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Guidelines

MIRAGE

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

Summary

Gene Symbol

HPS4

Organism

Homo sapiens (human)

External Links

NCBI Gene

89781

PubChem

89781

Alliance of Genome Resources

HGNC:15844

JoGo

HPS4

TogoVar

HPS4

Annotation

Keyword

Alternative splicing
Guanine-nucleotide releasing factor
Hermansky-Pudlak syndrome
Phosphoprotein
Proteomics identification
Reference proteome

Proteins

Displaying **all 7** entries
UniProt	Protein Name
A0A8V8TMY3
A0A8V8TN06
F1LLU8
Q9NQG7	Hermansky-Pudlak syndrome 4 protein Light-ear protein homolog
Q6P1K3
A0A8V8TPB3
A8K2E6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
protein targeting	IDA	12663659
protein targeting	IBA
lysosome organization	IDA	12663659
blood coagulation	IEA
hemostasis	TAS	11836498

GO Hierarchy

biological process

cellular process [inference]

vesicle-mediated transport

cellular developmental process [inference]

cell differentiation [inference]

pigment cell differentiation [inference]

melanocyte differentiation

cellular localization [inference]

intracellular transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

vesicle organization [inference]

secretory granule organization [inference]

platelet dense granule organization

pigment granule organization [inference]

melanosome organization [inference]

melanosome assembly

organelle assembly [inference]

melanosome assembly

cellular component assembly [inference]

organelle assembly [inference]

melanosome assembly

multicellular organismal process [inference]

coagulation [inference]

blood coagulation

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

pigment cell differentiation [inference]

melanocyte differentiation

localization [inference]

establishment of localization [inference]

transport [inference]

establishment of protein localization [inference]

protein targeting

establishment of localization in cell [inference]

intracellular transport

cellular localization [inference]

intracellular transport

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of developmental pigmentation [inference]

positive regulation of eye pigmentation

regulation of pigmentation [inference]

regulation of developmental pigmentation [inference]

regulation of eye pigmentation [inference]

positive regulation of eye pigmentation

positive regulation of developmental pigmentation [inference]

positive regulation of eye pigmentation

regulation of biological quality [inference]

regulation of protein stability [inference]

protein stabilization

regulation of body fluid levels [inference]

blood coagulation

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
cytoplasm	IDA	12756248
lysosome	IDA	12663659
lysosomal membrane	IBA
cytosol	TAS
membrane	IDA	12756248

GO Hierarchy

cellular component

protein-containing complex [inference]

intracellular protein-containing complex [inference]

BLOC complex [inference]

BLOC-3 complex

cellular anatomical structure [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

pigment granule [inference]

melanosome

secretory vesicle [inference]

secretory granule [inference]

platelet dense granule

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle

pigment granule [inference]

melanosome

secretory vesicle [inference]

secretory granule [inference]

platelet dense granule

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle

pigment granule [inference]

melanosome

secretory vesicle [inference]

secretory granule [inference]

platelet dense granule

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
guanyl-nucleotide exchange factor activity	IDA	23084991
guanyl-nucleotide exchange factor activity	IBA
protein binding	IPI	12756248 20048159 23084991
small GTPase binding	IBA
small GTPase binding	IPI	20048159

GO Hierarchy

molecular function

binding [inference]

protein binding

enzyme binding [inference]

GTPase binding [inference]

small GTPase binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity

protein homodimerization activity

molecular function regulator activity [inference]

enzyme regulator activity [inference]

nucleoside-triphosphatase regulator activity [inference]

GTPase regulator activity [inference]

guanyl-nucleotide exchange factor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

hermansky-pudlak syndrome 4

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
melanosome assembly
protein targeting

Displaying **all 3** entries
InterPro
BLOC-3 complex member HPS4
CCZ1/INTU/HPS4, third Longin domain
CCZ1/INTU/HSP4, first Longin domain

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0060542	Hermansky-Pudlak syndrome 4	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	Alliance of Genome Resources
DOID:5419	schizophrenia	Alliance of Genome Resources

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.5.0

Last updated: April 6, 2026