Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Collagen alpha-1(X) chain

Gene

COL10A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • extracellular matrix organization Source: Reactome
  • skeletal system development Source: ProtInc

Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

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
R-HSA-8948216 Collagen chain trimerization
SIGNORiQ03692

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

EuPathDBiHostDB:ENSG00000123500.9
HGNCiHGNC:2185 COL10A1
MIMi120110 gene
neXtProtiNX_Q03692

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs111033551EnsemblClinVar.1
Natural variantiVAR_00183918G → R in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033550EnsemblClinVar.1
Natural variantiVAR_023188582Y → D in SMCD. 1 Publication1
Natural variantiVAR_001841591C → R in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033546EnsemblClinVar.1
Natural variantiVAR_023189595G → R in SMCD. 1 Publication1
Natural variantiVAR_008039597Y → C in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033554EnsemblClinVar.1
Natural variantiVAR_001843597Y → H in SMCD. 2 Publications1
Natural variantiVAR_001844598Y → D in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033544EnsemblClinVar.1
Natural variantiVAR_001845600S → P in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033555EnsemblClinVar.1
Natural variantiVAR_001846614L → P in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033545EnsemblClinVar.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 dbSNP:rs111033549EnsemblClinVar.1
Natural variantiVAR_023192653Q → P in SMCD. 1 Publication1
Natural variantiVAR_023193671S → P in SMCD. 1 PublicationCorresponds to variant dbSNP:rs111033552EnsemblClinVar.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
ProteomicsDBi58218

PTM databases

PhosphoSitePlusiQ03692

Expressioni

Gene expression databases

BgeeiENSG00000123500
CleanExiHS_COL10A1
ExpressionAtlasiQ03692 baseline and differential
GenevisibleiQ03692 HS

Organism-specific databases

HPAiHPA053268

Interactioni

Subunit structurei

Homotrimer.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi107697, 13 interactors
ComplexPortaliCPX-1749 Collagen type X trimer
IntActiQ03692, 6 interactors
MINTiQ03692
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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 3 hits
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit

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 dbSNP:rs111033551EnsemblClinVar.1
Natural variantiVAR_00183918G → R in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033550EnsemblClinVar.1
Natural variantiVAR_02318627M → T2 PublicationsCorresponds to variant dbSNP:rs1064583EnsemblClinVar.1
Natural variantiVAR_04876798G → R. Corresponds to variant dbSNP:rs2243370Ensembl.1
Natural variantiVAR_023187198R → H1 PublicationCorresponds to variant dbSNP:rs148785195EnsemblClinVar.1
Natural variantiVAR_001840545G → R2 PublicationsCorresponds to variant dbSNP:rs2228547EnsemblClinVar.1
Natural variantiVAR_023188582Y → D in SMCD. 1 Publication1
Natural variantiVAR_001841591C → R in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033546EnsemblClinVar.1
Natural variantiVAR_001842595G → E in SMCD and spondylometaphyseal dysplasia Japanese type. 3 PublicationsCorresponds to variant dbSNP:rs111033553EnsemblClinVar.1
Natural variantiVAR_023189595G → R in SMCD. 1 Publication1
Natural variantiVAR_008039597Y → C in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033554EnsemblClinVar.1
Natural variantiVAR_001843597Y → H in SMCD. 2 Publications1
Natural variantiVAR_001844598Y → D in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033544EnsemblClinVar.1
Natural variantiVAR_001845600S → P in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033555EnsemblClinVar.1
Natural variantiVAR_023190603V → M1 PublicationCorresponds to variant dbSNP:rs143769451Ensembl.1
Natural variantiVAR_001846614L → P in SMCD. 2 PublicationsCorresponds to variant dbSNP:rs111033545EnsemblClinVar.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 dbSNP:rs111033549EnsemblClinVar.1
Natural variantiVAR_023192653Q → P in SMCD. 1 Publication1
Natural variantiVAR_023193671S → P in SMCD. 1 PublicationCorresponds to variant dbSNP:rs111033552EnsemblClinVar.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiCOAA1_HUMAN
AccessioniPrimary (citable) accession number: Q03692
Secondary accession number(s): A1L4P2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1997
Last modified: June 20, 2018
This is version 182 of the entry and version 2 of the sequence. See 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health