COL10A1 (collagen type X alpha 1 chain)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1300
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type X alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL10A1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
EPAS1 Activation 20495570
SIRT1 Repression 21337390
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120110 2185 ENSG00000123500
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Metaphyseal Chondrodysplasia metaphyseal chondrodysplasia, schmid type rs111033554, rs111033546, rs111033556, rs1562122372, rs2114276588, rs111033543, rs1582811858, rs111033547, rs111033549, rs111033550, rs111033551, rs111033552, rs111033548, rs111033544, rs111033553
View all (1 more)		 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Myopia Myopia N/A N/A GWAS
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 9258750
Arthritis Psoriatic Associate 32326527
Attention Deficit Disorder with Hyperactivity Associate 27754487
Autism Spectrum Disorder Associate 38421723
Breast Neoplasms Associate 27857161, 30236106, 31292488, 32043519, 35607268, 37893423
Breast Neoplasms Stimulate 33637669, 40004168
Campomelia Cumming type Associate 31856751
Carcinogenesis Associate 32587446, 32623389, 37974070
Carcinoma Intraductal Noninfiltrating Associate 30236106
Cardiomyopathy Hypertrophic Associate 22796508, 26174816, 27428952, 33272318