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UGID:3547879     UniGene Hs.715623     Homo sapiens (human)   NPC1
Niemann-Pick disease, type C1 (NPC1)

Human protein-coding gene NPC1. Represented by 417 ESTs from 212 cDNA libraries. Corresponds to reference sequence NM_000271.4. [UniGene 3547879 - Hs.715623]

Comparison of cluster transcripts with RefSeq proteins. The alignments can suggest function of the cluster.
Best Hits and Hits from model organismsSpeciesId(%)Len(aa)
NP_000262.2 NPC1 gene product H. sapiens 100.0 1277
XP_001155285.1 PREDICTED: niemann-Pick C1 protein isoform 4 P. troglodytes 99.6 1276
NP_032746.2 Npc1 gene product M. musculus 89.9 1276
XP_001919958.3 PREDICTED: Niemann-Pick C1 protein D. rerio 77.2 1259
NP_001108247.1 uncharacterized protein LOC100137621 X. laevis 58.4 243
NP_195548.6 Patched family protein A. thaliana 52.0 739
NP_608417.2 Niemann-Pick type C-1b D. melanogaster 51.4 747
XP_956086.1 hypothetical protein NCU04090 N. crassa 48.2 674
Other hits (2 of 53) [Show all]SpeciesId(%)Len(aa)
XP_003914281.1 PREDICTED: niemann-Pick C1 protein P. anubis 98.9 1276
XP_002800934.1 PREDICTED: Niemann-Pick C1 protein-like M. mulatta 98.5 1256

Tissues and development stages from this gene's sequences survey gene expression. Links to other NCBI expression resources.
EST Profile: Approximate expression patterns inferred from EST sources.
[Show more entries with profiles like this]
GEO Profiles: Experimental gene expression data (Gene Expression Omnibus).
cDNA Sources: brain; uncharacterized tissue; testis; mixed; adrenal gland; lung; stomach; bone marrow; embryonic tissue; placenta; mammary gland; liver; eye; kidney; prostate; uterus; vascular; ovary; blood; pharynx; spleen; bladder; trachea; bone; intestine; connective tissue; skin; mouth; thyroid; esophagus; ear; larynx; pancreas; thymus; muscle; epididymis; amniotic fluid; ganglia; cervix; parathyroid; ascites; adipose tissue
Genomic location specified by transcript mapping, radiation hybrid mapping, genetic mapping or cytogenetic mapping.
Chromosome: 18
Map position: 18q11.2
UniSTS entry: Chr 18 WI-14881 [Map Viewer]
UniSTS entry: Chr 18 NPC1_s22
UniSTS entry: Chr 15 Rnu2
Sequences representing this gene; mRNAs, ESTs, and gene predictions supported by transcribed sequences.

mRNA sequences (7)

NM_000271.4 Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA PA
BC063302.1 Homo sapiens Niemann-Pick disease, type C1, mRNA (cDNA clone MGC:71703 IMAGE:30340517), complete cds PA
AB209048.1 Homo sapiens mRNA for Niemann-Pick disease, type C1 variant protein P
AK308491.1 Homo sapiens cDNA, FLJ98532
AK293779.1 Homo sapiens cDNA FLJ51802 complete cds, highly similar to Niemann-Pick C1 protein precursor P
AK295715.1 Homo sapiens cDNA FLJ57114 complete cds, highly similar to Niemann-Pick C1 protein precursor P
AF002020.1 Homo sapiens Niemann-Pick C disease protein (NPC1) mRNA, complete cds PA

EST sequences (10 of 417) [Show all sequences]

AI001914.1 Clone IMAGE:1619437 testis 3' read A
AI017116.1 Clone IMAGE:1639176 testis 3' read A
AI038269.1 Clone IMAGE:1672660 mixed 3' read
AI056380.1 Clone IMAGE:1669080 brain 3' read A
AI081627.1 Clone IMAGE:1652849 mixed 3' read
AI081629.1 Clone IMAGE:1652853 mixed 3' read
R21657.1 Clone IMAGE:130225 placenta 5' read P
AI126104.1 Clone IMAGE:1713465 placenta 3' read A
BX115657.1 Clone IMAGp998K211018_;_IMAGE:433292 mixed
BX118271.1 Clone IMAGp998G192008_;_IMAGE:813354 mixed

Key to Symbols

P Has similarity to known Proteins (after translation)
A Contains a poly-Adenylation signal
S Sequence is a Suboptimal member of this cluster
M Clone is putatively CDS-complete by MGC criteria

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