COL1A1 (collagen type I alpha 1 chain)

Gene Basic Information

Gene Basic Information

symbol:
COL1A1
locus group:
protein-coding gene
location:
17q21.33
gene_family:
Collagens
alias symbol:
OI4
alias name:
None
entrez id:
1277
ensembl gene id:
ENSG00000108821
ucsc gene id:
uc002iqm.4
refseq accession:
NM_000088
hgnc_id:
HGNC:2197
approved reserved:
2001-06-22

Chromosome Location

Chromosome Location

17q21.33

Gene Summary

Gene Summary

ChineseEnglish

This gene encodes the pro-alpha1 chain of type I collagen, a triple helix composed of two alpha1 chains and one alpha2 chain. Type I collagen 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 and the classic type, Caffey disease, and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the platelet-derived growth factor beta gene are located, are associated with a specific type of dermatofibrosarcoma protuberans resulting from unregulated expression of the growth factor. Two transcripts generated through alternative polyadenylation signals have been identified for this gene. Provided by R. Dalgleish, February 2008.

OMIM entry for COL1A1     Wikipedia entry for COL1A1

Gene Sequence

Gene Sequence

Nucleotide sequence of COL1A1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MFSFVDLRLL LLLAATALLT HGQEEGQVEG QDEDIPPITC
41VQNGLRYHDR DVWKPEPCRI CVCDNGKVLC DDVICDETKN
81 CPGAEVPEG ECCPVCPDGS ESPTDQETTG VEGPKGDTGP
121RGPRGPAGPP GRDGIPGQPG LPGPPGPPGP PGPPGLGGNF
161A PQLSYGYD EKSTGGISVP GPMGPSGPRG LPGPPGAPGP
201QGFQGPPGEP GEPGASGPMG PRGPPGPPGK NGDDGEAGKP
241GR PGERGPP GPQGARGLPG TAGLPGMKGH RGFSGLDGAK
281GDAGPAGPKG EPGSPGENGA PGQMGPRGLP GERGRPGAPG
321PAG ARGNDG ATGAAGPPGP TGPAGPPGFP GAVGAKGEAG
361PQGPRGSEGP QGVRGEPGPP GPAGAAGPAG NPGADGQPGA
401KGAN GAPGI AGAPGFPGAR GPSGPQGPGG PPGPKGNSGE
441PGAPGSKGDT GAKGEPGPVG VQGPPGPAGE EGKRGARGEP
481GPTGL PGPP GERGGPGSRG FPGADGVAGP KGPAGERGSP
521GPAGPKGSPG EAGRPGEAGL PGAKGLTGSP GSPGPDGKTG
561PPGPAG QDG RPGPPGPPGA RGQAGVMGFP GPKGAAGEPG
601KAGERGVPGP PGAVGPAGKD GEAGAQGPPG PAGPAGERGE
641QGPAGSP GF QGLPGPAGPP GEAGKPGEQG VPGDLGAPGP
681SGARGERGFP GERGVQGPPG PAGPRGANGA PGNDGAKGDA
721GAPGAPGS Q GAPGLQGMPG ERGAAGLPGP KGDRGDAGPK
761GADGSPGKDG VRGLTGPIGP PGPAGAPGDK GESGPSGPAG
801PTGARGAPG DRGEPGPPGP AGFAGPPGAD GQPGAKGEPG
841DAGAKGDAGP PGPAGPAGPP GPIGNVGAPG AKGARGSAGP
881PGATGFPGAA GRVGPPGPS GNAGPPGPPG PAGKEGGKGP
921RGETGPAGRP GEVGPPGPPG PAGEKGSPGA DGPAGAPGTP
961GPQGIAGQRG V VGLPGQRG ERGFPGLPGP SGEPGKQGPS
1001GASGERGPPG PMGPPGLAGP PGESGREGAP GAEGSPGRDG
1041SPGAKGDRGE TG PAGPPGA PGAPGAPGPV GPAGKSGDRG
1081ETGPAGPTGP VGPVGARGPA GPQGPRGDKG ETGEQGDRGI
1121KGHRGFSGLQ GPP GPPGSP GEQGPSGASG PAGPRGPPGS
1161AGAPGKDGLN GLPGPIGPPG PRGRTGDAGP VGPPGPPGPP
1201GPPGPPSAGF DFSF LPQPP QEKAHDGGRY YRADDANVVR
1241DRDLEVDTTL KSLSQQIENI RSPEGSRKNP ARTCRDLKMC
1281HSDWKSGEYW IDPNQ GCNL DAIKVFCNME TGETCVYPTQ
1321PSVAQKNWYI SKNPKDKRHV WFGESMTDGF QFEYGGQGSD
1361PADVAIQLTF LRLMST EAS QNITYHCKNS VAYMDQQTGN
1401LKKALLLQGS NEIEIRAEGN SRFTYSVTVD GCTSHTGAWG
1441KTVIEYKTTK TSRLPII DV APLDVGAPDQ EFGFDVGPVC
1481FL
结构预测来自 AlphaFold DB（UniProt: P02452），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of COL1A1:           Showing partial SNPs
rs10144       rs10407       rs867184       rs909102       rs1007085       rs1007086       rs1057297       rs1059454       rs1059475       rs1061237       rs1061947       rs1061970       rs1062135       rs1064882       rs1107946       rs1135348       rs1800012      

Gene Expression

Gene Expression

Tissue expression of COL1A1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CTCTTGGTTTGGTTGTCAGG
59
ATCATTTCCACGAGCACCA
60
CTTGGTTTGGTTGTCAGGG
59
CCATCATTTCCACGAGCAC
59
TACAGATGCAGACAGTGCC
60
GAAAGGGACAAACTGTCAGG
59
CTGTAATCCCAGCACTTTGG
59
GTCTCAAACTCCTGACCTC
57
AAAGATGGAGAGGCTGGAG
59
ATCACCCTTAGCACCATCG
60
AAGTGTGCCTCTTAGACCC
59
GTCAGTAGTGACTGCAACC
58
TCATGCTTTCCTTGCTCTC
58
ACCCTTTATGCCTCTGTCG
60
GATAAATCTTGGTCCATAGTTTGGG
60
CTTCCTCCTAGGGATGTGTC
59
GTGACAAGGGTGAAAGTGG
59
CTTAACAGGTCTTCTGTACTTACG
59
GTTCAGCTTTGTGGACCTC
59
ATTGGTGGGATGTCTTCGT
59

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
CIITA
COL1A1
Repression
16439692
ETS1
COL1A1
Unknown
16564026
MKL1
COL1A1
Activation
22049076
MYB
COL1A1
Activation
9989795
MYBL2
COL1A1
Unknown
14613485
NFIC
COL1A1
Unknown
10082137; 7504695
NFKB1
COL1A1
Unknown
11277268
RELA
COL1A1
Unknown
11277268
SP1
COL1A1
Unknown
10082137; 10091149; 10775443; 12138160; 16564026; 7504695; 7590335
SP3
COL1A1
Unknown
10082137

Gene Ontology

Subcellular localization of COL1A1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for COL1A1:

GO ID
Protein
Source DB
GO:0001501
P02452 (UniProtKB)
IMP
GO:0001501
P02452 (UniProtKB)
IMP
GO:0001501
P02452 (UniProtKB)
IMP
GO:0001568
P02452 (UniProtKB)
IMP
GO:0001649
P02452 (UniProtKB)
IEA
GO:0001957
P02452 (UniProtKB)
IEA
GO:0001958
P02452 (UniProtKB)
IEA
GO:0005201
P02452 (UniProtKB)
IEA
GO:0005515
P02452 (UniProtKB)
IPI
GO:0005515
P02452 (UniProtKB)
IPI
GO:0005515
P02452 (UniProtKB)
IPI
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005584
P02452 (UniProtKB)
IMP
GO:0005584
P02452 (UniProtKB)
IMP
GO:0005615
P02452 (UniProtKB)
IDA
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005794
P02452 (UniProtKB)
IEA
GO:0007596
P02452 (UniProtKB)
TAS
GO:0007601
P02452 (UniProtKB)
IMP
GO:0007605
P02452 (UniProtKB)
IMP
GO:0010718
P02452 (UniProtKB)
IDA
GO:0010812
P02452 (UniProtKB)
IEA
GO:0015031
P02452 (UniProtKB)
IEA
GO:0030141
P02452 (UniProtKB)
IEA
GO:0030168
P02452 (UniProtKB)
TAS
GO:0030198
P02452 (UniProtKB)
TAS
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030335
P02452 (UniProtKB)
IDA
GO:0030574
P02452 (UniProtKB)
TAS
GO:0031012
P02452 (UniProtKB)
IDA
GO:0031960
P02452 (UniProtKB)
IEA
GO:0032355
P02452 (UniProtKB)
IEA
GO:0032964
P02452 (UniProtKB)
IMP
GO:0034504
P02452 (UniProtKB)
IDA
GO:0034505
P02452 (UniProtKB)
IMP
GO:0042493
P02452 (UniProtKB)
IEA
GO:0042542
P02452 (UniProtKB)
IEA
GO:0042802
P02452 (UniProtKB)
IDA
GO:0043434
P02452 (UniProtKB)
IEA
GO:0043589
P02452 (UniProtKB)
IMP
GO:0044344
P02452 (UniProtKB)
IEA
GO:0044691
P02452 (UniProtKB)
IEA
GO:0045893
P02452 (UniProtKB)
IDA
GO:0046872
P02452 (UniProtKB)
IEA
GO:0048407
P02452 (UniProtKB)
IDA
GO:0048706
P02452 (UniProtKB)
IMP
GO:0050776
P02452 (UniProtKB)
TAS
GO:0050900
P02452 (UniProtKB)
TAS
GO:0051591
P02452 (UniProtKB)
IEA
GO:0055093
P02452 (UniProtKB)
IEA
GO:0060325
P02452 (UniProtKB)
IEA
GO:0060346
P02452 (UniProtKB)
IEA
GO:0060351
P02452 (UniProtKB)
IEA
GO:0070208
P02452 (UniProtKB)
IEA
GO:0071230
P02452 (UniProtKB)
IEA
GO:0071260
P02452 (UniProtKB)
IEA
GO:0071260
P02452 (UniProtKB)
IEA
GO:0071300
P02452 (UniProtKB)
IEA
GO:0071306
P02452 (UniProtKB)
IEA
GO:0071356
P02452 (UniProtKB)
IEA
GO:0071364
P02452 (UniProtKB)
IEA
GO:0071560
P02452 (UniProtKB)
IEA
GO:0090263
P02452 (UniProtKB)
IDA
GO:1902618
P02452 (UniProtKB)
IEA
GO:0031012
P02452 (UniProtKB)
IDA
GO:0031012
P02452 (UniProtKB)
ISS

Related microRNA

Related microRNA

microRNAs potentially regulating COL1A1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Osteogenesis imperfecta type III (disorder) 0.562442977 22 9 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Cortical Congenital Hyperostosis 0.484353001 6 1 BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET_UNIPROT
Osteogenesis imperfecta type IV (disorder) 0.481900093 17 3 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Ehlers-Danlos syndrome type 1 0.480271442 2 1 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Lobstein's Disease 0.327871814 40 9 BeFree_CLINVAR_MGD_UNIPROT
Osteogenesis imperfecta, dominant perinatal lethal 0.322171535 36 1 BeFree_CTD_human_MGD_UNIPROT
Osteogenesis Imperfecta 0.315633557 130 29 BeFree_CLINVAR_CTD_human_GAD_LHGDN
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 0.24 0 0 CTD_human_ORPHANET
Osteoporosis 0.190496532 38 0 BeFree_CTD_human_GAD_LHGDN
Dermatofibrosarcoma Protuberans 0.130857675 40 0 BeFree_ORPHANET

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