TRIOBP

Protein identityUniProt · HPA

UniProt accession

Q9H2D6

Gene

TRIOBP

Ensembl

ENSG00000100106

Chromosome

22

Canonical length

2365 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

2365 residues, UniProt reviewed canonical sequence.

>Q9H2D6|TRIOBP
     1  MEEVPGDALC EHFEANILTQ NRCQNCFHPE EAHGARYQEL RSPSGAEVPY CDLPRCPPAP
    61  EDPLSASTSG CQSVVDPGLR PGPKRGPSPS AGLPEEGPTA APRSRSRELE AVPYLEGLTT
   121  SLCGSCNEDP GSDPTSSPDS ATPDDTSNSS SVDWDTVERQ EEEAPSWDEL AVMIPRRPRE
   181  GPRADSSQRA PSLLTRSPVG GDAAGQKKED TGGGGRSAGQ HWARLRGESG LSLERHRSTL
   241  TQASSMTPHS GPRSTTSQAS PAQRDTAQAA STREIPRASS PHRITQRDTS RASSTQQEIS
   301  RASSTQQETS RASSTQEDTP RASSTQEDTP RASSTQWNTP RASSPSRSTQ LDNPRTSSTQ
   361  QDNPQTSFPT CTPQRENPRT PCVQQDDPRA SSPNRTTQRE NSRTSCAQRD NPKASRTSSP
   421  NRATRDNPRT SCAQRDNPRA SSPSRATRDN PTTSCAQRDN PRASRTSSPN RATRDNPRTS
   481  CAQRDNPRAS SPSRATRDNP TTSCAQRDNP RASRTSSPNR ATRDNPRTSC AQRDNPRASS
   541  PNRAARDNPT TSCAQRDNPR ASRTSSPNRA TRDNPRTSCA QRDNPRASSP NRATRDNPTT
   601  SCAQRDNPRA SRTSSPNRAT RDNPRTSCAQ RDNPRASSPN RTTQQDSPRT SCARRDDPRA
   661  SSPNRTIQQE NPRTSCALRD NPRASSPSRT IQQENPRTSC AQRDDPRASS PNRTTQQENP
   721  RTSCARRDNP RASSRNRTIQ RDNPRTSCAQ RDNPRASSPN RTIQQENLRT SCTRQDNPRT
   781  SSPNRATRDN PRTSCAQRDN LRASSPIRAT QQDNPRTCIQ QNIPRSSSTQ QDNPKTSCTK
   841  RDNLRPTCTQ RDRTQSFSFQ RDNPGTSSSQ CCTQKENLRP SSPHRSTQWN NPRNSSPHRT
   901  NKDIPWASFP LRPTQSDGPR TSSPSRSKQS EVPWASIALR PTQGDRPQTS SPSRPAQHDP
   961  PQSSFGPTQY NLPSRATSSS HNPGHQSTSR TSSPVYPAAY GAPLTSPEPS QPPCAVCIGH
  1021  RDAPRASSPP RYLQHDPFPF FPEPRAPESE PPHHEPPYIP PAVCIGHRDA PRASSPPRHT
  1081  QFDPFPFLPD TSDAEHQCQS PQHEPLQLPA PVCIGYRDAP RASSPPRQAP EPSLLFQDLP
  1141  RASTESLVPS MDSLHECPHI PTPVCIGHRD APSFSSPPRQ APEPSLFFQD PPGTSMESLA
  1201  PSTDSLHGSP VLIPQVCIGH RDAPRASSPP RHPPSDLAFL APSPSPGSSG GSRGSAPPGE
  1261  TRHNLEREEY TVLADLPPPR RLAQRQPGPQ AQCSSGGRTH SPGRAEVERL FGQERRKSEA
  1321  AGAFQAQDEG RSQQPSQGQS QLLRRQSSPA PSRQVTMLPA KQAELTRRSQ AEPPHPWSPE
  1381  KRPEGDRQLQ GSPLPPRTSA RTPERELRTQ RPLESGQAGP RQPLGVWQSQ EEPPGSQGPH
  1441  RHLERSWSSQ EGGLGPGGWW GCGEPSLGAA KAPEGAWGGT SREYKESWGQ PEAWEEKPTH
  1501  ELPRELGKRS PLTSPPENWG GPAESSQSWH SGTPTAVGWG AEGACPYPRG SERRPELDWR
  1561  DLLGLLRAPG EGVWARVPSL DWEGLLELLQ ARLPRKDPAG HRDDLARALG PELGPPGTND
  1621  VPEQESHSQP EGWAEATPVN GHSPALQSQS PVQLPSPACT STQWPKIKVT RGPATATLAG
  1681  LEQTGPLGSR STAKGPSLPE LQFQPEEPEE SEPSRGQDPL TDQKQADSAD KRPAEGKAGS
  1741  PLKGRLVTSW RMPGDRPTLF NPFLLSLGVL RWRRPDLLNF KKGWMSILDE PGEPPSPSLT
  1801  TTSTSQWKKH WFVLTDSSLK YYRDSTAEEA DELDGEIDLR SCTDVTEYAV QRNYGFQIHT
  1861  KDAVYTLSAM TSGIRRNWIE ALRKTVRPTS APDVTKLSDS NKENALHSYS TQKGPLKAGE
  1921  QRAGSEVISR GGPRKADGQR QALDYVELSP LTQASPQRAR TPARTPDRLA KQEELERDLA
  1981  QRSEERRKWF EATDSRTPEV PAGEGPRRGL GAPLTEDQQN RLSEEIEKKW QELEKLPLRE
  2041  NKRVPLTALL NQSRGERRGP PSDGHEALEK EVQALRAQLE AWRLQGEAPQ SALRSQEDGH
  2101  IPPGYISQEA CERSLAEMES SHQQVMEELQ RHHERELQRL QQEKEWLLAE ETAATASAIE
  2161  AMKKAYQEEL SRELSKTRSL QQGPDGLRKQ HQSDVEALKR ELQVLSEQYS QKCLEIGALM
  2221  RQAEEREHTL RRCQQEGQEL LRHNQELHGR LSEEIDQLRG FIASQGMGNG CGRSNERSSC
  2281  ELEVLLRVKE NELQYLKKEV QCLRDELQMM QKDKRFTSGK YQDVYVELSH IKTRSEREIE
  2341  QLKEHLRLAM AALQEKESMR NSLAE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRIOBP 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)

0.6

Highest tissue expression

75 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRIOBP.

Disease | AllUniProt

Conditions TRIOBP is implicated in, by any mechanism.

• Deafness, autosomal recessive, 28 (DFNB28) MIM:609823

Disease | GeneticClinVar

102 pathogenic / likely-pathogenic of 1,144 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 28
• Rare genetic deafness
• TRIOBP-related disorder
• Hearing loss, autosomal recessive
• Nonsyndromic genetic hearing loss

Disease | ImmuneIEDB

Conditions an epitope on TRIOBP was assayed in.

• melanoma T cell

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)

0.71

gnomAD pLI

0

gnomAD missense Z

-0.2

DepMap mean gene effect

0.01

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).

OntologyGO

Biological processes

• actin modification
• auditory receptor cell stereocilium organization
• barbed-end actin filament capping
• cell division
• positive regulation of substrate adhesion-dependent cell spreading
• sensory perception of sound

Molecular functions

• actin filament binding
• myosin II binding
• small GTPase binding
• ubiquitin protein ligase binding

Cellular components

• actin cytoskeleton
• centrosome
• chromosome, telomeric region
• focal adhesion
• midbody
• nucleus
• stereocilium base

Protein domainsUniProt · Pfam · InterPro

• Pleckstrin homology domain
• PH-like domain superfamily
• Myosin phosphatase-RhoA interacting protein, PH domain
• Actin Cytoskeleton Regulatory
• PH domain

KeywordsUniProt

• Actin-binding
• Alternative promoter usage
• Cell cycle
• Cell division
• Chromosome
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Deafness
• Methylation
• Mitosis
• Non-syndromic deafness
• Nucleus
• Phosphoprotein
• Telomere
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of TRIOBP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HECTD3
• PJVK
• TERF1
• FXR1
• PACSIN2
• PACSIN3