| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cohen-Solal KA |
| Year: |
2003 |
| Journal: |
Biochim Biophys Acta |
| Title: |
Identification and characterization of mouse Rab32 by mRNA and protein expression analysis. |
| Volume: |
1651 |
| Issue: |
1-2 |
| Pages: |
68-75 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Aguilar A |
| Year: |
2019 |
| Journal: |
Blood Adv |
| Title: |
Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis. |
| Volume: |
3 |
| Issue: |
15 |
| Pages: |
2368-2380 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Li Y |
| Year: |
2016 |
| Journal: |
Immunity |
| Title: |
Analysis of the Rab GTPase Interactome in Dendritic Cells Reveals Anti-microbial Functions of the Rab32 Complex in Bacterial Containment. |
| Volume: |
44 |
| Issue: |
2 |
| Pages: |
422-37 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Marubashi S |
| Year: |
2016 |
| Journal: |
J Biol Chem |
| Title: |
RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes. |
| Volume: |
291 |
| Issue: |
3 |
| Pages: |
1427-40 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Xie X |
| Year: |
2018 |
| Journal: |
FEBS Open Bio |
| Title: |
Rab32-related antimicrobial pathway is involved in the progression of dextran sodium sulfate-induced colitis. |
| Volume: |
8 |
| Issue: |
10 |
| Pages: |
1658-1668 |
|
•
•
•
•
•
|
| 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: |
Noda K |
| Year: |
2023 |
| Journal: |
J Biol Chem |
| Title: |
Characterization of Rab32- and Rab38-positive lysosome-related organelles in osteoclasts and macrophages. |
| Volume: |
299 |
| Issue: |
10 |
| Pages: |
105191 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tamura K |
| Year: |
2009 |
| Journal: |
Mol Biol Cell |
| Title: |
Varp is a novel Rab32/38-binding protein that regulates Tyrp1 trafficking in melanocytes. |
| Volume: |
20 |
| Issue: |
12 |
| Pages: |
2900-8 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1737328 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875298 |
| Note: |
kidney |
| Specimen Label: |
UC Davis_1875298 |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1737328 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875302 |
| Note: |
kidney |
| Specimen Label: |
UC Davis_1875302 |
| Detected: |
true |
| Specimen Num: |
5 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1737328 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875303 |
| Note: |
kidney |
| Specimen Label: |
UC Davis_1875303 |
| Detected: |
true |
| Specimen Num: |
6 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Absent |
| Sex: |
Male |
| Emaps: |
EMAPS:1868128 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875307 |
| Note: |
vas deferens |
| Specimen Label: |
UC Davis_1875307 |
| Detected: |
false |
| Specimen Num: |
10 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1797228 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875304 |
|
| Specimen Label: |
UC Davis_1875304 |
| Detected: |
true |
| Specimen Num: |
7 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1928728 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875306 |
|
| Specimen Label: |
UC Davis_1875306 |
| Detected: |
true |
| Specimen Num: |
9 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:1885228 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875296 |
|
| Specimen Label: |
UC Davis_1875296 |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Absent |
| Sex: |
Male |
| Emaps: |
EMAPS:1929028 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875305 |
|
| Specimen Label: |
UC Davis_1875305 |
| Detected: |
false |
| Specimen Num: |
8 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:3276428 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875297 |
|
| Specimen Label: |
UC Davis_1875297 |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
|
| Assay Type: |
In situ reporter (knock in) |
| Annotation Date: |
2021-04-16 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:3276428 |
| Pattern: |
Not Specified |
| Stage: |
TS28 |
| Assay Id: |
MGI:6691773 |
| Age: |
postnatal adult |
| Image: |
UC Davis_1875301 |
|
| Specimen Label: |
UC Davis_1875301 |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kirov JV |
| Year: |
2015 |
| Journal: |
PLoS One |
| Title: |
Reporter Gene Silencing in Targeted Mouse Mutants Is Associated with Promoter CpG Island Methylation. |
| Volume: |
10 |
| Issue: |
8 |
| Pages: |
e0134155 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kiyama T |
| Year: |
2018 |
| Journal: |
Mol Neurodegener |
| Title: |
Essential roles of mitochondrial biogenesis regulator Nrf1 in retinal development and homeostasis. |
| Volume: |
13 |
| Issue: |
1 |
| Pages: |
56 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pagliarini DJ |
| Year: |
2008 |
| Journal: |
Cell |
| Title: |
A mitochondrial protein compendium elucidates complex I disease biology. |
| Volume: |
134 |
| Issue: |
1 |
| Pages: |
112-23 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ko MS |
| Year: |
2000 |
| Journal: |
Development |
| Title: |
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. |
| Volume: |
127 |
| Issue: |
8 |
| Pages: |
1737-49 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dickinson ME |
| Year: |
2016 |
| Journal: |
Nature |
| Title: |
High-throughput discovery of novel developmental phenotypes. |
| Volume: |
537 |
| Issue: |
7621 |
| Pages: |
508-514 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Koscielny G |
| Year: |
2014 |
| Journal: |
Nucleic Acids Res |
| Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
| Volume: |
42 |
| Issue: |
Database issue |
| Pages: |
D802-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
International Knockout Mouse Consortium |
| Year: |
2014 |
| Journal: |
Database Download |
| Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wellcome Trust Sanger Institute |
| Year: |
2009 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
| Year: |
2014 |
| Journal: |
Database Release |
| Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
| Year: |
2001 |
|
| Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Carninci P |
| Year: |
2005 |
| Journal: |
Science |
| Title: |
The transcriptional landscape of the mammalian genome. |
| Volume: |
309 |
| Issue: |
5740 |
| Pages: |
1559-63 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kawai J |
| Year: |
2001 |
| Journal: |
Nature |
| Title: |
Functional annotation of a full-length mouse cDNA collection. |
| Volume: |
409 |
| Issue: |
6821 |
| Pages: |
685-90 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Adams DJ |
| Year: |
2024 |
| Journal: |
Nature |
| Title: |
Genetic determinants of micronucleus formation in vivo. |
| Volume: |
627 |
| Issue: |
8002 |
| Pages: |
130-136 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
GemPharmatech |
| Year: |
2020 |
|
| Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Skarnes WC |
| Year: |
2011 |
| Journal: |
Nature |
| Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
| Volume: |
474 |
| Issue: |
7351 |
| Pages: |
337-42 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cyagen Biosciences Inc. |
| Year: |
2022 |
|
| Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
| Year: |
2011 |
|
| Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
| Year: |
2004 |
| Journal: |
Database Release |
| Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Okazaki Y |
| Year: |
2002 |
| Journal: |
Nature |
| Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
| Volume: |
420 |
| Issue: |
6915 |
| Pages: |
563-73 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Diez-Roux G |
| Year: |
2011 |
| Journal: |
PLoS Biol |
| Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
e1000582 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
|
| Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wasmeier C |
| Year: |
2006 |
| Journal: |
J Cell Biol |
| Title: |
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. |
| Volume: |
175 |
| Issue: |
2 |
| Pages: |
271-81 |
|
•
•
•
•
•
|
| 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: |
Bultema JJ |
| Year: |
2013 |
| Journal: |
Small GTPases |
| Title: |
Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous lysosome biogenesis machinery to synthesize specialized lysosome-related organelles. |
| Volume: |
4 |
| Issue: |
1 |
| Pages: |
16-21 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Coppola U |
| Year: |
2016 |
| Journal: |
BMC Evol Biol |
| Title: |
Rab32 and Rab38 genes in chordate pigmentation: an evolutionary perspective. |
| Volume: |
16 |
|
| Pages: |
26 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Alto NM |
| Year: |
2002 |
| Journal: |
J Cell Biol |
| Title: |
Rab32 is an A-kinase anchoring protein and participates in mitochondrial dynamics. |
| Volume: |
158 |
| Issue: |
4 |
| Pages: |
659-68 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Oh J |
| Year: |
1998 |
| Journal: |
Am J Hum Genet |
| Title: |
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. |
| Volume: |
62 |
| Issue: |
3 |
| Pages: |
593-8 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Defects in human HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes [, ].Human HPS1 is a transmembrane protein 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 []. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wang S |
| Year: |
2014 |
| Journal: |
PLoS One |
| Title: |
A role of Rab29 in the integrity of the trans-Golgi network and retrograde trafficking of mannose-6-phosphate receptor. |
| Volume: |
9 |
| Issue: |
5 |
| Pages: |
e96242 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Spanò S |
| Year: |
2011 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Proteolytic targeting of Rab29 by an effector protein distinguishes the intracellular compartments of human-adapted and broad-host Salmonella. |
| Volume: |
108 |
| Issue: |
45 |
| Pages: |
18418-23 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kohler AC |
| Year: |
2014 |
| Journal: |
Acta Crystallogr D Biol Crystallogr |
| Title: |
Structural and enzymatic characterization of a host-specificity determinant from Salmonella. |
| Volume: |
70 |
| Issue: |
Pt 2 |
| Pages: |
384-91 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This entry represents the Rab29/Rab38/Rab32 subfamily. They are members of the Rab family of small GTPases. Human Rab32 was first identified in platelets but it is expressed in a variety of cell types, where it functions as an A-kinase anchoring protein (AKAP) []. Rab32 and closely related Rab38 are functionally redundant regulators of melanosomal protein trafficking and melanocyte pigmentation [, ].Ras-related protein Rab29 (also known as RAB7L) is related to Rab32 and Rab38. Rab29 regulates phagocytosis and traffic from the Golgi to the lysosome []. It is associated with trans-Golgi network (TGN) and is essential for maintaining the integrity of the TGN. Together with LRRK2, it plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner []. Rab29, Rab32 and Rab38 can be cleaved by GtgE, which is an effector protein from Salmonella Typhimurium that modulates trafficking of the Salmonella-containing vacuole (SCV) []. By targeting these GTPases, GtgE allows survival of the pathogen by preventing the delivery of antimicrobial factors to the SCV []. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhang Z |
| Year: |
2014 |
| Journal: |
Structure |
| Title: |
Crystal structure of the Rab9A-RUTBC2 RBD complex reveals the molecular basis for the binding specificity of Rab9A with RUTBC2. |
| Volume: |
22 |
| Issue: |
10 |
| Pages: |
1408-20 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
257
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nottingham RM |
| Year: |
2012 |
| Journal: |
J Biol Chem |
| Title: |
RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. |
| Volume: |
287 |
| Issue: |
27 |
| Pages: |
22740-8 |
|
•
•
•
•
•
|
| 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 []. |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
75
 |
| Fragment?: |
true |
|
•
•
•
•
•
|