Seroatlas · Human Serome Atlas

DIAPH1

Protein diaphanous homolog 1

Also known as: DFNA1, DIAP1_HUMAN, hDIA1, LFHL1, mDia1

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

Protein identityUniProt · HPA

UniProt accession
O60610
Gene
DIAPH1
Ensembl
ENSG00000131504
Chromosome
5
Canonical length
1272 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1272 residues, UniProt reviewed canonical sequence.

>O60610|DIAPH1
     1  MEPPGGSLGP GRGTRDKKKG RSPDELPSAG GDGGKSKKFT LKRLMADELE RFTSMRIKKE
    61  KEKPNSAHRN SSASYGDDPT AQSLQDVSDE QVLVLFEQML LDMNLNEEKQ QPLREKDIII
   121  KREMVSQYLY TSKAGMSQKE SSKSAMMYIQ ELRSGLRDMP LLSCLESLRV SLNNNPVSWV
   181  QTFGAEGLAS LLDILKRLHD EKEETAGSYD SRNKHEIIRC LKAFMNNKFG IKTMLETEEG
   241  ILLLVRAMDP AVPNMMIDAA KLLSALCILP QPEDMNERVL EAMTERAEMD EVERFQPLLD
   301  GLKSGTTIAL KVGCLQLINA LITPAEELDF RVHIRSELMR LGLHQVLQDL REIENEDMRV
   361  QLNVFDEQGE EDSYDLKGRL DDIRMEMDDF NEVFQILLNT VKDSKAEPHF LSILQHLLLV
   421  RNDYEARPQY YKLIEECISQ IVLHKNGADP DFKCRHLQIE IEGLIDQMID KTKVEKSEAK
   481  AAELEKKLDS ELTARHELQV EMKKMESDFE QKLQDLQGEK DALHSEKQQI ATEKQDLEAE
   541  VSQLTGEVAK LTKELEDAKK EMASLSAAAI TVPPSVPSRA PVPPAPPLPG DSGTIIPPPP
   601  APGDSTTPPP PPPPPPPPPP LPGGVCISSP PSLPGGTAIS PPPPLSGDAT IPPPPPLPEG
   661  VGIPSPSSLP GGTAIPPPPP LPGSARIPPP PPPLPGSAGI PPPPPPLPGE AGMPPPPPPL
   721  PGGPGIPPPP PFPGGPGIPP PPPGMGMPPP PPFGFGVPAA PVLPFGLTPK KLYKPEVQLR
   781  RPNWSKLVAE DLSQDCFWTK VKEDRFENNE LFAKLTLTFS AQTKTSKAKK DQEGGEEKKS
   841  VQKKKVKELK VLDSKTAQNL SIFLGSFRMP YQEIKNVILE VNEAVLTESM IQNLIKQMPE
   901  PEQLKMLSEL KDEYDDLAES EQFGVVMGTV PRLRPRLNAI LFKLQFSEQV ENIKPEIVSV
   961  TAACEELRKS ESFSNLLEIT LLVGNYMNAG SRNAGAFGFN ISFLCKLRDT KSTDQKMTLL
  1021  HFLAELCEND YPDVLKFPDE LAHVEKASRV SAENLQKNLD QMKKQISDVE RDVQNFPAAT
  1081  DEKDKFVEKM TSFVKDAQEQ YNKLRMMHSN METLYKELGE YFLFDPKKLS VEEFFMDLHN
  1141  FRNMFLQAVK ENQKRRETEE KMRRAKLAKE KAEKERLEKQ QKREQLIDMN AEGDETGVMD
  1201  SLLEALQSGA AFRRKRGPRQ ANRKAGCAVT SLLASELTKD DAMAAVPAKV SKNSETFPTI
  1261  LEEAKELVGR AS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DIAPH1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.44
Highest tissue expression
159 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 159 nTPM
  • liver: 136 nTPM
  • esophagus: 93 nTPM
  • bone marrow: 85 nTPM
  • lung: 66 nTPM
  • kidney: 65 nTPM

Single-cell type

  • platelets: 825 nCPM
  • neutrophils: 744 nCPM
  • neutrophil progenitors: 552 nCPM
  • esophageal apical cells: 407 nCPM
  • monocyte progenitors: 405 nCPM
  • thymic myoid cells: 383 nCPM

Immune cell

  • gdT-cell: 33 nTPM
  • eosinophil: 30 nTPM
  • memory CD8 T-cell: 25 nTPM
  • naive CD8 T-cell: 24 nTPM
  • basophil: 24 nTPM
  • MAIT T-cell: 21 nTPM

Brain region

  • choroid plexus: 66 nTPM
  • hypothalamus: 37 nTPM
  • basal ganglia: 27 nTPM
  • hippocampal formation: 25 nTPM
  • cerebral cortex: 23 nTPM
  • pons: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DIAPH1.

Disease | AllUniProt

Conditions DIAPH1 is implicated in, by any mechanism.

  • Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1) MIM:124900
  • Seizures, cortical blindness, and microcephaly syndrome (SCBMS) MIM:616632

Disease | GeneticClinVar

62 pathogenic / likely-pathogenic of 1,893 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • Autosomal dominant nonsyndromic hearing loss 1
  • Neonatal seizure
  • DIAPH1-related disorder
  • Hearing impairment

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)
0.32
gnomAD pLI
0.92
gnomAD missense Z
1.65
DepMap mean gene effect
-0.15
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 DIAPH1 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 DIAPH1 as an antibody target. Whether an autoantibody or antibody against DIAPH1 could matter depends on whether native DIAPH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DIAPH1 is annotated at the cell surface, where native DIAPH1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DIAPH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DIAPH1. 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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