Seroatlas · Human Serome Atlas

OTUD7A

OTU domain-containing protein 7A

Also known as: C15orf16, CEZANNE2, OTU7A_HUMAN, OTUD7

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

Protein identityUniProt · HPA

UniProt accession: Q8TE49
Gene: OTUD7A
Ensembl: ENSG00000169918
Chromosome: 15
Canonical length: 926 aa
Protein class: Cancer-related genes, Enzymes, Predicted intracellular proteins
Subcellular location: Nucleoli,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

926 residues, UniProt reviewed canonical sequence.

>Q8TE49|OTUD7A
     1  MVSSVLPNPT SAECWAALLH DPMTLDMDAV LSDFVRSTGA EPGLARDLLE GKNWDLTAAL
    61  SDYEQLRQVH TANLPHVFNE GRGPKQPERE PQPGHKVERP CLQRQDDIAQ EKRLSRGISH
   121  ASSAIVSLAR SHVASECNNE QFPLEMPIYT FQLPDLSVYS EDFRSFIERD LIEQATMVAL
   181  EQAGRLNWWS TVCTSCKRLL PLATTGDGNC LLHAASLGMW GFHDRDLVLR KALYTMMRTG
   241  AEREALKRRW RWQQTQQNKE EEWEREWTEL LKLASSEPRT HFSKNGGTGG GVDNSEDPVY
   301  ESLEEFHVFV LAHILRRPIV VVADTMLRDS GGEAFAPIPF GGIYLPLEVP PNRCHCSPLV
   361  LAYDQAHFSA LVSMEQRDQQ REQAVIPLTD SEHKLLPLHF AVDPGKDWEW GKDDNDNARL
   421  AHLILSLEAK LNLLHSYMNV TWIRIPSETR APLAQPESPT ASAGEDVQSL ADSLDSDRDS
   481  VCSNSNSNNG KNGKDKEKEK QRKEKDKTRA DSVANKLGSF SKTLGIKLKK NMGGLGGLVH
   541  GKMGRANSAN GKNGDSAERG KEKKAKSRKG SKEESGASAS TSPSEKTTPS PTDKAAGASP
   601  AEKGGGPRGD AWKYSTDVKL SLNILRAAMQ GERKFIFAGL LLTSHRHQFH EEMIGYYLTS
   661  AQERFSAEQE QRRRDAATAA AAAAAAAAAT AKRPPRRPET EGVPVPERAS PGPPTQLVLK
   721  LKERPSPGPA AGRAARAAAG GTASPGGGAR RASASGPVPG RSPPAPARQS VIHVQASGAR
   781  DEACAPAVGA LRPCATYPQQ NRSLSSQSYS PARAAALRTV NTVESLARAV PGALPGAAGT
   841  AGAAEHKSQT YTNGFGALRD GLEFADADAP TARSNGECGR GGPGPVQRRC QRENCAFYGR
   901  AETEHYCSYC YREELRRRRE ARGARP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTUD7A 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): 0.49
Highest tissue expression: 9.8 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 9.8 nTPM
spinal cord: 7 nTPM
cerebral cortex: 6 nTPM
hippocampal formation: 5.9 nTPM
midbrain: 5 nTPM
amygdala: 4.7 nTPM

Single-cell type

oligodendrocytes: 672 nCPM
brain excitatory neurons: 384 nCPM
brain inhibitory neurons: 300 nCPM
astrocytes: 254 nCPM
bergmann glia: 229 nCPM
other brain neurons: 204 nCPM

Immune cell

gdT-cell: 0.2 nTPM
MAIT T-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

white matter: 51 nTPM
basal ganglia: 29 nTPM
medulla oblongata: 28 nTPM
thalamus: 28 nTPM
cerebral cortex: 27 nTPM
pons: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTUD7A.

Disease | AllUniProt

Conditions OTUD7A is implicated in, by any mechanism.

Neurodevelopmental disorder with hypotonia and seizures (NEDHS) MIM:620790

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 185 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with hypotonia and seizures
Specific learning disability
Language disorder
Epileptic encephalopathy
Severe global developmental delay

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): 0.33
gnomAD pLI: 0.95
gnomAD missense Z: 2.87
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OTUD7A as an antibody target. Whether an autoantibody or antibody against OTUD7A could matter depends on whether native OTUD7A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OTUD7A 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 OTUD7A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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