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UniProtKB - Q9H9C1 (SPE39_HUMAN)

Protein

Spermatogenesis-defective protein 39 homolog

Gene

VIPAS39

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 indepenedent 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).By similarity2 Publications

GO - Molecular functioni

  • protein-containing complex binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processDifferentiation, Protein transport, Spermatogenesis, Transcription, Transcription regulation, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis-defective protein 39 homolog
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000151445.15
HGNCiHGNC:20347 VIPAS39
MIMi613401 gene
neXtProtiNX_Q9H9C1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2)
The disease is caused by mutations affecting the gene represented in this entry. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased.
Disease 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 also OMIM:613404

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi213L → P: Disrupts endodsomal colocalization with VPS33B. 1 Publication1

Organism-specific databases

DisGeNETi63894
MalaCardsiVIPAS39
MIMi613404 phenotype
OpenTargetsiENSG00000151445
Orphaneti2697 Arthrogryposis-renal dysfunction-cholestasis syndrome
PharmGKBiPA165479332

Polymorphism and mutation databases

BioMutaiVIPAS39
DMDMi41016926

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000899351 – 493Spermatogenesis-defective protein 39 homologAdd BLAST493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei21PhosphothreonineCombined sources1
Modified residuei117PhosphothreonineBy similarity1
Modified residuei121PhosphoserineCombined sources1
Modified residuei124PhosphoserineCombined sources1
Modified residuei130PhosphoserineCombined sources1
Modified residuei132PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H9C1
MaxQBiQ9H9C1
PaxDbiQ9H9C1
PeptideAtlasiQ9H9C1
PRIDEiQ9H9C1
ProteomicsDBi81312
81313 [Q9H9C1-2]

PTM databases

iPTMnetiQ9H9C1
PhosphoSitePlusiQ9H9C1

Expressioni

Gene expression databases

BgeeiENSG00000151445 Expressed in 209 organ(s), highest expression level in blood
CleanExiHS_C14orf133
ExpressionAtlasiQ9H9C1 baseline and differential
GenevisibleiQ9H9C1 HS

Organism-specific databases

HPAiHPA003589
HPA003593

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 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi121974, 18 interactors
CORUMiQ9H9C1
IntActiQ9H9C1, 11 interactors
MINTiQ9H9C1
STRINGi9606.ENSP00000339122

Structurei

3D structure databases

ProteinModelPortaliQ9H9C1
SMRiQ9H9C1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SPE39 family.Curated

Phylogenomic databases

eggNOGiKOG4677 Eukaryota
ENOG410XR4F LUCA
GeneTreeiENSGT00390000013955
HOGENOMiHOG000070044
HOVERGENiHBG051031
InParanoidiQ9H9C1
PhylomeDBiQ9H9C1
TreeFamiTF319640

Family and domain databases

Gene3Di1.10.150.780, 1 hit
InterProiView protein in InterPro
IPR040057 Spe-39
IPR006925 Vps16_C
IPR038132 Vps16_C_sf
PANTHERiPTHR13364 PTHR13364, 1 hit
PfamiView protein in Pfam
PF04840 Vps16_C, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H9C1-1) [UniParc]FASTAAdd to basket

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.

« Hide
        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
Length:493
Mass (Da):57,005
Last modified:March 1, 2001 - v1
Checksum:iCF05C38EB922D192
GO
Isoform 2 (identifier: Q9H9C1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-115: Missing.

Note: No experimental confirmation available.
Show »
Length:444
Mass (Da):51,581
Checksum:i62293CF96A0DF07A
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V4K3G3V4K3_HUMAN
Spermatogenesis-defective protein 3...
VIPAS39
519Annotation score:
G3V549G3V549_HUMAN
Spermatogenesis-defective protein 3...
VIPAS39
45Annotation score:

Sequence cautioni

The sequence AAD09624 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB14951 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti280L → S in BAB14237 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04305567 – 115Missing in isoform 2. 1 PublicationAdd BLAST49

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
CCDSiCCDS53905.1 [Q9H9C1-2]
CCDS9862.1 [Q9H9C1-1]
RefSeqiNP_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]
UniGeneiHs.16157

Genome annotation databases

EnsembliENST00000327028; ENSP00000313098; ENSG00000151445 [Q9H9C1-2]
ENST00000343765; ENSP00000339122; ENSG00000151445 [Q9H9C1-1]
ENST00000448935; ENSP00000404815; ENSG00000151445 [Q9H9C1-2]
ENST00000553888; ENSP00000452181; ENSG00000151445 [Q9H9C1-1]
ENST00000557658; ENSP00000452191; ENSG00000151445 [Q9H9C1-1]
GeneIDi63894
KEGGihsa:63894
UCSCiuc001xtt.3 human [Q9H9C1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS53905.1 [Q9H9C1-2]
CCDS9862.1 [Q9H9C1-1]
RefSeqiNP_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]
UniGeneiHs.16157

3D structure databases

ProteinModelPortaliQ9H9C1
SMRiQ9H9C1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121974, 18 interactors
CORUMiQ9H9C1
IntActiQ9H9C1, 11 interactors
MINTiQ9H9C1
STRINGi9606.ENSP00000339122

PTM databases

iPTMnetiQ9H9C1
PhosphoSitePlusiQ9H9C1

Polymorphism and mutation databases

BioMutaiVIPAS39
DMDMi41016926

Proteomic databases

EPDiQ9H9C1
MaxQBiQ9H9C1
PaxDbiQ9H9C1
PeptideAtlasiQ9H9C1
PRIDEiQ9H9C1
ProteomicsDBi81312
81313 [Q9H9C1-2]

Protocols and materials databases

DNASUi63894
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327028; ENSP00000313098; ENSG00000151445 [Q9H9C1-2]
ENST00000343765; ENSP00000339122; ENSG00000151445 [Q9H9C1-1]
ENST00000448935; ENSP00000404815; ENSG00000151445 [Q9H9C1-2]
ENST00000553888; ENSP00000452181; ENSG00000151445 [Q9H9C1-1]
ENST00000557658; ENSP00000452191; ENSG00000151445 [Q9H9C1-1]
GeneIDi63894
KEGGihsa:63894
UCSCiuc001xtt.3 human [Q9H9C1-1]

Organism-specific databases

CTDi63894
DisGeNETi63894
EuPathDBiHostDB:ENSG00000151445.15
GeneCardsiVIPAS39
HGNCiHGNC:20347 VIPAS39
HPAiHPA003589
HPA003593
MalaCardsiVIPAS39
MIMi613401 gene
613404 phenotype
neXtProtiNX_Q9H9C1
OpenTargetsiENSG00000151445
Orphaneti2697 Arthrogryposis-renal dysfunction-cholestasis syndrome
PharmGKBiPA165479332
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4677 Eukaryota
ENOG410XR4F LUCA
GeneTreeiENSGT00390000013955
HOGENOMiHOG000070044
HOVERGENiHBG051031
InParanoidiQ9H9C1
PhylomeDBiQ9H9C1
TreeFamiTF319640

Miscellaneous databases

GenomeRNAii63894
PROiPR:Q9H9C1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151445 Expressed in 209 organ(s), highest expression level in blood
CleanExiHS_C14orf133
ExpressionAtlasiQ9H9C1 baseline and differential
GenevisibleiQ9H9C1 HS

Family and domain databases

Gene3Di1.10.150.780, 1 hit
InterProiView protein in InterPro
IPR040057 Spe-39
IPR006925 Vps16_C
IPR038132 Vps16_C_sf
PANTHERiPTHR13364 PTHR13364, 1 hit
PfamiView protein in Pfam
PF04840 Vps16_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSPE39_HUMAN
AccessioniPrimary (citable) accession number: Q9H9C1
Secondary accession number(s): B4DPI6
, O95434, Q9H7E1, Q9H9I9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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