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Protein

Collagen alpha-1(X) chain

Gene

COL10A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi634Calcium1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123500-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000171. Non-integrin membrane-ECM interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(X) chain
Gene namesi
Name:COL10A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:2185. COL10A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Schmid type metaphyseal chondrodysplasia (SMCD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.
See also OMIM:156500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00183818G → E in SMCD. 2 PublicationsCorresponds to variant rs111033551dbSNPEnsembl.1
Natural variantiVAR_00183918G → R in SMCD. 2 PublicationsCorresponds to variant rs111033550dbSNPEnsembl.1
Natural variantiVAR_023188582Y → D in SMCD. 1 Publication1
Natural variantiVAR_001841591C → R in SMCD. 2 PublicationsCorresponds to variant rs111033546dbSNPEnsembl.1
Natural variantiVAR_001842595G → E in SMCD and spondylometaphyseal dysplasia Japanese type. 3 PublicationsCorresponds to variant rs111033553dbSNPEnsembl.1
Natural variantiVAR_023189595G → R in SMCD. 1 Publication1
Natural variantiVAR_008039597Y → C in SMCD. 2 PublicationsCorresponds to variant rs111033554dbSNPEnsembl.1
Natural variantiVAR_001843597Y → H in SMCD. 2 Publications1
Natural variantiVAR_001844598Y → D in SMCD. 2 PublicationsCorresponds to variant rs111033544dbSNPEnsembl.1
Natural variantiVAR_001845600S → P in SMCD. 2 PublicationsCorresponds to variant rs111033555dbSNPEnsembl.1
Natural variantiVAR_001846614L → P in SMCD. 2 PublicationsCorresponds to variant rs111033545dbSNPEnsembl.1
Natural variantiVAR_001847617N → K in SMCD. 2 Publications1
Natural variantiVAR_001848618G → V in SMCD. 2 Publications1
Natural variantiVAR_001849644L → R in SMCD. 2 Publications1
Natural variantiVAR_001850648D → G in SMCD. 2 Publications1
Natural variantiVAR_023191651W → R in SMCD. 1 PublicationCorresponds to variant rs111033549dbSNPEnsembl.1
Natural variantiVAR_023192653Q → P in SMCD. 1 Publication1
Natural variantiVAR_023193671S → P in SMCD. 1 PublicationCorresponds to variant rs111033552dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1300.
MalaCardsiCOL10A1.
MIMi156500. phenotype.
OpenTargetsiENSG00000123500.
Orphaneti174. Metaphyseal chondrodysplasia, Schmid type.
PharmGKBiPA26701.

Polymorphism and mutation databases

BioMutaiCOL10A1.
DMDMi2506306.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000577019 – 680Collagen alpha-1(X) chainAdd BLAST662

Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Keywords - PTMi

Hydroxylation

Proteomic databases

PaxDbiQ03692.
PeptideAtlasiQ03692.
PRIDEiQ03692.

PTM databases

PhosphoSitePlusiQ03692.

Expressioni

Gene expression databases

BgeeiENSG00000123500.
CleanExiHS_COL10A1.
ExpressionAtlasiQ03692. baseline and differential.
GenevisibleiQ03692. HS.

Organism-specific databases

HPAiCAB000047.

Interactioni

Subunit structurei

Homotrimer.

Binary interactionsi

WithEntry#Exp.IntActNotes
BANPQ8N9N53EBI-2528309,EBI-744695
UBQLN1Q9UMX05EBI-2528309,EBI-741480
UBQLN1Q9UMX0-23EBI-2528309,EBI-10173939

Protein-protein interaction databases

BioGridi107697. 11 interactors.
IntActiQ03692. 3 interactors.
MINTiMINT-101719.
STRINGi9606.ENSP00000243222.

Structurei

Secondary structure

1680
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi553 – 557Combined sources5
Beta strandi560 – 562Combined sources3
Beta strandi573 – 576Combined sources4
Turni584 – 586Combined sources3
Beta strandi595 – 616Combined sources22
Beta strandi619 – 626Combined sources8
Beta strandi634 – 644Combined sources11
Beta strandi649 – 653Combined sources5
Beta strandi659 – 663Combined sources5
Beta strandi666 – 668Combined sources3
Beta strandi671 – 679Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GR3X-ray2.00A521-680[»]
ProteinModelPortaliQ03692.
SMRiQ03692.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ03692.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini547 – 680C1qPROSITE-ProRule annotationAdd BLAST134

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni19 – 56Nonhelical region (NC2)Add BLAST38
Regioni57 – 519Triple-helical regionAdd BLAST463
Regioni520 – 680Nonhelical region (NC1)Add BLAST161

Sequence similaritiesi

Contains 1 C1q domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IGA1. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000118830.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiQ03692.
KOiK19479.
OMAiYGPKGDV.
OrthoDBiEOG091G0L3Y.
PhylomeDBiQ03692.
TreeFamiTF334029.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. C1q_dom.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00386. C1q. 1 hit.
PF01391. Collagen. 3 hits.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q03692-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLPQIPFLLL VSLNLVHGVF YAERYQMPTG IKGPLPNTKT QFFIPYTIKS
60 70 80 90 100
KGIAVRGEQG TPGPPGPAGP RGHPGPSGPP GKPGYGSPGL QGEPGLPGPP
110 120 130 140 150
GPSAVGKPGV PGLPGKPGER GPYGPKGDVG PAGLPGPRGP PGPPGIPGPA
160 170 180 190 200
GISVPGKPGQ QGPTGAPGPR GFPGEKGAPG VPGMNGQKGE MGYGAPGRPG
210 220 230 240 250
ERGLPGPQGP TGPSGPPGVG KRGENGVPGQ PGIKGDRGFP GEMGPIGPPG
260 270 280 290 300
PQGPPGERGP EGIGKPGAAG APGQPGIPGT KGLPGAPGIA GPPGPPGFGK
310 320 330 340 350
PGLPGLKGER GPAGLPGGPG AKGEQGPAGL PGKPGLTGPP GNMGPQGPKG
360 370 380 390 400
IPGSHGLPGP KGETGPAGPA GYPGAKGERG SPGSDGKPGY PGKPGLDGPK
410 420 430 440 450
GNPGLPGPKG DPGVGGPPGL PGPVGPAGAK GMPGHNGEAG PRGAPGIPGT
460 470 480 490 500
RGPIGPPGIP GFPGSKGDPG SPGPPGPAGI ATKGLNGPTG PPGPPGPRGH
510 520 530 540 550
SGEPGLPGPP GPPGPPGQAV MPEGFIKAGQ RPSLSGTPLV SANQGVTGMP
560 570 580 590 600
VSAFTVILSK AYPAIGTPIP FDKILYNRQQ HYDPRTGIFT CQIPGIYYFS
610 620 630 640 650
YHVHVKGTHV WVGLYKNGTP VMYTYDEYTK GYLDQASGSA IIDLTENDQV
660 670 680
WLQLPNAESN GLYSSEYVHS SFSGFLVAPM
Length:680
Mass (Da):66,158
Last modified:November 1, 1997 - v2
Checksum:iE2F98E53E7882459
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti500H → P in CAA42933 (PubMed:1764025).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00183818G → E in SMCD. 2 PublicationsCorresponds to variant rs111033551dbSNPEnsembl.1
Natural variantiVAR_00183918G → R in SMCD. 2 PublicationsCorresponds to variant rs111033550dbSNPEnsembl.1
Natural variantiVAR_02318627M → T.2 PublicationsCorresponds to variant rs1064583dbSNPEnsembl.1
Natural variantiVAR_04876798G → R.Corresponds to variant rs2243370dbSNPEnsembl.1
Natural variantiVAR_023187198R → H.1 PublicationCorresponds to variant rs148785195dbSNPEnsembl.1
Natural variantiVAR_001840545G → R.2 PublicationsCorresponds to variant rs2228547dbSNPEnsembl.1
Natural variantiVAR_023188582Y → D in SMCD. 1 Publication1
Natural variantiVAR_001841591C → R in SMCD. 2 PublicationsCorresponds to variant rs111033546dbSNPEnsembl.1
Natural variantiVAR_001842595G → E in SMCD and spondylometaphyseal dysplasia Japanese type. 3 PublicationsCorresponds to variant rs111033553dbSNPEnsembl.1
Natural variantiVAR_023189595G → R in SMCD. 1 Publication1
Natural variantiVAR_008039597Y → C in SMCD. 2 PublicationsCorresponds to variant rs111033554dbSNPEnsembl.1
Natural variantiVAR_001843597Y → H in SMCD. 2 Publications1
Natural variantiVAR_001844598Y → D in SMCD. 2 PublicationsCorresponds to variant rs111033544dbSNPEnsembl.1
Natural variantiVAR_001845600S → P in SMCD. 2 PublicationsCorresponds to variant rs111033555dbSNPEnsembl.1
Natural variantiVAR_023190603V → M.1 PublicationCorresponds to variant rs143769451dbSNPEnsembl.1
Natural variantiVAR_001846614L → P in SMCD. 2 PublicationsCorresponds to variant rs111033545dbSNPEnsembl.1
Natural variantiVAR_001847617N → K in SMCD. 2 Publications1
Natural variantiVAR_001848618G → V in SMCD. 2 Publications1
Natural variantiVAR_001849644L → R in SMCD. 2 Publications1
Natural variantiVAR_001850648D → G in SMCD. 2 Publications1
Natural variantiVAR_023191651W → R in SMCD. 1 PublicationCorresponds to variant rs111033549dbSNPEnsembl.1
Natural variantiVAR_023192653Q → P in SMCD. 1 Publication1
Natural variantiVAR_023193671S → P in SMCD. 1 PublicationCorresponds to variant rs111033552dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X60382 Genomic DNA. Translation: CAA42933.1.
X72579, X72580 Genomic DNA. Translation: CAA51170.1.
X98568 Genomic DNA. Translation: CAA67178.1.
AL121963 Genomic DNA. Translation: CAB87590.1.
CH471051 Genomic DNA. Translation: EAW48240.1.
BC130621 mRNA. Translation: AAI30622.1.
BC130623 mRNA. Translation: AAI30624.1.
X65120 Genomic DNA. Translation: CAA46236.1.
X58879 Genomic DNA. Translation: CAA41686.1.
M74050 Genomic DNA. Translation: AAA61221.1.
S68531 mRNA. Translation: AAC60615.1.
CCDSiCCDS5105.1.
PIRiS26396. CGHU1D.
RefSeqiNP_000484.2. NM_000493.3.
XP_006715396.1. XM_006715333.3.
XP_011533734.1. XM_011535432.2.
XP_011533735.1. XM_011535433.2.
XP_016865737.1. XM_017010248.1.
XP_016865738.1. XM_017010249.1.
UniGeneiHs.520339.

Genome annotation databases

EnsembliENST00000243222; ENSP00000243222; ENSG00000123500.
ENST00000327673; ENSP00000327368; ENSG00000123500.
GeneIDi1300.
KEGGihsa:1300.
UCSCiuc003pwm.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X60382 Genomic DNA. Translation: CAA42933.1.
X72579, X72580 Genomic DNA. Translation: CAA51170.1.
X98568 Genomic DNA. Translation: CAA67178.1.
AL121963 Genomic DNA. Translation: CAB87590.1.
CH471051 Genomic DNA. Translation: EAW48240.1.
BC130621 mRNA. Translation: AAI30622.1.
BC130623 mRNA. Translation: AAI30624.1.
X65120 Genomic DNA. Translation: CAA46236.1.
X58879 Genomic DNA. Translation: CAA41686.1.
M74050 Genomic DNA. Translation: AAA61221.1.
S68531 mRNA. Translation: AAC60615.1.
CCDSiCCDS5105.1.
PIRiS26396. CGHU1D.
RefSeqiNP_000484.2. NM_000493.3.
XP_006715396.1. XM_006715333.3.
XP_011533734.1. XM_011535432.2.
XP_011533735.1. XM_011535433.2.
XP_016865737.1. XM_017010248.1.
XP_016865738.1. XM_017010249.1.
UniGeneiHs.520339.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GR3X-ray2.00A521-680[»]
ProteinModelPortaliQ03692.
SMRiQ03692.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107697. 11 interactors.
IntActiQ03692. 3 interactors.
MINTiMINT-101719.
STRINGi9606.ENSP00000243222.

PTM databases

PhosphoSitePlusiQ03692.

Polymorphism and mutation databases

BioMutaiCOL10A1.
DMDMi2506306.

Proteomic databases

PaxDbiQ03692.
PeptideAtlasiQ03692.
PRIDEiQ03692.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243222; ENSP00000243222; ENSG00000123500.
ENST00000327673; ENSP00000327368; ENSG00000123500.
GeneIDi1300.
KEGGihsa:1300.
UCSCiuc003pwm.4. human.

Organism-specific databases

CTDi1300.
DisGeNETi1300.
GeneCardsiCOL10A1.
HGNCiHGNC:2185. COL10A1.
HPAiCAB000047.
MalaCardsiCOL10A1.
MIMi120110. gene.
156500. phenotype.
neXtProtiNX_Q03692.
OpenTargetsiENSG00000123500.
Orphaneti174. Metaphyseal chondrodysplasia, Schmid type.
PharmGKBiPA26701.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGA1. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000118830.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiQ03692.
KOiK19479.
OMAiYGPKGDV.
OrthoDBiEOG091G0L3Y.
PhylomeDBiQ03692.
TreeFamiTF334029.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123500-MONOMER.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000171. Non-integrin membrane-ECM interactions.

Miscellaneous databases

EvolutionaryTraceiQ03692.
GeneWikiiCollagen,_type_X,_alpha_1.
GenomeRNAii1300.
PROiQ03692.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123500.
CleanExiHS_COL10A1.
ExpressionAtlasiQ03692. baseline and differential.
GenevisibleiQ03692. HS.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. C1q_dom.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00386. C1q. 1 hit.
PF01391. Collagen. 3 hits.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOAA1_HUMAN
AccessioniPrimary (citable) accession number: Q03692
Secondary accession number(s): A1L4P2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1997
Last modified: November 30, 2016
This is version 168 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.