Seroatlas · Human Serome Atlas

VIPAS39

Spermatogenesis-defective protein 39 homolog

Also known as: C14orf133, hSPE-39, SPE-39, SPE39, SPE39_HUMAN, VIPAR, VPS16B

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H9C1
Gene: VIPAS39
Ensembl: ENSG00000151445
Chromosome: 14
Canonical length: 493 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Involved in endosome to lysosome transport and intracellular protein transport. Acts upstream of or within collagen metabolic process and peptidyl-lysine hydroxylation. Located in Golgi apparatus and endosome. Part of vesicle tethering complex. Implicated in arthrogryposis, renal dysfunction, and cholestasis 2. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

493 residues, UniProt reviewed canonical sequence.

>Q9H9C1|VIPAS39
     1  MNRTKGDEEE YWNSSKFKAF TFDDEDDELS QLKESKRAVN SLRDFVDDDD DDDLERVSWS
    61  GEPVGSISWS IRETAGNSGS THEGREQLKS RNSFSSYAQL PKPTSTYSLS SFFRGRTRPG
   121  SFQSLSDALS DTPAKSYAPE LGRPKGEYRD YSNDWSPSDT VRRLRKGKVC SLERFRSLQD
   181  KLQLLEEAVS MHDGNVITAV LIFLKRTLSK EILFRELEVR QVALRHLIHF LKEIGDQKLL
   241  LDLFRFLDRT EELALSHYRE HLNIQDPDKR KEFLKTCVGL PFSAEDSAHI QDHYTLLERQ
   301  IIIEANDRHL ESAGQTEIFR KHPRKASILN MPLVTTLFYS CFYHYTEAEG TFSSPVNLKK
   361  TFKIPDKQYV LTALAARAKL RAWNDVDALF TTKNWLGYTK KRAPIGFHRV VEILHKNNAP
   421  VQILQEYVNL VEDVDTKLNL ATKFKCHDVV IDTYRDLKDR QQLLAYRSKV DKGSAEEEKI
   481  DALLSSSQIR WKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VIPAS39 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

ovary: 19 nTPM
thymus: 15 nTPM
blood vessel: 15 nTPM
testis: 15 nTPM
urinary bladder: 15 nTPM
placenta: 15 nTPM

Single-cell type

sertoli cells: 76 nCPM
cone photoreceptor cells: 39 nCPM
megakaryocytes: 37 nCPM
extravillous trophoblasts: 34 nCPM
adrenal medulla cells: 32 nCPM
retinal ganglion cells: 31 nCPM

Immune cell

non-classical monocyte: 20 nTPM
eosinophil: 18 nTPM
intermediate monocyte: 16 nTPM
NK-cell: 13 nTPM
myeloid DC: 11 nTPM
classical monocyte: 9.4 nTPM

Brain region

white matter: 18 nTPM
thalamus: 15 nTPM
basal ganglia: 15 nTPM
cerebral cortex: 15 nTPM
choroid plexus: 14 nTPM
hypothalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VIPAS39.

Disease | AllUniProt

Conditions VIPAS39 is implicated in, by any mechanism.

Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2) MIM:613404

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 385 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Arthrogryposis, renal dysfunction, and cholestasis 2
Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis with renal dysfunction and cholestasis syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.8
gnomAD pLI: 0
gnomAD missense Z: 0.86
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein-containing complex binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VIPAS39 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VIPAS39 as an antibody target. Whether an autoantibody or antibody against VIPAS39 could matter depends on whether native VIPAS39 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VIPAS39 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label VIPAS39 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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