Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. COL1A1, Collagen, type I, alpha 1
Sequence ID:NM_000088
RefSeqGene ID:NG_007400
Entrez Gene ID:1277
Ensembl ID:ENSG00000108821

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, bone, bone marrow, brain, cartilage, cerebrum, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, 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
CAFFEY DISEASE 
EHLERS-DANLOS SYNDROME, TYPE ICOL5A1
COL5A2
EHLERS-DANLOS SYNDROME, TYPE VIIACOL1A2
OI TYPE IICOL1A2
OI TYPE IIICOL1A2
OI TYPE IVCOL1A2
OSTEOGENESIS IMPERFECTA, TYPE I 
OSTEOPOROSISCALCR
COL1A2
IL6
LRP5
PDLIM4
VDR

Cytogenetic Location (from UniGene)

Cytogenetic Location:17q21.33Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:17: 48262677 - 48262803

 Exon Info From UCSC:
NM_000088

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5264710Full LengthBC036531collagen, type I, alpha 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000079  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000088 NP_000079   VWC
Collagen
COLFI

Related Sequences

 
mRNAGenPeptSwissProt
K01228 AAA51995 P02452
M32798 AAA52049 P02452
J00110 AAA52289 P02452
J00111 AAA52290 P02452
J00112 AAA52291 P02452
M36546 AAA60150 P02452
S64596 AAB27856 P02452
BC036531 AAH36531 P02452
J00113 AAN86574 P02452
DQ893571 ABM84497  
EU176569 ABW03370  
JQ236861 AFD28984 H9C5C5
AB209597 BAD92834 P02452
AK297731 BAH12658 B7Z4S2
X06269 CAA29605 P02452
X07884 CAA30731 P02452
Z74615 CAA98968 P02452

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 COL1A1 NP_000079 R.norvegicus Col1a1 29393   NP_445756 93
M.musculus Col1a1 12842 Gene Info NP_031768 92

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