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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. COL6A1, collagen, type VI, alpha 1
Sequence ID:NM_001848
RefSeqGene ID:NG_008674
Entrez Gene ID:1291
Ensembl ID:ENSG00000142156

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
BETHLEM MYOPATHYCOL6A2
COL6A3
OSSIFICATION OF POSTERIOR LONGITUDINAL LIGAMENT OF SPINEENPP1
ULLRICH CONGENITAL MUSCULAR DYSTROPHYCOL6A2
COL6A3

Cytogenetic Location (from UniGene)

Cytogenetic Location:21q22.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:21: 47401683 - 47423914

 Exon Info From UCSC:
NM_001848

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
6598940Full LengthBC052575collagen, type VI, alpha 1
3506644IncompleteBC005159collagen, type VI, alpha 1
4178997IncompleteBC022236collagen, type VI, alpha 1
5217429IncompleteBC032821collagen, type VI, alpha 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001839  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001848 NP_001839 P12109 VWA
Collagen

Related Sequences

 
mRNAGenPeptSwissProt
M27447 AAA52055 P12109
BC005159 AAH05159 P12109
BC022236 AAH22236 Q8TBN2
BC032821 AAH32821 Q05BT9
BC052575 AAH52575 P12109
AK298968 BAG61063 B4DQV1
AK299396 BAG61380 B4DRR8
X06194 CAA29555 P12109
X15879 CAA33888 P12109
X15880 CAA33889 P12109

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens COL6A1 NP_001839 M.musculus Col6a1 12833 Gene Info NP_034063 90
R.norvegicus Col6a1 294337   XP_215375 90

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)