UniProt:Q8IZC6 COL27A1

chain
  • signal peptide:1-41
  • propeptide:42-624
  • chain:625-1621
  • propeptide:1622-1860
checksum 5F8CDFAF4B6014EC
comment
  • FUNCTION Plays a role during the calcification of cartilage and the transition of cartilage to bone.SUBCELLULAR LOCATION Found on some small banded collagen fibrils and meshworks.ALTERNATIVE PRODUCTS Detected at 67 dpc in the primary ossification center and is tightly restricted to the pericellular region of the hypertrophic chondrocytes and lacunae at the very center of the future diaphysis. At fetal 20-week highly abundant in the hypertrophic zone at the chondroosseous junction. Weakly detected around cells in the resting and proliferative zone of the cartilaginous plate, but the intense detection occurred deep in the hypertrophic zone near the newly formed bone. Detected throughout the extracellular matrix (ECM) in this zone it is also closely situated around hypertrophic chondrocytes.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).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the fibrillar collagen family.SEQUENCE CAUTION Truncated N-terminus.
databaseName UniProt
dbId 224989
description
  • recommendedName: Collagen alpha-1(XXVII) chain
displayName UniProt:Q8IZC6 COL27A1
geneName
  • COL27A1
  • KIAA1870
identifier Q8IZC6
isSequenceChanged false
keyword
  • Alternative splicing
  • Calcium
  • Collagen
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Extracellular matrix
  • Glycoprotein
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
moleculeType Protein
name
  • COL27A1
otherIdentifier
  • 11736900_a_at
  • 17088320
  • 225288_PM_at
  • 225288_at
  • 225292_PM_at
  • 225292_at
  • 225293_PM_at
  • 225293_at
  • 230603_PM_at
  • 230603_at
  • 237452_PM_at
  • 237452_at
  • 3185980
  • 3185981
  • 3185982
  • 3185985
  • 3185986
  • 3185987
  • 3185988
  • 3185989
  • 3185990
  • 3185991
  • 3185992
  • 3185993
  • 3186001
  • 3186003
  • 3186007
  • 3186009
  • 3186011
  • 3186013
  • 3186015
  • 3186018
  • 3186019
  • 3186024
  • 3186025
  • 3186027
  • 3186030
  • 3186033
  • 3186036
  • 3186043
  • 3186044
  • 3186045
  • 3186047
  • 3186048
  • 3186050
  • 3186052
  • 3186054
  • 3186055
  • 3186058
  • 3186066
  • 3186067
  • 3186068
  • 3186069
  • 3186070
  • 3186071
  • 3186072
  • 3186073
  • 3186074
  • 3186075
  • 3186076
  • 3186077
  • 3186078
  • 3186079
  • 3186081
  • 3186082
  • 3186083
  • 3186084
  • 3186086
  • 3186089
  • 3186090
  • 3186092
  • 3186095
  • 3186096
  • 3186097
  • 3186099
  • 3186104
  • 3186105
  • 3186106
  • 3186108
  • 3186109
  • 3186110
  • 3186112
  • 3186114
  • 3186115
  • 3186116
  • 3186118
  • 3186119
  • 3186120
  • 3186121
  • 3186122
  • 46720_at
  • 47351_at
  • 47352_g_at
  • 53613_at
  • 56640_at
  • 78276_at
  • 80538_s_at
  • 8157383
  • 85301
  • A_14_P100001
  • A_23_P146717
  • A_23_P158096
  • A_24_P363896
  • A_33_P3413168
  • GE501149
  • GE83326
  • GO:0001501
  • GO:0003431
  • GO:0005198
  • GO:0005201
  • GO:0005576
  • GO:0005581
  • GO:0005583
  • GO:0005788
  • GO:0030020
  • GO:0030198
  • GO:0030312
  • GO:0031012
  • GO:0046872
  • GO:0048856
  • HMNXSV003004266
  • HMNXSV003037339
  • HMNXSV003053728
  • Hs.132802.0.A1_3p_at
  • Hs.284394.1.A1_3p_at
  • Hs.284394.1.A1_3p_x_at
  • Hs.284394.1.A2_3p_at
  • Hs.284394.1.A3_3p_at
  • Hs.59892.0.A1_3p_at
  • ILMN_1788377
  • PH_hs_0022158
  • TC09000580.hg
  • TC09000582.hg
physicalEntity
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • CORA1_HUMAN
  • Q66K43
  • Q96JF7
sequenceLength 1860
stId uniprot:Q8IZC6

Referrals

(referenceEntity)
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