Reactome: A Curated Pathway Database
Class:IdReferenceGeneProduct:51126
_chainChangeLogsignal peptide:1-22 added on Fri February 6 2015;propeptide:23-161 added on Fri February 6 2015;chain:162-1218 added on Fri February 6 2015;propeptide:1219-1464 added on Fri February 6 2015
_displayNameUniProt:P02452 COL1A1
_timestamp2016-02-24 23:38:45
chainsignal peptide:1-22
propeptide:23-161
chain:162-1218
propeptide:1219-1464
checksumF0EC4DE778FFFC11
commentFUNCTION Type I collagen is a member of group I collagen (fibrillar forming collagen).TISSUE SPECIFICITY Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.DISEASE A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.
crossReference[DatabaseIdentifier:9707936] GeneCards:P02452
[DatabaseIdentifier:9749081] PRO:P02452
[DatabaseIdentifier:9775667] RefSeq:NP_000079
[DatabaseIdentifier:9829716] UCSC human:P02452
[DatabaseIdentifier:11009034] HMDB_protein:HMDBP01757
descriptionrecommendedName: Collagen alpha-1(I) chain alternativeName: Alpha-1 type I collagen
geneNameCOL1A1
identifierP02452
isSequenceChangedFALSE
keyword3D-structure
Calcium
Chromosomal rearrangement
Collagen
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Dwarfism
Ehlers-Danlos syndrome
Extracellular matrix
Glycoprotein
Hydroxylation
Metal-binding
Osteogenesis imperfecta
Phosphoprotein
Polymorphism
Pyrrolidone carboxylic acid
Reference proteome
Repeat
Secreted
Signal
modified[InstanceEdit:84067] Schmidt, EE, 2003-12-18 04:29:09
[InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10
[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
[InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12
[InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39
[InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18
[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
[InstanceEdit:423310] Kanapin, AA
[InstanceEdit:435478] Kanapin, AA
[InstanceEdit:435871] Kanapin, AA
[InstanceEdit:447347] Kanapin, AA
[InstanceEdit:525883] Kanapin, AA
[InstanceEdit:613449] Kanapin, AA
[InstanceEdit:797602] Kanapin, AA
[InstanceEdit:937368] Yung, CK
[InstanceEdit:1042053] Yung, CK
[InstanceEdit:1220657] Yung, CK
[InstanceEdit:1300696] Yung, CK
[InstanceEdit:1301627] Yung, CK
[InstanceEdit:1551960] Weiser, JD
[InstanceEdit:1995863] Weiser, JD
[InstanceEdit:2132304] Weiser, JD
[InstanceEdit:2265580] Weiser, JD
[InstanceEdit:2455454] Weiser, JD
[InstanceEdit:3132113] Weiser, JD
[InstanceEdit:3445779] Weiser, JD
[InstanceEdit:4341137] Weiser, JD
[InstanceEdit:5433710] Weiser, JD
[InstanceEdit:5618415] Weiser, JD
[InstanceEdit:5634237] Weiser, JD
[InstanceEdit:5673015] Weiser, JD
[InstanceEdit:6807888] Weiser, JD
[InstanceEdit:9585445] Croft, D
[InstanceEdit:9609708] Croft, D
[InstanceEdit:9633970] Croft, D
[InstanceEdit:9658232] Croft, D
[InstanceEdit:9682494] Croft, D
[InstanceEdit:9706561] Croft, D
[InstanceEdit:9745126] Croft, D
[InstanceEdit:9773795] Croft, D
[InstanceEdit:9810776] Croft, D
[InstanceEdit:9828341] Croft, D
[InstanceEdit:10995712] Croft, D
[InstanceEdit:11008109] Croft, D
nameCOL1A1
otherIdentifier11715350_a_at
11715351_at
11715352_x_at
11746872_a_at
1277
1556499_s_at
202310_s_at
202311_s_at
202312_s_at
35473_at
35474_s_at
A_33_P3304668
CCDS11561
COL1A1
COL1A1-001
ENSG00000108821
ENSP00000225964
ENST00000225964
EntrezGene:1277
g4502944_3p_a_at
GE60433
GE80888
HGNC:2197
HPA008405
HPA011795
Hs.172928
Hs.172928.0.A1_3p_a_at
Hs.172928.0.A2_3p_a_at
Hs2.433191.1.A1_3p_s_at
ILMN_1701308
IPR000885
IPR001007
IPR008160
LRG_1
LRG_1t1
M55998_s_at
MIM:120150
NM_000088
NP_000079
OTTHUMP00000192905
PF00093
PF01391
PF01410
PH_hs_0010359
R-HSA-109582
R-HSA-114604
R-HSA-1280218
R-HSA-1442490
R-HSA-1474228
R-HSA-1474244
R-HSA-1474290
R-HSA-1650814
R-HSA-168256
R-HSA-198933
R-HSA-2022090
R-HSA-202733
R-HSA-216083
R-HSA-2173782
R-HSA-2214320
R-HSA-2243919
R-HSA-3000170
R-HSA-3000171
R-HSA-3000178
R-HSA-3000480
R-HSA-5653656
R-HSA-75892
R-HSA-76002
SM00038
SM00214
uc002iqm.4
UPI0000DACAC3
XM_005257058
XM_011524341
XP_005257115
XP_011522643
Z74615_at
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:10997749] KEGG Gene:COL1A1 [Homo sapiens]
[ReferenceDNASequence:9578966] Orphanet:15767 [Homo sapiens]
[ReferenceDNASequence:9587203] NCBI Gene:1277 [Homo sapiens]
[ReferenceDNASequence:9612665] BioGPS Gene:1277 [Homo sapiens]
[ReferenceDNASequence:9636927] CTD Gene:1277 [Homo sapiens]
[ReferenceDNASequence:9661189] dbSNP Gene:1277 [Homo sapiens]
[ReferenceDNASequence:9684257] ENSEMBL:ENSG00000108821 [Homo sapiens]
referenceTranscript[ReferenceRNASequence:9810927] RefSeq:NM_000088
secondaryIdentifierCO1A1_HUMAN
O76045
P78441
Q13896
Q13902
Q13903
Q14037
Q14992
Q15176
Q15201
Q16050
Q59F64
Q7KZ30
Q7KZ34
Q8IVI5
Q8N473
Q9UML6
Q9UMM7
sequenceLength1464
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:51125] COL1A1 [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:1650777] COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:1985659] 3x4Hyp-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:1985663] 5Hyl-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2022446] 3x4Hyp-3Hyp-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2022951] 3x4Hyp-5Hyl-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2022954] 3x4Hyp-3Hyp-5Hyl-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2022999] GalHyl-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2023559] 3x4Hyp-3Hyp-GalHyl-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2023582] 3x4Hyp-GalHyl-COL1A1(23-1464) [endoplasmic reticulum lumen] [Homo sapiens]
List all 141 refering instances
(referenceSequence)[ModifiedResidue:1985661] (2S,4R)-4-hydroxyproline at unknown position
[ModifiedResidue:1985664] (2S,3S)-3-hydroxyproline at unknown position
[ModifiedResidue:1985665] (2S,5R)-5-hydroxylysine at unknown position
[ModifiedResidue:2023002] O5-galactosyl-L-hydroxylysine at unknown position
[ModifiedResidue:2023603] O5-glucosylgalactosyl-L-hydroxylysine at unknown position
[ModifiedResidue:2228687] L-allysine at 170
[ModifiedResidue:2228689] L-allysine at 170
[ModifiedResidue:2228691] L-allysine at 170
[ModifiedResidue:2228694] L-allysine at 170
[ModifiedResidue:2228698] L-allysine at 170
List all 77 refering instances