Q9H9C1 · SPE39_HUMAN

  • Protein
    Spermatogenesis-defective protein 39 homolog
  • Gene
    VIPAS39
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

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).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcytoplasm
Cellular Componentearly endosome
Cellular Componentendosome
Cellular ComponentGolgi apparatus
Cellular Componentlate endosome
Cellular Componentrecycling endosome
Cellular Componentvesicle tethering complex
Molecular Functionprotein-containing complex binding
Biological Processcell differentiation
Biological Processcollagen fibril organization
Biological Processcollagen metabolic process
Biological Processendosome to lysosome transport
Biological Processintracellular protein transport
Biological Processintracellular transport
Biological Processpeptidyl-lysine hydroxylation
Biological Processphagosome-lysosome fusion
Biological Processpost-translational protein modification
Biological Processspermatogenesis
Biological Processvacuolar transport

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Spermatogenesis-defective protein 39 homolog
  • Short names
    hSPE-39
  • Alternative names
    • VPS33B-interacting protein in apical-basolateral polarity regulator
    • VPS33B-interacting protein in polarity and apical restriction

Gene names

    • Name
      VIPAS39
    • Synonyms
      C14orf133, SPE39, VIPAR

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q9H9C1
  • Secondary accessions
    • B4DPI6
    • O95434
    • Q9H7E1
    • Q9H9I9

Proteomes

Organism-specific databases

Subcellular Location

Cytoplasm
Cytoplasmic vesicle
Early endosome
Recycling endosome
Late endosome
Note: Colocalizes in clusters with VPS33B at cytoplasmic organelles (PubMed:19109425).

Keywords

Disease & Variants

Involvement in disease

Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased
  • Description
    A 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 also
    MIM:613404
Natural variants in ARCS2
Variant IDPosition(s)ChangeDescription
VAR_087661381-493missingin ARCS2

Features

Showing features for mutagenesis, natural variant.

TypeIDPosition(s)Description
Mutagenesis213Disrupts endodsomal colocalization with VPS33B.
Natural variantVAR_087661381-493in ARCS2

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.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data), modified residue.

TypeIDPosition(s)SourceDescription
ChainPRO_00000899351-493UniProtSpermatogenesis-defective protein 39 homolog
Modified residue (large scale data)11PRIDEPhosphotyrosine
Modified residue21UniProtPhosphothreonine
Modified residue (large scale data)21PRIDEPhosphothreonine
Modified residue (large scale data)90PRIDEPhosphoserine
Modified residue (large scale data)93PRIDEPhosphoserine
Modified residue (large scale data)97PRIDEPhosphotyrosine
Modified residue (large scale data)105PRIDEPhosphoserine
Modified residue (large scale data)108PRIDEPhosphoserine
Modified residue117UniProtPhosphothreonine
Modified residue121UniProtPhosphoserine
Modified residue (large scale data)121PRIDEPhosphoserine
Modified residue124UniProtPhosphoserine
Modified residue (large scale data)124PRIDEPhosphoserine
Modified residue130UniProtPhosphoserine
Modified residue (large scale data)130PRIDEPhosphoserine
Modified residue132UniProtPhosphothreonine
Modified residue (large scale data)132PRIDEPhosphothreonine
Modified residue (large scale data)156PRIDEPhosphoserine
Modified residue (large scale data)486PRIDEPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

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).

Binary interactions

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for compositional bias, region.

TypeIDPosition(s)Description
Compositional bias68-83Polar residues
Region68-99Disordered
Region123-152Disordered

Sequence similarities

Belongs to the SPE39 family.

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

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.

  • Length
    493
  • Mass (Da)
    57,005
  • Last updated
    2001-03-01 v1
  • Checksum
    CF05C38EB922D192
MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETAGNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN

Q9H9C1-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
G3V549G3V549_HUMANVIPAS3945
G3V4K3G3V4K3_HUMANVIPAS39519

Sequence caution

The sequence AAD09624.1 differs from that shown. Reason: Erroneous gene model prediction
The sequence BAB14951.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.

Features

Showing features for alternative sequence, compositional bias, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_04305567-115in isoform 2
Compositional bias68-83Polar residues
Sequence conflict280in Ref. 1; BAB14237

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

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