Q9H9C1 · SPE39_HUMAN
- ProteinSpermatogenesis-defective protein 39 homolog
- GeneVIPAS39
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids493 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753).
May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be independent of VPS33B (PubMed:19109425).
May play a role in vesicular trafficking during spermatogenesis (By similarity).
May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity).
May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be independent of VPS33B (PubMed:19109425).
May play a role in vesicular trafficking during spermatogenesis (By similarity).
May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | early endosome | |
Cellular Component | endosome | |
Cellular Component | Golgi apparatus | |
Cellular Component | late endosome | |
Cellular Component | recycling endosome | |
Cellular Component | vesicle tethering complex | |
Molecular Function | protein-containing complex binding | |
Biological Process | cell differentiation | |
Biological Process | collagen fibril organization | |
Biological Process | collagen metabolic process | |
Biological Process | endosome to lysosome transport | |
Biological Process | intracellular protein transport | |
Biological Process | intracellular transport | |
Biological Process | peptidyl-lysine hydroxylation | |
Biological Process | phagosome-lysosome fusion | |
Biological Process | post-translational protein modification | |
Biological Process | spermatogenesis | |
Biological Process | vacuolar transport |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSpermatogenesis-defective protein 39 homolog
- Short nameshSPE-39
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9H9C1
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Colocalizes in clusters with VPS33B at cytoplasmic organelles (PubMed:19109425).
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2)
- Note
- DescriptionA multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
- See alsoMIM:613404
Natural variants in ARCS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_087661 | 381-493 | missing | in ARCS2 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 213 | Disrupts endodsomal colocalization with VPS33B. | ||||
Sequence: L → P | ||||||
Natural variant | VAR_087661 | 381-493 | in ARCS2 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 562 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000089935 | 1-493 | UniProt | Spermatogenesis-defective protein 39 homolog | |||
Sequence: MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETAGNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN | |||||||
Modified residue (large scale data) | 11 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 21 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 21 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 90 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 93 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 97 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 105 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 108 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 117 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 121 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 121 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 124 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 124 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 130 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 130 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 132 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 132 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 156 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 486 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with VPS33B (PubMed:19109425, PubMed:23901104, PubMed:28017832).
Associates with the homotypic fusion and vacuole protein sorting (HOPS) complex; impaired by VPS33B (PubMed:19109425, PubMed:22753090, PubMed:23918659).
A possible interaction with VPS33A is reported conflictingly (PubMed:19109425, PubMed:23901104).
Interacts with RAB11A (PubMed:20190753).
Associates with the homotypic fusion and vacuole protein sorting (HOPS) complex; impaired by VPS33B (PubMed:19109425, PubMed:22753090, PubMed:23918659).
A possible interaction with VPS33A is reported conflictingly (PubMed:19109425, PubMed:23901104).
Interacts with RAB11A (PubMed:20190753).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
XENO | Q9H9C1 | Vps11 Q91W86 | 3 | EBI-749080, EBI-2527812 | |
XENO | Q9H9C1 | Vps16 Q920Q4 | 4 | EBI-749080, EBI-775797 | |
XENO | Q9H9C1 | Vps18 Q8R307 | 5 | EBI-749080, EBI-2527788 | |
BINARY | Q9H9C1 | VPS33B Q9H267 | 39 | EBI-749080, EBI-749072 | |
BINARY | Q9H9C1 | VPS41 P49754 | 4 | EBI-749080, EBI-2130459 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 68-83 | Polar residues | ||||
Sequence: SWSIRETAGNSGSTHE | ||||||
Region | 68-99 | Disordered | ||||
Sequence: SWSIRETAGNSGSTHEGREQLKSRNSFSSYAQ | ||||||
Region | 123-152 | Disordered | ||||
Sequence: QSLSDALSDTPAKSYAPELGRPKGEYRDYS |
Sequence similarities
Belongs to the SPE39 family.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9H9C1-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length493
- Mass (Da)57,005
- Last updated2001-03-01 v1
- ChecksumCF05C38EB922D192
Q9H9C1-2
- Name2
- Differences from canonical
- 67-115: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_043055 | 67-115 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 68-83 | Polar residues | ||||
Sequence: SWSIRETAGNSGSTHE | ||||||
Sequence conflict | 280 | in Ref. 1; BAB14237 | ||||
Sequence: L → S |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK024661 EMBL· GenBank· DDBJ | BAB14951.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK022769 EMBL· GenBank· DDBJ | BAB14237.1 EMBL· GenBank· DDBJ | mRNA | ||
AK022925 EMBL· GenBank· DDBJ | BAB14310.1 EMBL· GenBank· DDBJ | mRNA | ||
AK298354 EMBL· GenBank· DDBJ | BAG60598.1 EMBL· GenBank· DDBJ | mRNA | ||
AF111168 EMBL· GenBank· DDBJ | AAD09624.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
BC015054 EMBL· GenBank· DDBJ | AAH15054.1 EMBL· GenBank· DDBJ | mRNA |