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Protein

Rotatin

Gene

RTTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Rotatin
Gene namesi
Name:RTTN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:18654. RTTN.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: InterPro
  • ciliary basal body Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. MSSP patients have moderate to severe mental retardation, poor speech, dysarthria and seizures.
See also OMIM:614833
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06909427C → Y in MSSP. 1 PublicationCorresponds to variant rs201884120dbSNPEnsembl.1
Natural variantiVAR_069095932L → F in MSSP. 1 PublicationCorresponds to variant rs318240757dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi25914.
MalaCardsiRTTN.
MIMi614833. phenotype.
OpenTargetsiENSG00000176225.
Orphaneti208447. Bilateral generalized polymicrogyria.
PharmGKBiPA38622.

Polymorphism and mutation databases

BioMutaiRTTN.
DMDMi296452975.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003086121 – 2226RotatinAdd BLAST2226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei310PhosphoserineCombined sources1
Modified residuei811N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ86VV8.
MaxQBiQ86VV8.
PaxDbiQ86VV8.
PeptideAtlasiQ86VV8.
PRIDEiQ86VV8.

PTM databases

iPTMnetiQ86VV8.
PhosphoSitePlusiQ86VV8.

Expressioni

Gene expression databases

BgeeiENSG00000176225.
ExpressionAtlasiQ86VV8. baseline and differential.
GenevisibleiQ86VV8. HS.

Organism-specific databases

HPAiHPA041343.
HPA041967.

Interactioni

Protein-protein interaction databases

BioGridi117418. 3 interactors.
IntActiQ86VV8. 2 interactors.
STRINGi9606.ENSP00000255674.

Structurei

3D structure databases

ProteinModelPortaliQ86VV8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IEI0. Eukaryota.
ENOG410XRDG. LUCA.
GeneTreeiENSGT00640000091535.
HOVERGENiHBG108426.
InParanoidiQ86VV8.
KOiK16484.
OMAiCLESENQ.
OrthoDBiEOG091G01N4.
PhylomeDBiQ86VV8.
TreeFamiTF323508.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR030791. Rotatin.
IPR029249. Rotatin_N.
[Graphical view]
PANTHERiPTHR31691:SF1. PTHR31691:SF1. 1 hit.
PfamiPF14726. RTTN_N. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 9 hits.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86VV8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL
60 70 80 90 100
EWFNFPSVPM KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN
110 120 130 140 150
LQAEIDGILD GLFLLPSEVP ALSSASYQTN QTELSKNPEI LTGYFPQDKS
160 170 180 190 200
NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL TTTDRHVLSS NESSLRSSNH
210 220 230 240 250
TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA FGDGKHRLAL
260 270 280 290 300
QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
310 320 330 340 350
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV
360 370 380 390 400
HSPLDMGHID LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ
410 420 430 440 450
VIIRVLELLT EDMTLIGEAI STDIWDDSSL FGIDMKEKLL LVLGALGETM
460 470 480 490 500
CYHKSSISLE QPEVMLVHHR MAFISISLFA VRLLQTLLPV EKASEFLSEP
510 520 530 540 550
MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY KRTAEAVYSI
560 570 580 590 600
ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
610 620 630 640 650
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN
660 670 680 690 700
VTKPVSSLCN GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG
710 720 730 740 750
RLMMTALTWN KFIESLCPVI PILQGYADTE DPLGNCILLL SKASSDTEEM
760 770 780 790 800
LPCTTRLKSM LRLLLVKKPS VRSLALKLLA FHLTSEEGAD TKRPLIDARV
810 820 830 840 850
LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS DDVDLVLRKS
860 870 880 890 900
AAEQLAVIMQ DIKMHAVVKK LCLIDKIIEY LNECVSQDGK VVECLVQPCL
910 920 930 940 950
TLLRKVLCGD PVMRVSLSQQ SSLLTVLFRV SLIFHEDCSV VTEVGALFCL
960 970 980 990 1000
LLFDEVSRMD MWSVNPSNKP SLPSVFSLPV SVFRRYHLPV HVIGHHAVSP
1010 1020 1030 1040 1050
YSIVLPLSAD CLALKPVSDM LRIAWNLSWY HGSDNLLKQM NSETKTQEIL
1060 1070 1080 1090 1100
DALKLSTEDI LTLKITHMAS GLQDCLHSIV QAATHREVRA AVTRMSFYLL
1110 1120 1130 1140 1150
NDRLSLKGCP GPCGVTLKSL AWHTALNRFL QVLPACTEDE KLLIDIIHFL
1160 1170 1180 1190 1200
NKLIKEQRKN SSLELLNWIL ELLLRHSANP LLDLLVLTES QAREETDDIR
1210 1220 1230 1240 1250
TAVRQQLQKE LIALFDTLLL NFMEVTDRKC SELLYVFQTQ LALKLLQCLK
1260 1270 1280 1290 1300
VTDAPHFYGL PSLERTLRGM ANLTAFPGWS SHSPLTKPLD ICVKYLSGLL
1310 1320 1330 1340 1350
EVITSFYVER GGNAMSFMGK GVTKSTILCL LHLSHEMMAQ AGSLEWMSLW
1360 1370 1380 1390 1400
FLPLGSHSEE HIPTQQGLAW LIPLWVDRDP EVRFTSLGLG SALTTLETGC
1410 1420 1430 1440 1450
VALANSCQNI SGGLWGTVVN ILLDQSECSM VRREAAFILQ NLLVIPMPTE
1460 1470 1480 1490 1500
IIKDYTWQGP CVHDEDSGLS LIGKPALQAL LYHCHFYEHL NQMVKHCYLG
1510 1520 1530 1540 1550
RCMFDLNFSA FDRNSESNDL NGLDDSFKFW RAPSRTSQDR DPSSLSTSET
1560 1570 1580 1590 1600
TVAPSLGSTE FQPLVQSTTL LPEASHDQFV AQGHQESTSP RPPHDSSLSA
1610 1620 1630 1640 1650
PLPKLCVFVT PSLLSAMCSL LDNLLTIAPR DTAKAFRQAH LIELLCSIAD
1660 1670 1680 1690 1700
ATLIQTCVQE LRALLPSSPP AEHTQAQVSF LLEYLSSLSR LLQSCLLVEP
1710 1720 1730 1740 1750
DLVIQDELVK PLITNIIGIL TICTKDVLDK ELISAFYHTW THLFNLLAML
1760 1770 1780 1790 1800
LRKAGAITLP FVTVALAKHW TAAIDMFCTC AGLSATCPAL YTASLQFLSV
1810 1820 1830 1840 1850
LLTEEAKGHL QAKSKTHLCC SPTVASLLDD SQENQKSLEQ LSDVILQCYE
1860 1870 1880 1890 1900
GKSSKDILKR VAANALMSLL AVSRRAQKHA LKANLIDNCM EQMKHINAQL
1910 1920 1930 1940 1950
NLDSLRPGKA ALKKKEDGVI KELSIAMQLL RNCLYQNEEC KEAALEAHLV
1960 1970 1980 1990 2000
PVLHSLWPWI LMDDSLMQIS LQLLCVYTAN FPNGCSSLCW SSCGQHPVQA
2010 2020 2030 2040 2050
THRGAVSNSL MLCILKLASQ MPLENTTVQQ MVFMLLSNLA LSHDCKGVIQ
2060 2070 2080 2090 2100
KSNFLQNFLS LALPKGGNKH LSNLTILWLK LLLNISSGED GQQMILRLDG
2110 2120 2130 2140 2150
CLDLLTEMSK YKHKSSPLLP LLIFHNVCFS PANKPKILAN EKVITVLAAC
2160 2170 2180 2190 2200
LESENQNAQR IGAAALWALI YNYQKAKTAL KSPSVKRRVD EAYSLAKKTF
2210 2220
PNSEANPLNA YYLKCLENLV QLLNSS
Length:2,226
Mass (Da):248,630
Last modified:May 18, 2010 - v3
Checksum:iB58B776B42B6092B
GO
Isoform 2 (identifier: Q86VV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     601-601: I → M
     602-2226: Missing.

Note: May be due to an intron retention. No experimental confirmation available.
Show »
Length:601
Mass (Da):67,689
Checksum:iBCC0DAA69585FC86
GO
Isoform 3 (identifier: Q86VV8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2200-2200: F → P
     2201-2226: Missing.

Note: No experimental confirmation available.
Show »
Length:2,200
Mass (Da):245,690
Checksum:iCF0C97C5EBE06564
GO
Isoform 4 (identifier: Q86VV8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     861-879: DIKMHAVVKKLCLIDKIIE → GCRMFGTTMPHTLEEGFMW
     880-2226: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:879
Mass (Da):98,936
Checksum:i3FF14292E9BDF9C9
GO

Sequence cautioni

The sequence BAC86583 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC87292 differs from that shown. Aberrant splicing.Curated
The sequence BAC87292 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH18659 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti241F → FG in AK096404 (PubMed:14702039).Curated1
Sequence conflicti241F → FG in CAH18659 (PubMed:17974005).Curated1
Sequence conflicti385S → P in CAH18659 (PubMed:17974005).Curated1
Sequence conflicti402I → V in CAH18659 (PubMed:17974005).Curated1
Sequence conflicti839T → A in CAH18659 (PubMed:17974005).Curated1
Sequence conflicti1359E → G in BAC87292 (PubMed:14702039).Curated1
Sequence conflicti1587S → G in BAC86583 (PubMed:14702039).Curated1
Sequence conflicti1934L → P in AAH46222 (PubMed:15489334).Curated1
Sequence conflicti2017L → V in CAB56025 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06909427C → Y in MSSP. 1 PublicationCorresponds to variant rs201884120dbSNPEnsembl.1
Natural variantiVAR_036848126S → A.1 PublicationCorresponds to variant rs3911730dbSNPEnsembl.1
Natural variantiVAR_036849245K → R.Corresponds to variant rs17082206dbSNPEnsembl.1
Natural variantiVAR_069095932L → F in MSSP. 1 PublicationCorresponds to variant rs318240757dbSNPEnsembl.1
Natural variantiVAR_0368501742H → R.Corresponds to variant rs285227dbSNPEnsembl.1
Natural variantiVAR_0368511761F → S.1 PublicationCorresponds to variant rs4891392dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029024601I → M in isoform 2. 1 Publication1
Alternative sequenceiVSP_029025602 – 2226Missing in isoform 2. 1 PublicationAdd BLAST1625
Alternative sequenceiVSP_029026861 – 879DIKMH…DKIIE → GCRMFGTTMPHTLEEGFMW in isoform 4. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_029027880 – 2226Missing in isoform 4. 1 PublicationAdd BLAST1347
Alternative sequenceiVSP_0290302200F → P in isoform 3. 2 Publications1
Alternative sequenceiVSP_0290312201 – 2226Missing in isoform 3. 2 PublicationsAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096404 mRNA. No translation available.
AK126538 mRNA. Translation: BAC86583.1. Different initiation.
AK128137 mRNA. Translation: BAC87292.1. Sequence problems.
AC011930 Genomic DNA. No translation available.
AC021701 Genomic DNA. No translation available.
AL117635 mRNA. Translation: CAB56025.2.
CR749799 mRNA. Translation: CAH18659.1. Different initiation.
BC007359 mRNA. Translation: AAH07359.2.
BC026879 mRNA. Translation: AAH26879.1.
BC046222 mRNA. Translation: AAH46222.2.
BC047602 mRNA. Translation: AAH47602.1.
CCDSiCCDS42443.1. [Q86VV8-1]
PIRiT17335.
RefSeqiNP_001305449.1. NM_001318520.1.
NP_775901.3. NM_173630.3. [Q86VV8-1]
UniGeneiHs.654809.

Genome annotation databases

EnsembliENST00000255674; ENSP00000255674; ENSG00000176225. [Q86VV8-1]
GeneIDi25914.
KEGGihsa:25914.
UCSCiuc002lkp.4. human. [Q86VV8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096404 mRNA. No translation available.
AK126538 mRNA. Translation: BAC86583.1. Different initiation.
AK128137 mRNA. Translation: BAC87292.1. Sequence problems.
AC011930 Genomic DNA. No translation available.
AC021701 Genomic DNA. No translation available.
AL117635 mRNA. Translation: CAB56025.2.
CR749799 mRNA. Translation: CAH18659.1. Different initiation.
BC007359 mRNA. Translation: AAH07359.2.
BC026879 mRNA. Translation: AAH26879.1.
BC046222 mRNA. Translation: AAH46222.2.
BC047602 mRNA. Translation: AAH47602.1.
CCDSiCCDS42443.1. [Q86VV8-1]
PIRiT17335.
RefSeqiNP_001305449.1. NM_001318520.1.
NP_775901.3. NM_173630.3. [Q86VV8-1]
UniGeneiHs.654809.

3D structure databases

ProteinModelPortaliQ86VV8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117418. 3 interactors.
IntActiQ86VV8. 2 interactors.
STRINGi9606.ENSP00000255674.

PTM databases

iPTMnetiQ86VV8.
PhosphoSitePlusiQ86VV8.

Polymorphism and mutation databases

BioMutaiRTTN.
DMDMi296452975.

Proteomic databases

EPDiQ86VV8.
MaxQBiQ86VV8.
PaxDbiQ86VV8.
PeptideAtlasiQ86VV8.
PRIDEiQ86VV8.

Protocols and materials databases

DNASUi25914.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255674; ENSP00000255674; ENSG00000176225. [Q86VV8-1]
GeneIDi25914.
KEGGihsa:25914.
UCSCiuc002lkp.4. human. [Q86VV8-1]

Organism-specific databases

CTDi25914.
DisGeNETi25914.
GeneCardsiRTTN.
H-InvDBHIX0014515.
HGNCiHGNC:18654. RTTN.
HPAiHPA041343.
HPA041967.
MalaCardsiRTTN.
MIMi610436. gene.
614833. phenotype.
neXtProtiNX_Q86VV8.
OpenTargetsiENSG00000176225.
Orphaneti208447. Bilateral generalized polymicrogyria.
PharmGKBiPA38622.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEI0. Eukaryota.
ENOG410XRDG. LUCA.
GeneTreeiENSGT00640000091535.
HOVERGENiHBG108426.
InParanoidiQ86VV8.
KOiK16484.
OMAiCLESENQ.
OrthoDBiEOG091G01N4.
PhylomeDBiQ86VV8.
TreeFamiTF323508.

Miscellaneous databases

ChiTaRSiRTTN. human.
GenomeRNAii25914.
PROiQ86VV8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176225.
ExpressionAtlasiQ86VV8. baseline and differential.
GenevisibleiQ86VV8. HS.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR030791. Rotatin.
IPR029249. Rotatin_N.
[Graphical view]
PANTHERiPTHR31691:SF1. PTHR31691:SF1. 1 hit.
PfamiPF14726. RTTN_N. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 9 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiRTTN_HUMAN
AccessioniPrimary (citable) accession number: Q86VV8
Secondary accession number(s): Q68CS9
, Q6ZRL8, Q6ZTK3, Q86TG4, Q8N8N8, Q8TBQ4, Q96IN9, Q9UFJ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 101 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.