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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi626Calcium 1Combined sources1 Publication1
Metal bindingi627Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi633Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi634Calcium 1Combined sources1 Publication1
Metal bindingi634Calcium 2; shared with neighboring subunitsCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q03692

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-1(X) chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL10A1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000123500.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2185 COL10A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120110 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q03692

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
1300

MalaCards human disease database

More...
MalaCardsi
COL10A1
MIMi156500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000123500

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
174 Metaphyseal chondrodysplasia, Schmid type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26701

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
COL10A1

Domain mapping of disease mutations (DMDM)

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DMDMi
2506306

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Sequence analysisAdd BLAST18
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000577019 – 680Collagen alpha-1(X) chainAdd BLAST662

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q03692

PeptideAtlas

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PeptideAtlasi
Q03692

PRoteomics IDEntifications database

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PRIDEi
Q03692

ProteomicsDB human proteome resource

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ProteomicsDBi
58218

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q03692

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000123500 Expressed in 117 organ(s), highest expression level in tibia

CleanEx database of gene expression profiles

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CleanExi
HS_COL10A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q03692 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q03692 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA053268

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107697, 13 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1749 Collagen type X trimer

Protein interaction database and analysis system

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IntActi
Q03692, 7 interactors

Molecular INTeraction database

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MINTi
Q03692

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000243222

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1680
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q03692

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q03692

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q03692

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini547 – 680C1qPROSITE-ProRule annotationAdd BLAST134

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni19 – 56Nonhelical region (NC2)Add BLAST38
Regioni57 – 519Triple-helical regionAdd BLAST463
Regioni520 – 680Nonhelical region (NC1)Add BLAST161

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGA1 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154317

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000085653

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108220

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q03692

KEGG Orthology (KO)

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KOi
K19479

Identification of Orthologs from Complete Genome Data

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OMAi
YTKGYLD

Database of Orthologous Groups

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OrthoDBi
EOG091G0L3Y

Database for complete collections of gene phylogenies

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PhylomeDBi
Q03692

TreeFam database of animal gene trees

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TreeFami
TF334029

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.40, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR008983 Tumour_necrosis_fac-like_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 3 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00007 COMPLEMNTC1Q

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00110 C1Q, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49842 SSF49842, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50871 C1Q, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE2F98E53E7882459
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5QPC7Q5QPC7_HUMAN
Collagen alpha-1(X) chain
COL10A1
216Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5QPC8Q5QPC8_HUMAN
Collagen alpha-1(X) chain
COL10A1
51Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS5105.1

Protein sequence database of the Protein Information Resource

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PIRi
S26396 CGHU1D

NCBI Reference Sequences

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RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.520339

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000243222; ENSP00000243222; ENSG00000123500
ENST00000327673; ENSP00000327368; ENSG00000123500

Database of genes from NCBI RefSeq genomes

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GeneIDi
1300

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1300

UCSC genome browser

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UCSCi
uc003pwm.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GR3X-ray2.00A521-680[»]
ProteinModelPortaliQ03692
SMRiQ03692
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107697, 13 interactors
ComplexPortaliCPX-1749 Collagen type X trimer
IntActiQ03692, 7 interactors
MINTiQ03692
STRINGi9606.ENSP00000243222

PTM databases

PhosphoSitePlusiQ03692

Polymorphism and mutation databases

BioMutaiCOL10A1
DMDMi2506306

Proteomic databases

PaxDbiQ03692
PeptideAtlasiQ03692
PRIDEiQ03692
ProteomicsDBi58218

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

Comparative Toxicogenomics Database

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CTDi
1300
DisGeNETi1300
EuPathDBiHostDB:ENSG00000123500.9

GeneCards: human genes, protein and diseases

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GeneCardsi
COL10A1
HGNCiHGNC:2185 COL10A1
HPAiHPA053268
MalaCardsiCOL10A1
MIMi120110 gene
156500 phenotype
neXtProtiNX_Q03692
OpenTargetsiENSG00000123500
Orphaneti174 Metaphyseal chondrodysplasia, Schmid type
PharmGKBiPA26701

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGA1 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000154317
HOGENOMiHOG000085653
HOVERGENiHBG108220
InParanoidiQ03692
KOiK19479
OMAiYTKGYLD
OrthoDBiEOG091G0L3Y
PhylomeDBiQ03692
TreeFamiTF334029

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

Miscellaneous databases

EvolutionaryTraceiQ03692

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Collagen,_type_X,_alpha_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1300

Protein Ontology

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PROi
PR:Q03692

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123500 Expressed in 117 organ(s), highest expression level in tibia
CleanExiHS_COL10A1
ExpressionAtlasiQ03692 baseline and differential
GenevisibleiQ03692 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOAA1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q03692
Secondary accession number(s): A1L4P2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1997
Last modified: December 5, 2018
This is version 186 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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