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Gene Info

Gene Information For:Hs. COL5A1, Collagen, type V, alpha 1
Sequence ID:NM_000093
RefSeqGene ID:NG_008030
Entrez Gene ID:1289
Ensembl ID:ENSG00000130635

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, peripheral nervous system, placenta, pooled tissue, prostate, retina, skin, soft tissue, spleen, stem cell, stomach, synovium, testis, 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
EHLERS-DANLOS SYNDROME, TYPE ICOL1A1
COL5A2
EHLERS-DANLOS SYNDROME, TYPE II 

Cytogenetic Location (from UniGene)

Cytogenetic Location:9q34.2-q34.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:9: 137582786 - 137736391

 Exon Info From UCSC:
NM_000093

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000084  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000093 NP_000084 P20908 Collagen
COLFI
Laminin_G_2

Related Sequences

 
mRNAGenPeptSwissProt
BC008760 AAH08760 Q96HC0
D90279 BAA14323 P20908
AB209864 BAD93101 Q59EE7
AB371583 BAG48312 B2ZZ86

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 COL5A1 NP_000084 R.norvegicus Col5a1 85490   NP_604447 95
M.musculus Col5a1 12831 Gene Info NP_056549 95

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