UniProtKB - Q9H9C1 (SPE39_HUMAN)
Spermatogenesis-defective protein 39 homolog
VIPAS39
Functioni
GO - Molecular functioni
- protein-containing complex binding Source: UniProtKB
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- collagen metabolic process Source: MGI
- endosome to lysosome transport Source: UniProtKB
- intracellular protein transport Source: UniProtKB
- peptidyl-lysine hydroxylation Source: MGI
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Biological process | Differentiation, Protein transport, Spermatogenesis, Transcription, Transcription regulation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9H9C1 |
SIGNORi | Q9H9C1 |
Names & Taxonomyi
Protein namesi | Recommended name: Spermatogenesis-defective protein 39 homologShort name: hSPE-39 Alternative name(s): VPS33B-interacting protein in apical-basolateral polarity regulator VPS33B-interacting protein in polarity and apical restriction |
Gene namesi | Name:VIPAS39 Synonyms:C14orf133, SPE39, VIPAR |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20347, VIPAS39 |
MIMi | 613401, gene |
neXtProti | NX_Q9H9C1 |
VEuPathDBi | HostDB:ENSG00000151445.15 |
Subcellular locationi
Endosome
- Early endosome 1 Publication
- Recycling endosome 2 Publications
- Late endosome 1 Publication
Other locations
- Cytoplasm By similarity
- Cytoplasmic vesicle By similarity
Note: Colocalizes in clusters with VPS33B at cytoplasmic organelles (PubMed:19109425).
Endosome
- early endosome Source: UniProtKB
- late endosome Source: UniProtKB
- recycling endosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: MGI
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Cytoplasmic vesicle, EndosomePathology & Biotechi
Involvement in diseasei
Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2)
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 213 | L → P: Disrupts endodsomal colocalization with VPS33B. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 63894 |
MalaCardsi | VIPAS39 |
MIMi | 613404, phenotype |
OpenTargetsi | ENSG00000151445 |
Orphaneti | 2697, Arthrogryposis-renal dysfunction-cholestasis syndrome |
PharmGKBi | PA165479332 |
Miscellaneous databases
Pharosi | Q9H9C1, Tbio |
Genetic variation databases
BioMutai | VIPAS39 |
DMDMi | 41016926 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089935 | 1 – 493 | Spermatogenesis-defective protein 39 homologAdd BLAST | 493 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 21 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 117 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 121 | PhosphoserineCombined sources | 1 | |
Modified residuei | 124 | PhosphoserineCombined sources | 1 | |
Modified residuei | 130 | PhosphoserineCombined sources | 1 | |
Modified residuei | 132 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9H9C1 |
jPOSTi | Q9H9C1 |
MassIVEi | Q9H9C1 |
MaxQBi | Q9H9C1 |
PaxDbi | Q9H9C1 |
PeptideAtlasi | Q9H9C1 |
PRIDEi | Q9H9C1 |
ProteomicsDBi | 81312 [Q9H9C1-1] 81313 [Q9H9C1-2] |
PTM databases
iPTMneti | Q9H9C1 |
PhosphoSitePlusi | Q9H9C1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000151445, Expressed in cortical plate and 223 other tissues |
ExpressionAtlasi | Q9H9C1, baseline and differential |
Genevisiblei | Q9H9C1, HS |
Organism-specific databases
HPAi | ENSG00000151445, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with VPS33B (PubMed:19109425, PubMed:23901104). Associates with the homotypic fusion and vacuole protein sorting (HOPS) complex; impaired by VPS33B (PubMed:19109425, PubMed:23918659, PubMed:22753090). A possible interaction with VPS33A is reported conflictingly (PubMed:19109425, PubMed:23901104).
Interacts with RAB11A (PubMed:20190753).
3 PublicationsBinary interactionsi
Hide detailsQ9H9C1
Protein-protein interaction databases
BioGRIDi | 121974, 24 interactors |
CORUMi | Q9H9C1 |
IntActi | Q9H9C1, 18 interactors |
MINTi | Q9H9C1 |
STRINGi | 9606.ENSP00000452181 |
Miscellaneous databases
RNActi | Q9H9C1, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4677, Eukaryota |
GeneTreei | ENSGT00390000013955 |
HOGENOMi | CLU_029487_0_0_1 |
InParanoidi | Q9H9C1 |
PhylomeDBi | Q9H9C1 |
TreeFami | TF319640 |
Family and domain databases
Gene3Di | 1.10.150.780, 1 hit |
InterProi | View protein in InterPro IPR040057, Spe-39 IPR006925, Vps16_C IPR038132, Vps16_C_sf |
PANTHERi | PTHR13364, PTHR13364, 1 hit |
Pfami | View protein in Pfam PF04840, Vps16_C, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNRTKGDEEE YWNSSKFKAF TFDDEDDELS QLKESKRAVN SLRDFVDDDD
60 70 80 90 100
DDDLERVSWS GEPVGSISWS IRETAGNSGS THEGREQLKS RNSFSSYAQL
110 120 130 140 150
PKPTSTYSLS SFFRGRTRPG SFQSLSDALS DTPAKSYAPE LGRPKGEYRD
160 170 180 190 200
YSNDWSPSDT VRRLRKGKVC SLERFRSLQD KLQLLEEAVS MHDGNVITAV
210 220 230 240 250
LIFLKRTLSK EILFRELEVR QVALRHLIHF LKEIGDQKLL LDLFRFLDRT
260 270 280 290 300
EELALSHYRE HLNIQDPDKR KEFLKTCVGL PFSAEDSAHI QDHYTLLERQ
310 320 330 340 350
IIIEANDRHL ESAGQTEIFR KHPRKASILN MPLVTTLFYS CFYHYTEAEG
360 370 380 390 400
TFSSPVNLKK TFKIPDKQYV LTALAARAKL RAWNDVDALF TTKNWLGYTK
410 420 430 440 450
KRAPIGFHRV VEILHKNNAP VQILQEYVNL VEDVDTKLNL ATKFKCHDVV
460 470 480 490
IDTYRDLKDR QQLLAYRSKV DKGSAEEEKI DALLSSSQIR WKN
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V4K3 | G3V4K3_HUMAN | Spermatogenesis-defective protein 3... | VIPAS39 | 519 | Annotation score: | ||
G3V549 | G3V549_HUMAN | Spermatogenesis-defective protein 3... | VIPAS39 | 45 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 280 | L → S in BAB14237 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043055 | 67 – 115 | Missing in isoform 2. 1 PublicationAdd BLAST | 49 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK024661 mRNA Translation: BAB14951.1 Different initiation. AK022769 mRNA Translation: BAB14237.1 AK022925 mRNA Translation: BAB14310.1 AK298354 mRNA Translation: BAG60598.1 AF111168 Genomic DNA Translation: AAD09624.1 Sequence problems. BC015054 mRNA Translation: AAH15054.1 |
CCDSi | CCDS53905.1 [Q9H9C1-2] CCDS9862.1 [Q9H9C1-1] |
RefSeqi | NP_001180243.1, NM_001193314.1 [Q9H9C1-1] NP_001180244.1, NM_001193315.1 [Q9H9C1-1] NP_001180245.1, NM_001193316.1 [Q9H9C1-2] NP_001180246.1, NM_001193317.1 [Q9H9C1-1] NP_071350.2, NM_022067.3 [Q9H9C1-1] |
Genome annotation databases
Ensembli | ENST00000327028; ENSP00000313098; ENSG00000151445 [Q9H9C1-2] ENST00000343765; ENSP00000339122; ENSG00000151445 [Q9H9C1-1] ENST00000448935; ENSP00000404815; ENSG00000151445 [Q9H9C1-2] ENST00000553888; ENSP00000452181; ENSG00000151445 [Q9H9C1-1] ENST00000557658; ENSP00000452191; ENSG00000151445 [Q9H9C1-1] |
GeneIDi | 63894 |
KEGGi | hsa:63894 |
UCSCi | uc001xtt.3, human [Q9H9C1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK024661 mRNA Translation: BAB14951.1 Different initiation. AK022769 mRNA Translation: BAB14237.1 AK022925 mRNA Translation: BAB14310.1 AK298354 mRNA Translation: BAG60598.1 AF111168 Genomic DNA Translation: AAD09624.1 Sequence problems. BC015054 mRNA Translation: AAH15054.1 |
CCDSi | CCDS53905.1 [Q9H9C1-2] CCDS9862.1 [Q9H9C1-1] |
RefSeqi | NP_001180243.1, NM_001193314.1 [Q9H9C1-1] NP_001180244.1, NM_001193315.1 [Q9H9C1-1] NP_001180245.1, NM_001193316.1 [Q9H9C1-2] NP_001180246.1, NM_001193317.1 [Q9H9C1-1] NP_071350.2, NM_022067.3 [Q9H9C1-1] |
3D structure databases
SMRi | Q9H9C1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121974, 24 interactors |
CORUMi | Q9H9C1 |
IntActi | Q9H9C1, 18 interactors |
MINTi | Q9H9C1 |
STRINGi | 9606.ENSP00000452181 |
PTM databases
iPTMneti | Q9H9C1 |
PhosphoSitePlusi | Q9H9C1 |
Genetic variation databases
BioMutai | VIPAS39 |
DMDMi | 41016926 |
Proteomic databases
EPDi | Q9H9C1 |
jPOSTi | Q9H9C1 |
MassIVEi | Q9H9C1 |
MaxQBi | Q9H9C1 |
PaxDbi | Q9H9C1 |
PeptideAtlasi | Q9H9C1 |
PRIDEi | Q9H9C1 |
ProteomicsDBi | 81312 [Q9H9C1-1] 81313 [Q9H9C1-2] |
Protocols and materials databases
Antibodypediai | 26048, 111 antibodies |
DNASUi | 63894 |
Genome annotation databases
Ensembli | ENST00000327028; ENSP00000313098; ENSG00000151445 [Q9H9C1-2] ENST00000343765; ENSP00000339122; ENSG00000151445 [Q9H9C1-1] ENST00000448935; ENSP00000404815; ENSG00000151445 [Q9H9C1-2] ENST00000553888; ENSP00000452181; ENSG00000151445 [Q9H9C1-1] ENST00000557658; ENSP00000452191; ENSG00000151445 [Q9H9C1-1] |
GeneIDi | 63894 |
KEGGi | hsa:63894 |
UCSCi | uc001xtt.3, human [Q9H9C1-1] |
Organism-specific databases
CTDi | 63894 |
DisGeNETi | 63894 |
GeneCardsi | VIPAS39 |
HGNCi | HGNC:20347, VIPAS39 |
HPAi | ENSG00000151445, Low tissue specificity |
MalaCardsi | VIPAS39 |
MIMi | 613401, gene 613404, phenotype |
neXtProti | NX_Q9H9C1 |
OpenTargetsi | ENSG00000151445 |
Orphaneti | 2697, Arthrogryposis-renal dysfunction-cholestasis syndrome |
PharmGKBi | PA165479332 |
VEuPathDBi | HostDB:ENSG00000151445.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4677, Eukaryota |
GeneTreei | ENSGT00390000013955 |
HOGENOMi | CLU_029487_0_0_1 |
InParanoidi | Q9H9C1 |
PhylomeDBi | Q9H9C1 |
TreeFami | TF319640 |
Enzyme and pathway databases
PathwayCommonsi | Q9H9C1 |
SIGNORi | Q9H9C1 |
Miscellaneous databases
BioGRID-ORCSi | 63894, 4 hits in 873 CRISPR screens |
GenomeRNAii | 63894 |
Pharosi | Q9H9C1, Tbio |
PROi | PR:Q9H9C1 |
RNActi | Q9H9C1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151445, Expressed in cortical plate and 223 other tissues |
ExpressionAtlasi | Q9H9C1, baseline and differential |
Genevisiblei | Q9H9C1, HS |
Family and domain databases
Gene3Di | 1.10.150.780, 1 hit |
InterProi | View protein in InterPro IPR040057, Spe-39 IPR006925, Vps16_C IPR038132, Vps16_C_sf |
PANTHERi | PTHR13364, PTHR13364, 1 hit |
Pfami | View protein in Pfam PF04840, Vps16_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SPE39_HUMAN | |
Accessioni | Q9H9C1Primary (citable) accession number: Q9H9C1 Secondary accession number(s): B4DPI6 Q9H9I9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 16, 2004 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 159 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families