COL10A1 (collagen type X alpha 1 chain)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1300
Gene name Collagen type X alpha 1 chain
Gene symbol COL10A1
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6q22.1
Summary This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT017342 hsa-miR-335-5p Microarray 18185580
MIRT437546 hsa-miR-29a-3p Luciferase reporter assay 22745231
MIRT437553 hsa-miR-29b-3p Luciferase reporter assay 22745231
MIRT437559 hsa-miR-29c-3p Luciferase reporter assay 22745231
MIRT437567 hsa-miR-767-5p Luciferase reporter assay 22745231
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
EPAS1 Activation 20495570
SIRT1 Repression 21337390
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 8554571
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120110 2185 ENSG00000123500
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03692
Protein name Collagen alpha-1(X) chain
Protein function Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
PDB 1GR3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 104 → 154 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 298 → 359 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 464 → 524 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 553 → 677 C1q domain Domain
Sequence 
MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQG
TPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGER
GPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPG
VPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPGVGKRGENGVPGQPGIKGDRGFP
GEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGTKGLPGAPGIAGPPGPPGFGK
PGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPPGNMGPQGPKGIPGSHGLPGP
KGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGL
PGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGI
ATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLV
SANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFS
YHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESN
GLYSSEYVHSSFSGFLVAPM
Sequence length 680
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Non-integrin membrane-ECM interactions
Collagen chain trimerization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
COL10A1-related disorder Likely pathogenic rs2534085175 RCV003414336
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metaphyseal chondrodysplasia, Schmid type Pathogenic; Likely pathogenic rs1779064401, rs2114276588, rs779802963, rs2114278703, rs2114277685, rs2114276916, rs2114276983, rs2114277790, rs2114278741, rs2534083958, rs2534084357, rs2534084287, rs2534084154, rs111033544, rs111033545
View all (16 more)		 RCV002259553
RCV001806158
RCV005635205
RCV001808945
RCV002259555
View all (30 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARPAL TUNNEL SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (86)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia BEFREE 1329505
★★★★★
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia Pubtator 9258750 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19949890
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21665990
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 23455636
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASDB_DG 23455636
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 32326527 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 27754487 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 38421723 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28977887
★★★★★
★☆☆☆☆
Found in Text Mining only