Seroatlas · Human Serome Atlas

DIAPH3

Protein diaphanous homolog 3

Also known as: AN, AUNA1, DIAP3_HUMAN, DRF3, FLJ34705, NSDAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NSV4
Gene
DIAPH3
Ensembl
ENSG00000139734
Chromosome
13
Canonical length
1193 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Plasma membrane,Microtubules

OverviewNCBI Gene

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Canonical amino-acid sequenceUniProt

1193 residues, UniProt reviewed canonical sequence.

>Q9NSV4|DIAPH3
     1  MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP EEPGEKRPKF
    61  HLNIRTLTDD MLDKFASIRI PGSKKERPPL PNLKTAFASS DCSAAPLEMM ENFPKPLSEN
   121  ELLELFEKMM EDMNLNEDKK APLREKDFSI KKEMVMQYIN TASKTGSLKR SRQISPQEFI
   181  HELKMGSADE RLVTCLESLR VSLTSNPVSW VESFGHEGLG LLLDILEKLI SGKIQEKVVK
   241  KNQHKVIQCL KALMNTQYGL ERIMSEERSL SLLAKAVDPR HPNMMTDVVK LLSAVCIVGE
   301  ESILEEVLEA LTSAGEEKKI DRFFCIVEGL RHNSVQLQVA CMQLINALVT SPDDLDFRLH
   361  IRNEFMRCGL KEILPNLKCI KNDGLDIQLK VFDEHKEEDL FELSHRLEDI RAELDEAYDV
   421  YNMVWSTVKE TRAEGYFISI LQHLLLIRND YFIRQQYFKL IDECVSQIVL HRDGMDPDFT
   481  YRKRLDLDLT QFVDICIDQA KLEEFEEKAS ELYKKFEKEF TDHQETQAEL QKKEAKINEL
   541  QAELQAFKSQ FGALPADCNI PLPPSKEGGT GHSALPPPPP LPSGGGVPPP PPPPPPPPLP
   601  GMRMPFSGPV PPPPPLGFLG GQNSPPLPIL PFGLKPKKEF KPEISMRRLN WLKIRPHEMT
   661  ENCFWIKVNE NKYENVDLLC KLENTFCCQQ KERREEEDIE EKKSIKKKIK ELKFLDSKIA
   721  QNLSIFLSSF RVPYEEIRMM ILEVDETRLA ESMIQNLIKH LPDQEQLNSL SQFKSEYSNL
   781  CEPEQFVVVM SNVKRLRPRL SAILFKLQFE EQVNNIKPDI MAVSTACEEI KKSKSFSKLL
   841  ELVLLMGNYM NAGSRNAQTF GFNLSSLCKL KDTKSADQKT TLLHFLVEIC EEKYPDILNF
   901  VDDLEPLDKA SKVSVETLEK NLRQMGRQLQ QLEKELETFP PPEDLHDKFV TKMSRFVISA
   961  KEQYETLSKL HENMEKLYQS IIGYYAIDVK KVSVEDFLTD LNNFRTTFMQ AIKENIKKRE
  1021  AEEKEKRVRI AKELAERERL ERQQKKKRLL EMKTEGDETG VMDNLLEALQ SGAAFRDRRK
  1081  RTPMPKDVRQ SLSPMSQRPV LKVCNHENQK VQLTEGSRSH YNINCNSTRT PVAKELNYNL
  1141  DTHTSTGRIK AAEKKEACNV ESNRKKETEL LGSFSKNESV PEVEALLARL RAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DIAPH3 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)
0.43
Highest tissue expression
18 nTPM

Expression across tissuesHPA

Tissue

  • testis: 18 nTPM
  • bone marrow: 6.7 nTPM
  • thymus: 5 nTPM
  • placenta: 3.3 nTPM
  • smooth muscle: 2.4 nTPM
  • tonsil: 2.3 nTPM

Single-cell type

  • early spermatids: 535 nCPM
  • late primary spermatocytes: 390 nCPM
  • erythrocyte progenitors: 292 nCPM
  • parietal cells: 281 nCPM
  • monocyte progenitors: 230 nCPM
  • mesothelial cells: 200 nCPM

Immune cell

  • plasmacytoid DC: 0.3 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebellum: 0.6 nTPM
  • thalamus: 0.6 nTPM
  • cerebral cortex: 0.4 nTPM
  • choroid plexus: 0.4 nTPM
  • hypothalamus: 0.4 nTPM
  • pons: 0.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DIAPH3.

Disease | AllUniProt

Conditions DIAPH3 is implicated in, by any mechanism.

  • Auditory neuropathy, autosomal dominant 1 (AUNA1) MIM:609129

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 604 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autosomal dominant auditory neuropathy 1

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)
0.74
gnomAD pLI
0
gnomAD missense Z
0.26
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 DIAPH3 as an antibody target. Whether an autoantibody or antibody against DIAPH3 could matter depends on whether native DIAPH3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DIAPH3 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 DIAPH3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DIAPH3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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