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UGID:218772     UniGene Hs.404568     Homo sapiens (human)   HPS1
Hermansky-Pudlak syndrome 1 (HPS1)

Human protein-coding gene HPS1. Represented by 404 ESTs from 182 cDNA libraries. Corresponds to 2 reference sequences (different isoforms). [UniGene 218772 - Hs.404568]

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: placenta; brain; testis; mixed; uncharacterized tissue; pancreas; lung; intestine; prostate; mammary gland; skin; stomach; spleen; nerve; blood; kidney; eye; embryonic tissue; vascular; bladder; thyroid; ascites; connective tissue; tonsil; thymus; lymph; lymph node; uterus; cervix; liver; salivary gland; bone; muscle; bone marrow; heart; ovary; adipose tissue
Genomic location specified by transcript mapping, radiation hybrid mapping, genetic mapping or cytogenetic mapping.
Chromosome: 10
Map position: 10q23.1-q23.3
UniSTS entry: Chr 10 RH80341
UniSTS entry: Chr 10 RH47149 [Map Viewer]
UniSTS entry: Chr 10 RH11263
Sequences representing this gene; mRNAs, ESTs, and gene predictions supported by transcribed sequences.

mRNA sequences (10)

NM_182639.2 Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 3, mRNA PA
BX647296.1 Homo sapiens mRNA; cDNA DKFZp781J0736 (from clone DKFZp781J0736) A
NM_000195.3 Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA PA
BC000175.2 Homo sapiens Hermansky-Pudlak syndrome 1, mRNA (cDNA clone IMAGE:2900987), complete cds PA
BC127087.1 Homo sapiens cDNA clone IMAGE:40122737, containing frame-shift errors P
AL833734.1 Homo sapiens mRNA; cDNA DKFZp666K145 (from clone DKFZp666K145) PA
AK295821.1 Homo sapiens cDNA FLJ60577 complete cds, highly similar to Hermansky-Pudlak syndrome 1 protein P
BC002514.2 Homo sapiens Hermansky-Pudlak syndrome 1, mRNA (cDNA clone IMAGE:3140170), partial cds PA
U65676.1 Homo sapiens Hermansky-Pudlak syndrome protein (HPS) mRNA, complete cds P
U96721.1 Homo sapiens alternative Hermansky-Pudlak syndrome associated protein (HPS) mRNA, complete cds PA

EST sequences (10 of 404) [Show all sequences]

AA969804.1 Clone IMAGE:1572701 kidney 3' read A
AA992329.1 Clone IMAGE:1620527 testis 3' read A
AI073349.1 Clone IMAGE:1632340 mammary gland 3' read A
AI091095.1 Clone IMAGE:1690511 mixed 3' read A
AI091137.1 Clone IMAGE:1689838 mixed 3' read A
AI143193.1 Clone IMAGE:1705611 heart 3' read A
CB050923.1 Clone IMAGE:3289278 prostate 3' read
CB050924.1 Clone IMAGE:3289278 prostate 5' read P
AI149581.1 Clone IMAGE:1713994 placenta 3' read A
BX092521.1 Clone IMAGp998N211889_;_IMAGE:767828 mixed P

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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