Seroatlas · Human Serome Atlas

TPRN

Taperin

Also known as: C9orf75, DFNB79, FLJ90254, TPRN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q4KMQ1
Gene: TPRN
Ensembl: ENSG00000176058
Chromosome: 9
Canonical length: 711 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]

Canonical amino-acid sequenceUniProt

711 residues, UniProt reviewed canonical sequence.

>Q4KMQ1|TPRN
     1  MAALGRPGSG PRAAVPAWKR EILERKRAKL AALGGGAGPG AAEPEQRVLA ESLGPLRENP
    61  FMLLEAERRR GGGAAGARLL ERYRRVPGVR ALRADSVLII ETVPGFPPAP PAPGAAQIRA
   121  AEVLVYGAPP GRVSRLLERF DPPAAPRRRG SPERARPPPP PPPPAPPRPP PAAPSPPAAP
   181  GPRGGGASPG ARRSDFLQKT GSNSFTVHPR GLHRGAGARL LSNGHSAPEP RAGPANRLAG
   241  SPPGSGQWKP KVESGDPSLH PPPSPGTPSA TPASPPASAT PSQRQCVSAA TSTNDSFEIR
   301  PAPKPVMETI PLGDLQARAL ASLRANSRNS FMVIPKSKAS GAPPPEGRQS VELPKGDLGP
   361  ASPSQELGSQ PVPGGDGAPA LGKSPLEVEA QWAVEEGACP RTATALADRA IRWQRPSSPP
   421  PFLPAASEEA EPAEGLRVPG LAKNSREYVR PGLPVTFIDE VDSEEAPQAA KLPYLPHPAR
   481  PLHPARPGCV AELQPRGSNT FTVVPKRKPG TLQDQHFSQA NREPRPREAE EEEASCLLGP
   541  TLKKRYPTVH EIEVIGGYLA LQKSCLTKAG SSRKKMKISF NDKSLQTTFE YPSESSLEQE
   601  EEVDQQEEEE EEEEEEEEEE EGSGSEEKPF ALFLPRATFV SSVRPESSRL PEGSSGLSSY
   661  TPKHSVAFSK WQEQALEQAP REAEPPPVEA MLTPASQNDL SDFRSEPALY F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TPRN 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): 0.67
Highest tissue expression: 89 nTPM

Expression across tissuesHPA

Tissue

pancreas: 89 nTPM
cerebellum: 56 nTPM
stomach: 28 nTPM
spinal cord: 28 nTPM
small intestine: 25 nTPM
hippocampal formation: 25 nTPM

Single-cell type

colonocytes: 138 nCPM
retinal pigment epithelial cells: 107 nCPM
enterocytes: 91 nCPM
pancreatic acinar cells: 90 nCPM
goblet cells: 59 nCPM
oligodendrocytes: 59 nCPM

Immune cell

classical monocyte: 0.8 nTPM
intermediate monocyte: 0.8 nTPM
NK-cell: 0.8 nTPM
myeloid DC: 0.6 nTPM
plasmacytoid DC: 0.6 nTPM
T-reg: 0.6 nTPM

Brain region

white matter: 103 nTPM
basal ganglia: 67 nTPM
cerebral cortex: 66 nTPM
medulla oblongata: 59 nTPM
midbrain: 57 nTPM
thalamus: 55 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TPRN.

Disease | AllUniProt

Conditions TPRN is implicated in, by any mechanism.

Deafness, autosomal recessive, 79 (DFNB79) MIM:613307

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 426 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 79
Rare genetic deafness
Hearing loss, autosomal recessive
TPRN-related disorder
Ear malformation

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: 0.01
gnomAD missense Z: -0.5
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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