Seroatlas · Human Serome Atlas

C8orf48

Uncharacterized protein C8orf48

Also known as: CH048_HUMAN, FLJ25402

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

Protein identityUniProt · HPA

UniProt accession: Q96LL4
Gene: C8orf48
Ensembl: ENSG00000164743
Chromosome: 8
Canonical length: 319 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

No narrative summary is available for C8orf48 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

319 residues, UniProt reviewed canonical sequence.

>Q96LL4|C8orf48
     1  MAICPELAQT DKSALANLSD ETETLKNSTD EVQTSSSFSS SGGRQSSPLT SGSKLEREKQ
    61  TPSLEQGDTQ SELLDYKNYE KKLSKKWINY LKLKDSNFER HQPDTKLPTE ITRVSDEELN
   121  ALQSYCTMKI NLIHRRGDSK KKTSSRHKKL HLGLDVEASE RDAFSCTVPD ELLNRIYFKN
   181  MRTTPKQEAA AKQHISYQCP YCNRKRAELA LSAFLKQKKT LLESFLLQER IDEHLHTKDF
   241  LTRIGEAHQD FPRLSDDPRI IWKRLTEKSH IRYSGFERSE TEQKLQRDGN SACHLPFSLP
   301  FLKRLTLIKP ELVIVNDNV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C8orf48 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 6.5 nTPM

Expression across tissuesHPA

Tissue

testis: 6.5 nTPM
retina: 4.5 nTPM
thyroid gland: 4.1 nTPM
epididymis: 2.7 nTPM
basal ganglia: 2 nTPM
blood vessel: 2 nTPM

Single-cell type

late spermatids: 89 nCPM
late primary spermatocytes: 48 nCPM
early spermatids: 29 nCPM
hepatic stellate cells: 13 nCPM
bergmann glia: 5.8 nCPM
epididymal efferent duct ciliated cells: 5.5 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

white matter: 6.7 nTPM
medulla oblongata: 6.2 nTPM
basal ganglia: 5.2 nTPM
pons: 4.5 nTPM
thalamus: 4.2 nTPM
cerebral cortex: 3.9 nTPM

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): 1.65
gnomAD pLI: 0
gnomAD missense Z: -1.23
DepMap mean gene effect: 0.13
DepMap dependency class: none

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).

Protein domainsUniProt · Pfam · InterPro

Protein of unknown function DUF4606
Domain of unknown function (DUF4606)

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads C8orf48 as an antibody target. Whether an autoantibody or antibody against C8orf48 could matter depends on whether native C8orf48 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C8orf48 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 C8orf48 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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