HPS3

GENERAL INFORMATION

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Gene name

HPS3

Gene description

Hermansky-Pudlak syndrome 3

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA046281
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000296051
 
ENST00000460120
 
 
 
 


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