2, OI3, OI4, collagen alpha-1(I) chain, alpha-1 type I collagen, alpha1(I) procollagen, collagen alpha 1 chain type I, collagen alpha-1(I) chain preproprotein, collagen of skin, tendon and bone, alpha-1 chain, collagen, type I, alpha 1, pro-alpha-1 collagen type 1, type I proalpha 1, type I procollagen alpha 1 chain

Genomic Location:

Chr 17: 45616456-45633999

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  TFIIA_Q6 ,  TGANTCA_AP1_C ,  SRF_Q6 ,  NFY_C ,  CTTTGCA_MIR527 ,  E2A_Q2 ,  MAF_Q6 ,  TAAWWATAG_RSRFC4_Q2 ,  COMP1_01 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  GCTTGAA_MIR498 ,  NFY_Q6_01 ,  ALPHACP1_01 ,  CAGGTG_E12_Q6 ,  CTACCTC_LET7A_LET7B_LET7C_LET7D_LET7E_LET7F_MIR98_LET7G_LET7I ,  TATA_C ,  ACTACCT_MIR196A_MIR196B ,  GGGCGGR_SP1_Q6 ,  NFY_01 ,  CCAWNWWNNNGGC_UNKNOWN ,  NFY_Q6 ,  TAATAAT_MIR126 ,  TAATTA_CHX10_01 ,  TTGTTT_FOXO4_01 ,  ATF1_Q6 ,  MYOGENIN_Q6 ,  WTTGKCTG_UNKNOWN ,  TATA_01 ,  SRF_Q5_01 ,  CTTTGT_LEF1_Q2 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  YNGTTNNNATT_UNKNOWN ,  AGGAAGC_MIR5163P ,  CP2_01 ,  GGGTGGRR_PAX4_03 ,  AAGCACA_MIR218 ,  MEF2_Q6_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for let-7 ,  Predicted Gene Targets for miR-150 ,  Predicted Gene Targets for miR-196 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-338 ,  Predicted Gene Targets for miR-29

miRNA binding sites
(Source: miRecords):

hsa-miR-29c Targeted Genes

Cytogenetic Map:

17q21.33

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