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Cancer Genome Characterization Initiative

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


Gene Info

Gene Information For:Hs. NPC1, Niemann-Pick disease, type C1
Sequence ID:NM_000271
RefSeqGene ID:NG_012795
Entrez Gene ID:4864
Ensembl ID:ENSG00000141458

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, kidney, liver, lung, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, placenta, pooled tissue, prostate, retina, skin, soft tissue, spleen, stem cell, stomach, 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
NIEMANN-PICK DISEASE, TYPE C1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:18q11.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:18: 21111464 - 21166342

 Exon Info From UCSC:
NM_000271

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
30340517Full LengthBC063302Niemann-Pick disease, type C1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000262  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000271 NP_000262 O15118 Patched

Related Sequences

 
mRNAGenPeptSwissProt
AF002020 AAB63982 O15118
BC063302 AAH63302 O15118
AB209048 BAD92285 Q59GR1
AK293779 BAG57194 B4DET3
AK295715 BAG58559 B4DIP7

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 NPC1 NP_000262 M.musculus Npc1 18145 Gene Info NP_032746 86
R.norvegicus Cdig2 266732   XP_002728567 86
A.gambiae AgaP_AGAP008137 1277820   XP_317322 47
D.melanogaster Npc1a 34358   NP_609357 47
A.thaliana AT4G38350 829992   NP_001190953 40
A.thaliana AT1G42470 840851   NP_174975 40
N.crassa NCU04090 3872233   XP_956086 38
S.cerevisiae NCR1 856101   NP_015319 37

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