HPS3

GENE INFORMATION

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Gene name

HPS3 (HGNC Symbol)

Synonyms

SUTAL

Description

Hermansky-Pudlak syndrome 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

3 (Chromosome progress)

Cytoband

q24

Chromosome location (bp)

148847371 - 148891519

Ensembl

ENSG00000163755 (version 73.37)

Entrez gene

84343

UniProt

Q969F9 (UniProt - Evidence at protein level)

neXtProt

NX_Q969F9

Antibodypedia

HPS3 antibodies
 

PROTEIN VIEW

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HPS3-001
 
HPS3-003
 
HPS3-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HPS3-001 ENSP00000296051
ENST00000296051
Q969F9
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Show » Show » 1004 113.7 No 1
HPS3-003 ENSP00000418230
ENST00000460120
G5E9V4
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Show » 839 94.8 No 0
HPS3-005 ENSP00000419824
ENST00000460822
H7C5G2
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266 30 No 0