Seroatlas · Human Serome Atlas

RTTN

Rotatin

Also known as: DKFZP434G145, RTTN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86VV8
Gene: RTTN
Ensembl: ENSG00000176225
Chromosome: 18
Canonical length: 2226 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

2226 residues, UniProt reviewed canonical sequence.

>Q86VV8|RTTN
     1  MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
    61  KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
   121  ALSSASYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
   181  TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
   241  FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
   301  SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
   361  LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
   421  STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
   481  VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
   541  KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
   601  IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
   661  GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
   721  PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
   781  FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
   841  DDVDLVLRKS AAEQLAVIMQ DIKMHAVVKK LCLIDKIIEY LNECVSQDGK VVECLVQPCL
   901  TLLRKVLCGD PVMRVSLSQQ SSLLTVLFRV SLIFHEDCSV VTEVGALFCL LLFDEVSRMD
   961  MWSVNPSNKP SLPSVFSLPV SVFRRYHLPV HVIGHHAVSP YSIVLPLSAD CLALKPVSDM
  1021  LRIAWNLSWY HGSDNLLKQM NSETKTQEIL DALKLSTEDI LTLKITHMAS GLQDCLHSIV
  1081  QAATHREVRA AVTRMSFYLL NDRLSLKGCP GPCGVTLKSL AWHTALNRFL QVLPACTEDE
  1141  KLLIDIIHFL NKLIKEQRKN SSLELLNWIL ELLLRHSANP LLDLLVLTES QAREETDDIR
  1201  TAVRQQLQKE LIALFDTLLL NFMEVTDRKC SELLYVFQTQ LALKLLQCLK VTDAPHFYGL
  1261  PSLERTLRGM ANLTAFPGWS SHSPLTKPLD ICVKYLSGLL EVITSFYVER GGNAMSFMGK
  1321  GVTKSTILCL LHLSHEMMAQ AGSLEWMSLW FLPLGSHSEE HIPTQQGLAW LIPLWVDRDP
  1381  EVRFTSLGLG SALTTLETGC VALANSCQNI SGGLWGTVVN ILLDQSECSM VRREAAFILQ
  1441  NLLVIPMPTE IIKDYTWQGP CVHDEDSGLS LIGKPALQAL LYHCHFYEHL NQMVKHCYLG
  1501  RCMFDLNFSA FDRNSESNDL NGLDDSFKFW RAPSRTSQDR DPSSLSTSET TVAPSLGSTE
  1561  FQPLVQSTTL LPEASHDQFV AQGHQESTSP RPPHDSSLSA PLPKLCVFVT PSLLSAMCSL
  1621  LDNLLTIAPR DTAKAFRQAH LIELLCSIAD ATLIQTCVQE LRALLPSSPP AEHTQAQVSF
  1681  LLEYLSSLSR LLQSCLLVEP DLVIQDELVK PLITNIIGIL TICTKDVLDK ELISAFYHTW
  1741  THLFNLLAML LRKAGAITLP FVTVALAKHW TAAIDMFCTC AGLSATCPAL YTASLQFLSV
  1801  LLTEEAKGHL QAKSKTHLCC SPTVASLLDD SQENQKSLEQ LSDVILQCYE GKSSKDILKR
  1861  VAANALMSLL AVSRRAQKHA LKANLIDNCM EQMKHINAQL NLDSLRPGKA ALKKKEDGVI
  1921  KELSIAMQLL RNCLYQNEEC KEAALEAHLV PVLHSLWPWI LMDDSLMQIS LQLLCVYTAN
  1981  FPNGCSSLCW SSCGQHPVQA THRGAVSNSL MLCILKLASQ MPLENTTVQQ MVFMLLSNLA
  2041  LSHDCKGVIQ KSNFLQNFLS LALPKGGNKH LSNLTILWLK LLLNISSGED GQQMILRLDG
  2101  CLDLLTEMSK YKHKSSPLLP LLIFHNVCFS PANKPKILAN EKVITVLAAC LESENQNAQR
  2161  IGAAALWALI YNYQKAKTAL KSPSVKRRVD EAYSLAKKTF PNSEANPLNA YYLKCLENLV
  2221  QLLNSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RTTN 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): 0.29
Highest tissue expression: 3.8 nTPM

Expression across tissuesHPA

Tissue

retina: 3.8 nTPM
thymus: 3.4 nTPM
basal ganglia: 3.2 nTPM
spinal cord: 3.2 nTPM
testis: 3.1 nTPM
bone marrow: 2.9 nTPM

Single-cell type

microglia: 746 nCPM
proximal tubule cells: 181 nCPM
respiratory deuterosomal cells: 178 nCPM
oligodendrocytes: 129 nCPM
myonuclei: 128 nCPM
pituitary stem cells: 111 nCPM

Immune cell

memory B-cell: 0.6 nTPM
naive CD4 T-cell: 0.6 nTPM
MAIT T-cell: 0.4 nTPM
memory CD4 T-cell: 0.4 nTPM
memory CD8 T-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM

Brain region

white matter: 14 nTPM
thalamus: 12 nTPM
medulla oblongata: 10 nTPM
basal ganglia: 9.8 nTPM
spinal cord: 8.6 nTPM
pons: 8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RTTN.

Disease | AllUniProt

Conditions RTTN is implicated in, by any mechanism.

Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP) MIM:614833

Disease | GeneticClinVar

85 pathogenic / likely-pathogenic of 1,539 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephalic primordial dwarfism due to RTTN deficiency
Primary microcephaly
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
Microcephaly
RTTN-related disorder

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: 0.11
DepMap mean gene effect: -0.5
DepMap dependency class: selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Armadillo-like helical
Armadillo-type fold
Rotatin, N-terminal
Rotatin
Rotatin, an armadillo repeat protein, centriole functioning

KeywordsUniProt

InteractionsUniProt · HPA

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

PPP1R35

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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