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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
COL6A3 1293 collagen, type VI, alpha 3  2- 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
26338966   2015Cell line : CRC cell

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Oncomine analyses and tissue-microarray-immunohistochemistry,Western blotting,Liquid chromatograph-mass spectrometry (LC-MS)Up-regulation26.9 foldCirculating plasma COL6A3 in CRC patients was upregulated significantly comparing with healthy peoples.


Gene Details



NC_000002.11 (238232655..238322850, complement)

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Gene Type protein coding
Gene Family Collagens
Description This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]  
Chromosome 2
Location 2q37
Start 238232655  
End 238322850  
Strand -  
Gene Sequence

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Length 90196  
OMIM ID 120250   
HGNC ID HGNC:2213   
Unigene ID Hs.233240   
Ensembl ID ENSG00000163359   
PharmGKB ID PA26729   

mRNA Information


mRNA ID NM_057166.4
Exon join(164..418,17524..17644,32872..33456,37027..37599, 39351..39959,42034..42639,45194..45808,47085..47684, 48336..48673,49943..50021,50973..51118,52540..52632, 53197..53250,54212..54283,54983..55009,55121..55165, 55283..55336,55788..55850,56489..56554,56980..57033, 59437..59472,60968..61030,61787..61849,63179..63241, 64162..64224,65708..65758,65987..66022,66502..66564, 67806..67868,69158..69190,69277..69313,69419..69430, 69528..70021,72210..72306,73221..73919,75254..75356, 77839..78236,79482..79745,80823..80921,88647..88811, 89557..90359)  
mRNA Sequence

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Length 8778  



CDS Information


   
Location 286..7998
CDS Sequence

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CCDS ID CCDS33409.1



Protein Information


      
Protein IDNP_476507.3
Protein Namecollagen, type VI, alpha 3
Molecular Wt. (Da)0
Protein Sequence

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Length 2570  
Uniprot IDQ96IZ0
Ensembl Protein ID ENSP00000328088  



Post-translational Modification Information (Source : HPRD)


Residue Type site
YPhosphorylation3142
YPhosphorylation2535
YPhosphorylation2936

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

No matching records from HPRD source could be found.

Pathway Information


                        
Pathway Name Pathway ID
ECM-receptor interaction hsa04512
Focal adhesion hsa04510
PI3K-Akt signaling pathway hsa04151
Protein digestion and absorption hsa04974


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd014811435-1599  vWA_collagen_alpha3-VI-like
cl000571435-1599  vWFA superfamily
cd01481444-608  vWA_collagen_alpha3-VI-like
cl00057444-608  vWFA superfamily
cd01481638-802  vWA_collagen_alpha3-VI-like
cl00057638-802  vWFA superfamily
cd014811232-1394  vWA_collagen_alpha3-VI-like
cl000571232-1394  vWFA superfamily
cd001093110-3162  KU
cl001013110-3162  KU superfamily
cd014502403-2543  vWFA_subfamily_ECM
cl000572403-2543  vWFA superfamily
cd014502618-2795  vWFA_subfamily_ECM
cl000572618-2795  vWFA superfamily
cd000632993-3061  FN3
cl215222993-3061  FN3 superfamily
cd014811028-1191  vWA_collagen_alpha3-VI-like
cl000571028-1191  vWFA superfamily
cd0148238-203  vWA_collagen_alphaI-XII-like
cl0005738-203  vWFA superfamily
cd0147238-203  vWA_collagen
cd01481241-405  vWA_collagen_alpha3-VI-like
cl00057241-405  vWFA superfamily
cd014721435-1599  vWA_collagen
cd01472444-608  vWA_collagen
cd014721232-1394  vWA_collagen
cd01472638-802  vWA_collagen
cd01481836-999  vWA_collagen_alpha3-VI-like
cl00057836-999  vWFA superfamily
cd01472241-405  vWA_collagen
cd014721028-1182  vWA_collagen
cd01450639-798  vWFA_subfamily_ECM
pfam0009239-213  VWA
pfam00092639-812  VWA
cd01482445-608  vWA_collagen_alphaI-XII-like
cd0145038-198  vWFA_subfamily_ECM
cd01450445-600  vWFA_subfamily_ECM
cd0148138-192  vWA_collagen_alpha3-VI-like
cd01482241-405  vWA_collagen_alphaI-XII-like
cd01482639-802  vWA_collagen_alphaI-XII-like
cd014821435-1599  vWA_collagen_alphaI-XII-like
cd01472836-990  vWA_collagen
cd014501233-1389  vWFA_subfamily_ECM
cd014501435-1590  vWFA_subfamily_ECM
pfam000921436-1609  VWA
smart00327639-797  VWA
cd014821638-1801  vWA_collagen_alphaI-XII-like
cl000571638-1801  vWFA superfamily
smart0032739-210  VWA
smart003271233-1400  VWA
pfam00092445-612  VWA
cd014501029-1183  vWFA_subfamily_ECM
cd0147536-213  vWA_Matrilin
cd014821233-1394  vWA_collagen_alphaI-XII-like
pfam000921029-1201  VWA
cd014821029-1183  vWA_collagen_alphaI-XII-like
smart003271436-1605  VWA
smart00327445-617  VWA
cd014811638-1799  vWA_collagen_alpha3-VI-like
cd014721638-1805  vWA_collagen
pfam000921233-1404  VWA
pfam00092242-415  VWA
pfam000921639-1812  VWA
cd01450241-397  vWFA_subfamily_ECM
smart003271029-1201  VWA
cd014501638-1791  vWFA_subfamily_ECM
smart00327242-415  VWA
cd01450837-990  vWFA_subfamily_ECM
smart003271639-1812  VWA
cd01475639-812  vWA_Matrilin
cd014751434-1613  vWA_Matrilin
cd01475445-596  vWA_Matrilin
pfam00092837-990  VWA
cd0146939-209  vWA_integrins_alpha_subunit
smart00327837-992  VWA
cd01482837-991  vWA_collagen_alphaI-XII-like
cd014751029-1178  vWA_Matrilin
cd00198638-790  vWFA
cd014751233-1404  vWA_Matrilin
cd0019838-198  vWFA
cd014751636-1791  vWA_Matrilin
cd014691436-1605  vWA_integrins_alpha_subunit
cd014761435-1595  VWA_integrin_invertebrates
cd01475241-415  vWA_Matrilin
cd001981232-1391  vWFA
smart001313110-3162  KU
pfam000143111-3162  Kunitz_BPTI
pfam000922619-2810  VWA
cd01469639-805  vWA_integrins_alpha_subunit
cd01469445-595  vWA_integrins_alpha_subunit
cd00198241-402  vWFA
cd014761028-1158  VWA_integrin_invertebrates
cd014691233-1400  vWA_integrins_alpha_subunit
cd01469242-411  vWA_integrins_alpha_subunit
cd001981435-1590  vWFA
cd014691639-1808  vWA_integrins_alpha_subunit
cd01471639-806  vWA_micronemal_protein
cd014691029-1183  vWA_integrins_alpha_subunit
cd00198444-596  vWFA
cd0147638-189  VWA_integrin_invertebrates
smart003272403-2578  VWA
cd001981029-1179  vWFA
cd01476445-605  VWA_integrin_invertebrates
smart003272619-2808  VWA
cd014761233-1389  VWA_integrin_invertebrates
cd01475837-990  vWA_Matrilin
cd001981638-1796  vWFA
pfam013912314-2371  Collagen
cl229492314-2371  Collagen superfamily
pfam000922403-2581  VWA
pfam013912311-2370  Collagen
pfam013912308-2366  Collagen
cd01476639-793  VWA_integrin_invertebrates
pfam013912302-2361  Collagen
cd01476241-401  VWA_integrin_invertebrates
cd0147139-177  vWA_micronemal_protein
cd014752618-2803  vWA_Matrilin
cd00198836-987  vWFA
pfam013912110-2172  Collagen
cl229492110-2172  Collagen superfamily
pfam013912104-2162  Collagen
cd014801029-1165  vWA_collagen_alpha_1-VI-type
pfam013912270-2338  Collagen
cl229492270-2338  Collagen superfamily
cd01480639-805  vWA_collagen_alpha_1-VI-type
cd014692618-2809  vWA_integrins_alpha_subunit
cd0148037-208  vWA_collagen_alpha_1-VI-type
pfam013912086-2144  Collagen
pfam013912095-2152  Collagen
cd014711029-1168  vWA_micronemal_protein
pfam013912140-2196  Collagen
cd014711436-1574  vWA_micronemal_protein
pfam013912089-2148  Collagen
cd01480445-589  vWA_collagen_alpha_1-VI-type
cd014801233-1402  vWA_collagen_alpha_1-VI-type
cd01469837-978  vWA_integrins_alpha_subunit
pfam013912083-2142  Collagen
cd014801434-1606  vWA_collagen_alpha_1-VI-type
cd01471445-583  vWA_micronemal_protein
cd01476837-986  VWA_integrin_invertebrates
cd014722403-2543  vWA_collagen
pfam013912080-2133  Collagen
cl229492080-2133  Collagen superfamily
cd001982618-2795  vWFA
cd014761638-1797  VWA_integrin_invertebrates
cd014762619-2795  VWA_integrin_invertebrates
cd014722618-2756  vWA_collagen
cd014812619-2794  vWA_collagen_alpha3-VI-like
pfam013912098-2157  Collagen
smart003271838-1994  VWA
cl000571838-1994  vWFA superfamily
cd01480241-358  vWA_collagen_alpha_1-VI-type
cd014812405-2541  vWA_collagen_alpha3-VI-like
cd01471242-363  vWA_micronemal_protein
pfam1351939-191  VWA_2
cd014711639-1778  vWA_micronemal_protein
cd01474639-817  vWA_ATR
cd001982403-2560  vWFA
pfam013912267-2329  Collagen
pfam13519639-814  VWA_2
pfam013912038-2108  Collagen
cd014711233-1350  vWA_micronemal_protein
cd014741230-1416  vWA_ATR
cd01473639-790  vWA_CTRP
cd01480837-958  vWA_collagen_alpha_1-VI-type
cd014741434-1619  vWA_ATR
pfam013912183-2292  Collagen
cl229492183-2292  Collagen superfamily
cd014822619-2799  vWA_collagen_alphaI-XII-like
cd014801638-1808  vWA_collagen_alpha_1-VI-type
pfam013912168-2227  Collagen
pfam013912341-2373  Collagen
cd014501837-1991  vWFA_subfamily_ECM
pfam013912335-2373  Collagen
pfam135191233-1370  VWA_2
pfam13519242-400  VWA_2
cd01465642-790  vWA_subgroup
cd014752400-2539  vWA_Matrilin
smart000602993-3061  FN3
cd014651235-1384  vWA_subgroup
cd014741638-1813  vWA_ATR
pfam13519445-617  VWA_2
cd014802618-2819  vWA_collagen_alpha_1-VI-type
cd014822401-2538  vWA_collagen_alphaI-XII-like
cd014802400-2477  vWA_collagen_alpha_1-VI-type
cd01470639-755  vWA_complement_factors
cd0147437-215  vWA_ATR
pfam137681435-1564  VWA_3
cd0147039-208  vWA_complement_factors
cd014651435-1575  vWA_subgroup
pfam000412993-3059  fn3
PTZ001462270-2328  PTZ00146
cl171732270-2328  AdoMet_MTases superfamily
cd014692401-2499  vWA_integrins_alpha_subunit
cd01473242-402  vWA_CTRP
cd01471837-955  vWA_micronemal_protein
pfam137681028-1155  VWA_3
PTZ001462297-2352  PTZ00146
cl171732297-2352  AdoMet_MTases superfamily
pfam031572056-2371  Glutenin_hmw
PHA031692082-2219  PHA03169
pfam031572038-2360  Glutenin_hmw
pfam031572055-2224  Glutenin_hmw
PHA031692088-2322  PHA03169
PHA031692128-2355  PHA03169
PRK126782089-2175  PRK12678
PHA031692039-2177  PHA03169
pfam031572038-2225  Glutenin_hmw


Ontology Information


   
HPRD ID6167
Molecular ClassExtracellular matrix protein
Molecular FunctionTranscription factor activity (GO:0003700)
Biological ProcessRegulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO