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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 nameGene Name - the full gene name approved by the HGNC.
Collagen type XXVII alpha 1 chain
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
COL27A1
SynonymsGene synonyms aliases
STLS
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q32
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0003431 Process Growth plate cartilage chondrocyte development IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005576 Component Extracellular region TAS
GO:0005583 Component Fibrillar collagen trimer IEA
GO:0005615 Component Extracellular space IBA 21873635
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 19204719, 15922909, 19414009, 17693149, 17331945, 12714037, 24986830, 20041163, 8001137, 7990924, 12766169, 28276056, 22206015
Scoliosis Scoliosis, unspecified rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Steel syndrome STEEL SYNDROME rs140950220, rs1401322428, rs1554787559, rs1554821679, rs1588550383, rs5900078, rs1829064231, rs1830954329 24986830
Tourette syndrome Gilles de la Tourette syndrome rs193302861, rs191284403, rs267606861 22889924
Unknown
Disease name Disease term dbSNP ID References
Dislocated radial head Congenital dislocation of radial head
Dwarfism Dwarfism
Dysmorphic features Dysmorphic features 7990924, 22206015, 24986830, 17331945, 19204719, 19414009, 8001137, 15922909, 12714037, 20041163, 12766169, 28276056, 17693149

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