Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and lysosomes []. HPS is common in Puerto Rico, where is mostly caused by mutations in the genes HPS1 or HPS3. Another HPS locus, HPS4 was identified by using mouse models []. It was suggested that HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis [].This family represents BLOC-3 complex member HPS4, a component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 []. |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Suzuki T |
Year: |
2002 |
Journal: |
Nat Genet |
Title: |
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. |
Volume: |
30 |
Issue: |
3 |
Pages: |
321-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oh J |
Year: |
1996 |
Journal: |
Nat Genet |
Title: |
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. |
Volume: |
14 |
Issue: |
3 |
Pages: |
300-6 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
671
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
671
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
671
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
671
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Ohishi Y |
Year: |
2019 |
Journal: |
J Biol Chem |
Title: |
The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis. |
Volume: |
294 |
Issue: |
17 |
Pages: |
6912-6922 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerondopoulos A |
Year: |
2012 |
Journal: |
Curr Biol |
Title: |
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. |
Volume: |
22 |
Issue: |
22 |
Pages: |
2135-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chiang PW |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. |
Volume: |
278 |
Issue: |
22 |
Pages: |
20332-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martina JA |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. |
Volume: |
278 |
Issue: |
31 |
Pages: |
29376-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kloer DP |
Year: |
2010 |
Journal: |
J Biol Chem |
Title: |
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. |
Volume: |
285 |
Issue: |
10 |
Pages: |
7794-804 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nazarian R |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. |
Volume: |
100 |
Issue: |
15 |
Pages: |
8770-5 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Owen FL |
Year: |
1984 |
Journal: |
J Exp Med |
Title: |
Genes for the mouse T cell alloantigens Tpre, Tthy, Tind, and Tsu are closely linked near Igh on chromosome 12. |
Volume: |
159 |
Issue: |
1 |
Pages: |
313-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meisler M |
Year: |
1980 |
Journal: |
Am J Pathol |
Title: |
Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism. |
Volume: |
101 |
Issue: |
3 |
Pages: |
581-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meisler MH |
Year: |
1978 |
Journal: |
J Biol Chem |
Title: |
Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice. |
Volume: |
253 |
Issue: |
9 |
Pages: |
3129-34 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_09 |
|
Specimen Label: |
euxassay_006298_09 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_10 |
|
Specimen Label: |
euxassay_006298_10 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_11 |
|
Specimen Label: |
euxassay_006298_11 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_12 |
|
Specimen Label: |
euxassay_006298_12 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_13 |
|
Specimen Label: |
euxassay_006298_13 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_14 |
|
Specimen Label: |
euxassay_006298_14 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_15 |
|
Specimen Label: |
euxassay_006298_15 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_16 |
|
Specimen Label: |
euxassay_006298_16 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_17 |
|
Specimen Label: |
euxassay_006298_17 |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_18 |
|
Specimen Label: |
euxassay_006298_18 |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_19 |
|
Specimen Label: |
euxassay_006298_19 |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_20 |
|
Specimen Label: |
euxassay_006298_20 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1703623 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_21 |
|
Specimen Label: |
euxassay_006298_21 |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1625523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_11 |
|
Specimen Label: |
euxassay_006298_11 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1625523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_14 |
|
Specimen Label: |
euxassay_006298_14 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1983308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Moderate |
Sex: |
Not Specified |
Emaps: |
EMAPS:1625523 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4825447 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_006298_15 |
|
Specimen Label: |
euxassay_006298_15 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamamoto S |
Year: |
2002 |
Journal: |
J Biochem |
Title: |
Molecular cloning and genomic analysis of mouse glucuronyltransferase involved in biosynthesis of the HNK-1 epitope. |
Volume: |
131 |
Issue: |
3 |
Pages: |
337-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Borowska J |
Year: |
2011 |
Journal: |
J Neurosci |
Title: |
An intrinsic neural oscillator in the degenerating mouse retina. |
Volume: |
31 |
Issue: |
13 |
Pages: |
5000-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang Y |
Year: |
2017 |
Journal: |
Cell Physiol Biochem |
Title: |
Curcumin Delays Retinal Degeneration by Regulating Microglia Activation in the Retina of rd1 Mice. |
Volume: |
44 |
Issue: |
2 |
Pages: |
479-493 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meisler MH |
Year: |
1984 |
Journal: |
J Hered |
Title: |
Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. |
Volume: |
75 |
Issue: |
2 |
Pages: |
103-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Delprato A |
Year: |
2000 |
Journal: |
Exp Cell Res |
Title: |
An established light ear mutant (C57BL/6J-Pdeb(rd1) le) mouse cell line exhibits a block to secretion of lysosomal enzymes. |
Volume: |
256 |
Issue: |
1 |
Pages: |
315-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Marks MS |
Year: |
2012 |
Journal: |
Curr Biol |
Title: |
Organelle biogenesis: en BLOC exchange for RAB32 and RAB38. |
Volume: |
22 |
Issue: |
22 |
Pages: |
R963-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Green MC |
Year: |
1965 |
Journal: |
Mouse News Lett |
Title: |
Three point cross, le, W, Hm. |
Volume: |
32 |
|
Pages: |
46 |
|
•
•
•
•
•
|
Publication |
First Author: |
Morin LP |
Year: |
2011 |
Journal: |
Neuroscience |
Title: |
Separation of function for classical and ganglion cell photoreceptors with respect to circadian rhythm entrainment and induction of photosomnolence. |
Volume: |
199 |
|
Pages: |
213-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen M |
Year: |
2020 |
Journal: |
Science |
Title: |
Itaconate is an effector of a Rab GTPase cell-autonomous host defense pathway against Salmonella. |
Volume: |
369 |
Issue: |
6502 |
Pages: |
450-455 |
|
•
•
•
•
•
|
Publication |
First Author: |
Park H |
Year: |
2013 |
Journal: |
Mol Vis |
Title: |
Retinal degeneration increases susceptibility to myopia in mice. |
Volume: |
19 |
|
Pages: |
2068-79 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lane PW |
Year: |
1967 |
Journal: |
J Hered |
Title: |
Linkage groups 3 and XVII in the mouse and the position of the light-ear locus. |
Volume: |
58 |
Issue: |
1 |
Pages: |
21-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Paigen B |
Year: |
1990 |
Journal: |
Arteriosclerosis |
Title: |
Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. |
Volume: |
10 |
Issue: |
4 |
Pages: |
648-52 |
|
•
•
•
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Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity |
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Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
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Wellcome Trust Sanger Institute |
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MGI Direct Data Submission |
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