COL27A1 (collagen type XXVII alpha 1 chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85301
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XXVII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL27A1
Synonyms (NCBI Gene) Gene synonyms aliases
STLS
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs5900078 C>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs140950220 G>C Pathogenic Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs766405509 G>C Likely-pathogenic Intron variant, splice donor variant, genic downstream transcript variant
rs1401322428 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1554787366 T>- Pathogenic Non coding transcript variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT025143 hsa-miR-181a-5p Microarray 17612493
MIRT040778 hsa-miR-18a-3p CLASH 23622248
MIRT619565 hsa-miR-6757-5p HITS-CLIP 23824327
MIRT619564 hsa-miR-135a-3p HITS-CLIP 23824327
MIRT619563 hsa-miR-1290 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IBA
GO:0003431 Process Growth plate cartilage chondrocyte development IEA
GO:0005201 Function Extracellular matrix structural constituent IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608461 22986 ENSG00000196739
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8IZC6
Protein name Collagen alpha-1(XXVII) chain
Protein function Plays a role during the calcification of cartilage and the transition of cartilage to bone.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 624 → 685 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 681 → 746 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 823 → 898 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 873 → 938 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 892 → 954 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 922 → 1007 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1075 → 1145 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1170 → 1247 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1225 → 1289 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1279 → 1339 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1338 → 1399 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1508 → 1583 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1562 → 1623 Collagen triple helix repeat (20 copies) Repeat
PF01410 COLFI 1658 → 1744 Fibrillar collagen C-terminal domain Family
PF01410 COLFI 1737 → 1859 Fibrillar collagen C-terminal domain Family
Sequence 
MGAGSARGARGTAAAAAARGGGFLFSWILVSFACHLASTQGAPEDVDILQRLGLSWTKAG
SPAPPGVIPFQSGFIFTQRARLQAPTGTVIPAALGTELALVLSLCSHRVNHAFLFAVRSQ
KRKLQLGLQFLPGKTVVHLGSRRSVAFDLDMHDGRWHHLALELRGRTVTLVTACGQRRVP
VLLPFHRDPALDPGGSFLFGKMNPHAVQFEGALCQFSIYPVTQVAHNYCTHLRKQCGQAD
TYQSPLGPLFSQDSGRPFTFQSDLALLGLENLTTATPALGSLPAGRGPRGTVAPATPTKP
QRTSPTNPHQHMAVGGPAQTPLLPAKLSASNALDPMLPASVGGSTRTPRPAAAQPSQKIT
ATKIPKSLPTKPSAPSTSIVPIKSPHPTQKTAPSSFTKSALPTQKQVPPTSRPVPARVSR
PAEKPIQRNPGMPRPPPPSTRPLPPTTSSSKKPIPTLARTEAKITSHASKPASARTSTHK
PPPFTALSSSPAPTPGSTRSTRPPATMVPPTSGTSTPRTAPAVPTPGSAPTGSKKPIGSE
ASKKAGPKSSPRKPVPLRPGKAARDVPLSDLTTRPSPRQPQPSQQTTPALVLAPAQFLSS
SPRPTSSGYSIFHLAGSTPFPLLMGPPGPKGDCGLPGPPGLPGLPGIPGARGPRGPPGPY
GNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPGPPGRKGHKGYPGPAGHP
GEQGQPGPEGSPGAKGYPGRQGLPGPVGDPGPKGSRGYIGLPGLFGLPGSDGERGLPGVP
GKRGKMGMPGFPGVFGERGPPGLDGNPGELGLPGPPGVPGLIGDLGVLGPIGYPGPKGMK
GLMGSVGEPGLKGDKGEQGVPGVSGDPGFQGDKGSQGLPGFPGARGKPGPLGKVGDKGSI
GFPGPPGPEGFPGDIGPPGDNGPEGMKGKPGARGLPGPRGQLGPEGDEGPMGPPGAPGLE
GQPGRKGFPGRPGLDGVKGEPGDPGRPGPVGEQGFMGFIGLVGEPGIVGEKGDRGMMGPP
GVPGPKGSMGHPGMPGGMGTPGEPGPQGPPGSRGPPGMRGAKGRRGPRGPDGPAGEQGSR
GLKGPPGPQGRPGRPGQQGVAGERGHLGSRGFPGIPGPSGPPGTKGLPGEPGPQGPQGPI
GPPGEMGPKGPPGAVGEPGLPGEAGMKGDLGPLGTPGEQGLIGQRGEPGLEGDSGPMGPD
GLKGDRGDPGPDGEHGEKGQEGLMGEDGPPGPPGVTGVRGPEGKSGKQGEKGRTGAKGAK
GYQGQLGEMGVPGDPGPPGTPGPKGSRGSLGPTGAPGRMGAQGEPGLAGYDGHKGIVGPL
GPPGPKGEKGEQGEDGKAEGPPGPPGDRGPVGDRGDRGEPGDPGYPGQEGVQGLRGKPGQ
QGQPGHPGPRGWPGPKGSKGAEGPKGKQGKAGAPGRRGVQGLQGLPGPRGVVGRQGLEGI
AGPDGLPGRDGQAGQQGEQGDDGDPGPMGPAGKRGNPGVAGLPGAQGPPGFKGESGLPGQ
LGPPGKRGTEGRTGLPGNQGEPGSKGQPGDSGEMGFPGMAGLFGPKGPPGDIGFKGIQGP
RGPPGLMGKEGIVGPLGILGPSGLPGPKGDKGSRGDWGLQGPRGPPGPRGRPGPPGPPGG
PIQLQQDDLGAAFQTWMDTSGALRPESYSYPDRLVLDQGGEIFKTLHYLSNLIQSIKTPL
GTKENPARVCRDLMDCEQKMVDGTYWVDPNLGCSSDTIEVSCNFTHGGQTCLKPITASKV
EFAISRVQMNFLHLLSSEVTQHITIHCLNMTVWQEGTGQTPAKQAVRFRAWNGQIFEAGG
QFRPEVSMDGCKVQDGRWHQTLFTFRTQDPQQLPIISVDNLPPASSGKQYRLEVGPACFL
Sequence length 1860
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytoskeleton in muscle cells
Protein digestion and absorption 		  Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
MET activates PTK2 signaling
Collagen chain trimerization
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA 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
Steel Syndrome steel syndrome rs140950220, rs1401322428, rs1554787559, rs1554821679, rs1588550383, rs5900078, rs1829064231, rs1830954329 N/A
Show/Hide Unknown Diseases (3)
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
Diabetes Type 2 diabetes N/A N/A GWAS
Osteoarthritis Of Hip Osteoarthritis of the hip or knee (with total joint replacement) N/A N/A GWAS
Tourette Syndrome Tourette syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anophthalmos Associate 31913554
Cartilage Diseases Associate 35581901
Collagen Diseases Associate 28895531
Coloboma Associate 31913554
Colorectal Neoplasms Associate 29547645
Eye Abnormalities Associate 31913554
Funnel Chest Associate 35581901
Genetic Diseases Inborn Associate 28895531
Growth Disorders Associate 28895531
Hearing Loss Associate 31913554