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

Cytoband

q24

Chromosome location (bp)

149129584 - 149173732

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163755 (version 78.38)

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
 
 
 
 
 

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
Show all »
Show » Show » 1004 113.7 No 1
HPS3-003 ENSP00000418230
ENST00000460120
G5E9V4
Show all »
Show » 839 94.8 No 0