We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Fields »
 

Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
ABOUT
HELP
BLOG
  • THE HUMAN PROTEOME
  • THE HUMAN TISSUES
  • THE HUMAN CELL
  • HUMAN PATHOLOGY
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
    • NEWS
    • BLOG
    • EVENTS
    • PRESS ROOM
    • LEARN
    • DICTIONARY
    • METHODS
    • CELL LINES
  • THE PROJECT
  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • PUBLICATION DATA
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • LINKS
  • CONTACT
  • TECHNICAL DATA
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • DOWNLOADABLE DATA
  • HELP & FAQ
  • LICENCE & CITATION
  • PRIVACY STATEMENT
  • RELEASE HISTORY
HPS3
  • TISSUE

  • CELL

  • PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General cytoplasmic expression with a granular pattern.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Reliability score

Approved based on 1 antibody.
HPA046281
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

HPS3 (HGNC Symbol)

Synonyms

BLOC2S1, 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. [provided by RefSeq, Apr 2015]

Chromosome

3

Cytoband

q24

Chromosome location (bp)

149129584 - 149173732

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163755 (version 83.38)

Entrez gene

84343

UniProt

Q969F9 (UniProt - Evidence at protein level)

neXtProt

NX_Q969F9

Antibodypedia

HPS3 antibodies

PROTEIN BROWSER

HPS3-001
HPS3-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HPS3-001
ENSP00000296051
ENST00000296051
Q969F9 [Direct mapping]
Hermansky-Pudlak syndrome 3 protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006996 [organelle organization]
GO:0031084 [BLOC-2 complex]
GO:0043473 [pigmentation]
Show all
1004 aa
113.7 kDa
No 1
HPS3-003
ENSP00000418230
ENST00000460120
G5E9V4 [Direct mapping]
Hermansky-Pudlak syndrome 3 protein; Hermansky-Pudlak syndrome 3, isoform CRA_c
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
839 aa
94.8 kDa
No 0

Contact

  • BLOG
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • DOWNLOADABLE DATA

The Human Protein Atlas

  • ANTIBODY AVAILABILITY
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.