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Q03692

- COAA1_HUMAN

UniProt

Q03692 - COAA1_HUMAN

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Protein

Collagen alpha-1(X) chain

Gene
COL10A1
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi634 – 6341Calcium

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cartilage development Source: Ensembl
  2. collagen catabolic process Source: Reactome
  3. endochondral ossification Source: Ensembl
  4. extracellular matrix disassembly Source: Reactome
  5. extracellular matrix organization Source: Reactome
  6. skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.
REACT_163874. 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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:2185. COL10A1.

Subcellular locationi

GO - Cellular componenti

  1. cell cortex Source: Ensembl
  2. collagen trimer Source: ProtInc
  3. endoplasmic reticulum lumen Source: Reactome
  4. extracellular region Source: Reactome
  5. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]: Dominantly 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181G → E in SMCD. 2 Publications
VAR_001838
Natural varianti18 – 181G → R in SMCD. 2 Publications
VAR_001839
Natural varianti582 – 5821Y → D in SMCD. 1 Publication
VAR_023188
Natural varianti591 – 5911C → R in SMCD. 2 Publications
VAR_001841
Natural varianti595 – 5951G → E in SMCD and spondylometaphyseal dysplasia Japanese type. 3 Publications
VAR_001842
Natural varianti595 – 5951G → R in SMCD. 1 Publication
VAR_023189
Natural varianti597 – 5971Y → C in SMCD. 2 Publications
VAR_008039
Natural varianti597 – 5971Y → H in SMCD. 2 Publications
VAR_001843
Natural varianti598 – 5981Y → D in SMCD. 2 Publications
VAR_001844
Natural varianti600 – 6001S → P in SMCD. 2 Publications
VAR_001845
Natural varianti614 – 6141L → P in SMCD. 2 Publications
VAR_001846
Natural varianti617 – 6171N → K in SMCD. 2 Publications
VAR_001847
Natural varianti618 – 6181G → V in SMCD. 2 Publications
VAR_001848
Natural varianti644 – 6441L → R in SMCD. 2 Publications
VAR_001849
Natural varianti648 – 6481D → G in SMCD. 2 Publications
VAR_001850
Natural varianti651 – 6511W → R in SMCD. 1 Publication
VAR_023191
Natural varianti653 – 6531Q → P in SMCD. 1 Publication
VAR_023192
Natural varianti671 – 6711S → P in SMCD. 1 Publication
VAR_023193

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi156500. phenotype.
Orphaneti174. Metaphyseal chondrodysplasia, Schmid type.
PharmGKBiPA26701.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818 Reviewed predictionAdd
BLAST
Chaini19 – 680662Collagen alpha-1(X) chainPRO_0000005770Add
BLAST

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.
PRIDEiQ03692.

Expressioni

Gene expression databases

ArrayExpressiQ03692.
BgeeiQ03692.
CleanExiHS_COL10A1.
GenevestigatoriQ03692.

Organism-specific databases

HPAiHPA053268.

Interactioni

Subunit structurei

Homotrimer.

Protein-protein interaction databases

BioGridi107697. 1 interaction.
MINTiMINT-101719.
STRINGi9606.ENSP00000243222.

Structurei

Secondary structure

1
680
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi553 – 5575
Beta strandi560 – 5623
Beta strandi573 – 5764
Turni584 – 5863
Beta strandi595 – 61622
Beta strandi619 – 6268
Beta strandi634 – 64411
Beta strandi649 – 6535
Beta strandi659 – 6635
Beta strandi666 – 6683
Beta strandi671 – 6799

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1GR3X-ray2.00A521-680[»]
ProteinModelPortaliQ03692.
SMRiQ03692. Positions 549-680.

Miscellaneous databases

EvolutionaryTraceiQ03692.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini547 – 680134C1qAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni19 – 5638Nonhelical region (NC2)Add
BLAST
Regioni57 – 519463Triple-helical regionAdd
BLAST
Regioni520 – 680161Nonhelical region (NC1)Add
BLAST

Sequence similaritiesi

Contains 1 C1q domain.

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG114228.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiQ03692.
OMAiKGPQPNT.
OrthoDBiEOG70ZZPW.
PhylomeDBiQ03692.
TreeFamiTF334029.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. C1q.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00386. C1q. 1 hit.
PF01391. Collagen. 4 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

MLPQIPFLLL VSLNLVHGVF YAERYQMPTG IKGPLPNTKT QFFIPYTIKS    50
KGIAVRGEQG TPGPPGPAGP RGHPGPSGPP GKPGYGSPGL QGEPGLPGPP 100
GPSAVGKPGV PGLPGKPGER GPYGPKGDVG PAGLPGPRGP PGPPGIPGPA 150
GISVPGKPGQ QGPTGAPGPR GFPGEKGAPG VPGMNGQKGE MGYGAPGRPG 200
ERGLPGPQGP TGPSGPPGVG KRGENGVPGQ PGIKGDRGFP GEMGPIGPPG 250
PQGPPGERGP EGIGKPGAAG APGQPGIPGT KGLPGAPGIA GPPGPPGFGK 300
PGLPGLKGER GPAGLPGGPG AKGEQGPAGL PGKPGLTGPP GNMGPQGPKG 350
IPGSHGLPGP KGETGPAGPA GYPGAKGERG SPGSDGKPGY PGKPGLDGPK 400
GNPGLPGPKG DPGVGGPPGL PGPVGPAGAK GMPGHNGEAG PRGAPGIPGT 450
RGPIGPPGIP GFPGSKGDPG SPGPPGPAGI ATKGLNGPTG PPGPPGPRGH 500
SGEPGLPGPP GPPGPPGQAV MPEGFIKAGQ RPSLSGTPLV SANQGVTGMP 550
VSAFTVILSK AYPAIGTPIP FDKILYNRQQ HYDPRTGIFT CQIPGIYYFS 600
YHVHVKGTHV WVGLYKNGTP VMYTYDEYTK GYLDQASGSA IIDLTENDQV 650
WLQLPNAESN GLYSSEYVHS SFSGFLVAPM 680
Length:680
Mass (Da):66,158
Last modified:November 1, 1997 - v2
Checksum:iE2F98E53E7882459
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181G → E in SMCD. 2 Publications
VAR_001838
Natural varianti18 – 181G → R in SMCD. 2 Publications
VAR_001839
Natural varianti27 – 271M → T.2 Publications
Corresponds to variant rs1064583 [ dbSNP | Ensembl ].
VAR_023186
Natural varianti98 – 981G → R.
Corresponds to variant rs2243370 [ dbSNP | Ensembl ].
VAR_048767
Natural varianti198 – 1981R → H.1 Publication
Corresponds to variant rs148785195 [ dbSNP | Ensembl ].
VAR_023187
Natural varianti545 – 5451G → R.2 Publications
Corresponds to variant rs2228547 [ dbSNP | Ensembl ].
VAR_001840
Natural varianti582 – 5821Y → D in SMCD. 1 Publication
VAR_023188
Natural varianti591 – 5911C → R in SMCD. 2 Publications
VAR_001841
Natural varianti595 – 5951G → E in SMCD and spondylometaphyseal dysplasia Japanese type. 3 Publications
VAR_001842
Natural varianti595 – 5951G → R in SMCD. 1 Publication
VAR_023189
Natural varianti597 – 5971Y → C in SMCD. 2 Publications
VAR_008039
Natural varianti597 – 5971Y → H in SMCD. 2 Publications
VAR_001843
Natural varianti598 – 5981Y → D in SMCD. 2 Publications
VAR_001844
Natural varianti600 – 6001S → P in SMCD. 2 Publications
VAR_001845
Natural varianti603 – 6031V → M.1 Publication
VAR_023190
Natural varianti614 – 6141L → P in SMCD. 2 Publications
VAR_001846
Natural varianti617 – 6171N → K in SMCD. 2 Publications
VAR_001847
Natural varianti618 – 6181G → V in SMCD. 2 Publications
VAR_001848
Natural varianti644 – 6441L → R in SMCD. 2 Publications
VAR_001849
Natural varianti648 – 6481D → G in SMCD. 2 Publications
VAR_001850
Natural varianti651 – 6511W → R in SMCD. 1 Publication
VAR_023191
Natural varianti653 – 6531Q → P in SMCD. 1 Publication
VAR_023192
Natural varianti671 – 6711S → P in SMCD. 1 Publication
VAR_023193

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti500 – 5001H → P in CAA42933. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006715395.1. XM_006715332.1.
XP_006715396.1. XM_006715333.1.
UniGeneiHs.520339.

Genome annotation databases

EnsembliENST00000243222; ENSP00000243222; ENSG00000123500.
ENST00000327673; ENSP00000327368; ENSG00000123500.
GeneIDi1300.
KEGGihsa:1300.
UCSCiuc003pwm.3. human.

Polymorphism databases

DMDMi2506306.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5105.1.
PIRi S26396. CGHU1D.
RefSeqi NP_000484.2. NM_000493.3.
XP_006715395.1. XM_006715332.1.
XP_006715396.1. XM_006715333.1.
UniGenei Hs.520339.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1GR3 X-ray 2.00 A 521-680 [» ]
ProteinModelPortali Q03692.
SMRi Q03692. Positions 549-680.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107697. 1 interaction.
MINTi MINT-101719.
STRINGi 9606.ENSP00000243222.

Polymorphism databases

DMDMi 2506306.

Proteomic databases

PaxDbi Q03692.
PRIDEi Q03692.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000243222 ; ENSP00000243222 ; ENSG00000123500 .
ENST00000327673 ; ENSP00000327368 ; ENSG00000123500 .
GeneIDi 1300.
KEGGi hsa:1300.
UCSCi uc003pwm.3. human.

Organism-specific databases

CTDi 1300.
GeneCardsi GC06M116440.
HGNCi HGNC:2185. COL10A1.
HPAi HPA053268.
MIMi 120110. gene.
156500. phenotype.
neXtProti NX_Q03692.
Orphaneti 174. Metaphyseal chondrodysplasia, Schmid type.
PharmGKBi PA26701.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG114228.
HOGENOMi HOG000085653.
HOVERGENi HBG108220.
InParanoidi Q03692.
OMAi KGPQPNT.
OrthoDBi EOG70ZZPW.
PhylomeDBi Q03692.
TreeFami TF334029.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.
REACT_163874. Non-integrin membrane-ECM interactions.

Miscellaneous databases

EvolutionaryTracei Q03692.
GeneWikii Collagen,_type_X,_alpha_1.
GenomeRNAii 1300.
NextBioi 5279.
PROi Q03692.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q03692.
Bgeei Q03692.
CleanExi HS_COL10A1.
Genevestigatori Q03692.

Family and domain databases

Gene3Di 2.60.120.40. 1 hit.
InterProi IPR001073. C1q.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view ]
Pfami PF00386. C1q. 1 hit.
PF01391. Collagen. 4 hits.
[Graphical view ]
PRINTSi PR00007. COMPLEMNTC1Q.
SMARTi SM00110. C1Q. 1 hit.
[Graphical view ]
SUPFAMi SSF49842. SSF49842. 1 hit.
PROSITEi PS50871. C1Q. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human collagen X gene. Complete primary translated sequence and chromosomal localization."
    Thomas J.T., Cresswell C.J., Rash B., Nicolai H., Jones T., Solomon E., Grant M.E., Boot-Handford R.P.
    Biochem. J. 280:617-623(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-27.
  2. "Genomic organization and full-length cDNA sequence of human collagen X."
    Reichenberger E., Beier F., LuValle P., Olsen B.R., von der Mark K., Bertling W.M.
    FEBS Lett. 311:305-310(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Beier F., Lammi M.B., von der Mark K.
    Submitted (JUN-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. "Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10."
    Apte S.S., Seldin M.F., Hayashi M., Olsen B.R.
    Eur. J. Biochem. 206:217-224(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 52-680.
  8. "Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6."
    Apte S., Mattei M.-G., Olsen B.R.
    FEBS Lett. 282:393-396(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 561-666.
  9. "In situ hybridization studies on the expression of type X collagen in fetal human cartilage."
    Reichenberger E., Aigner T., von der Mark K., Stoeb H., Bertling W.
    Dev. Biol. 148:562-572(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 547-655.
  10. "Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer."
    Bogin O., Kvansakul M., Rom E., Singer J., Yayon A., Hohenester E.
    Structure 10:165-173(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 521-680, CALCIUM-BINDING.
  11. "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels."
    Kuivaniemi H., Tromp G., Prockop D.J.
    Hum. Mutat. 9:300-315(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  12. "Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid."
    Wallis G.A., Rash B., Sweetman W.A., Thomas J.T., Super M., Evans G., Grant M.E., Boot-Handford R.P.
    Am. J. Hum. Genet. 54:169-178(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SMCD ASP-598 AND PRO-614.
  13. "Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus."
    McIntosh I., Abbott M.H., Warman M.L., Olsen B.R., Francomano C.A.
    Hum. Mol. Genet. 3:303-307(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SMCD ARG-591.
  14. "Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia."
    Chan D., Cole W.G., Rogers J.G., Bateman J.F.
    J. Biol. Chem. 270:4558-4562(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SMCD VAL-618.
  15. "Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias."
    Bonaventure J., Chaminade F., Maroteaux P.
    Hum. Genet. 96:58-64(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648.
  16. "Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia."
    Wallis G.A., Rash B., Sykes B., Bonaventure J., Maroteaux P., Zabel B., Wynne-Davies R., Grant M.E., Boot-Handford R.P.
    J. Med. Genet. 33:450-457(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SMCD PRO-600.
  17. "Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia."
    Ikegawa S., Nakamura K., Nagano A., Haga N., Nakamura Y.
    Hum. Mutat. 9:131-135(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SMCD GLU-18 AND ARG-18.
  18. "Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia."
    Ikegawa S., Nishimura G., Nagai T., Hasegawa T., Ohashi H., Nakamura Y.
    Am. J. Hum. Genet. 63:1659-1662(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SPONDYLOMETAPHYSEAL DYSPLASIA JAPANESE TYPE GLU-595.
  19. "Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia."
    Sawai H., Ida A., Nakata Y., Koyama K.
    J. Hum. Genet. 43:259-261(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SMCD CYS-597.
  20. "Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia."
    Bateman J.F., Wilson R., Freddi S., Lamande S.R., Savarirayan R.
    Hum. Mutat. 25:525-534(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.

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: September 3, 2014
This is version 145 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

External Data

Dasty 3

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