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Protein

Trinucleotide repeat-containing gene 18 protein

Gene

TNRC18

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31941-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Trinucleotide repeat-containing gene 18 protein
Alternative name(s):
Long CAG trinucleotide repeat-containing gene 79 protein
Gene namesi
Name:TNRC18
Synonyms:CAGL79, KIAA1856
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:11962. TNRC18.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000182095.
PharmGKBiPA36649.

Polymorphism and mutation databases

BioMutaiTNRC18.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002991421 – 2968Trinucleotide repeat-containing gene 18 proteinAdd BLAST2968

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei263PhosphoserineCombined sources1
Modified residuei611PhosphoserineBy similarity1
Modified residuei1127PhosphoserineCombined sources1
Modified residuei1136PhosphoserineCombined sources1
Modified residuei1540PhosphoserineCombined sources1
Modified residuei1857PhosphoserineCombined sources1
Modified residuei1863PhosphoserineCombined sources1
Modified residuei2146PhosphothreonineCombined sources1
Modified residuei2771PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15417.
MaxQBiO15417.
PaxDbiO15417.
PeptideAtlasiO15417.
PRIDEiO15417.

PTM databases

iPTMnetiO15417.
PhosphoSitePlusiO15417.

Expressioni

Gene expression databases

BgeeiENSG00000182095.
CleanExiHS_TNRC18.
ExpressionAtlasiO15417. baseline and differential.
GenevisibleiO15417. HS.

Organism-specific databases

HPAiHPA020730.
HPA024251.

Interactioni

Protein-protein interaction databases

BioGridi124158. 17 interactors.
IntActiO15417. 11 interactors.
MINTiMINT-8304675.
STRINGi9606.ENSP00000395538.

Structurei

3D structure databases

ProteinModelPortaliO15417.
SMRiO15417.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2817 – 2962BAHPROSITE-ProRule annotationAdd BLAST146

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili916 – 949Sequence analysisAdd BLAST34
Coiled coili1481 – 1516Sequence analysisAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi326 – 506Pro-richAdd BLAST181
Compositional biasi968 – 1192Pro-richAdd BLAST225
Compositional biasi1828 – 1841Poly-GluAdd BLAST14
Compositional biasi2353 – 2437Pro-richAdd BLAST85
Compositional biasi2557 – 2681Ser-richAdd BLAST125

Sequence similaritiesi

Contains 1 BAH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IUIV. Eukaryota.
ENOG410YZ4H. LUCA.
GeneTreeiENSGT00530000063602.
HOGENOMiHOG000154656.
HOVERGENiHBG108592.
InParanoidiO15417.
OrthoDBiEOG091G0071.
PhylomeDBiO15417.
TreeFamiTF336007.

Family and domain databases

InterProiIPR001025. BAH_dom.
[Graphical view]
PfamiPF01426. BAH. 1 hit.
[Graphical view]
SMARTiSM00439. BAH. 1 hit.
[Graphical view]
PROSITEiPS51038. BAH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O15417-1) [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
MDGRDFGPQR SVHGPPPPLL SGLAMDSHRV GAATAGRLPA SGLPGPLPPG
60 70 80 90 100
KYMAGLNLHP HPGEAFLGSF VASGMGPSAS SHGSPVPLPS DLSFRSPTPS
110 120 130 140 150
NLPMVQLWAA HAHEGFSHLP SGLYPSYLHL NHLEPPSSGS PLLSQLGQPS
160 170 180 190 200
IFDTQKGQGP GGDGFYLPTA GAPGSLHSHA PSARTPGGGH SSGAPAKGSS
210 220 230 240 250
SRDGPAKERA GRGGEPPPLF GKKDPRARGE EASGPRGVVD LTQEARAEGR
260 270 280 290 300
QDRGPPRLAE RLSPFLAESK TKNAALQPSV LTMCNGGAGD VGLPALVAEA
310 320 330 340 350
GRGGAKEAAR QDEGARLLRR TETLLPGPRP CPSPLPPPPA PPKGPPAPPA
360 370 380 390 400
ATPAGVYTVF REQGREHRVV APTFVPSVEA FDERPGPIQI ASQARDARAR
410 420 430 440 450
EREAGRPGVL QAPPGSPRPL DRPEGLREKN SVIRSLKRPP PADAPTVRAT
460 470 480 490 500
RASPDPRAYV PAKELLKPEA DPRPCERAPR GPAGPAAQQA AKLFGLEPGR
510 520 530 540 550
PPPTGPEHKW KPFELGNFAA TQMAVLAAQH HHSRAEEEAA VVAASSSKKA
560 570 580 590 600
YLDPGAVLPR SAATCGRPVA DMHSAAHGSG EASAMQSLIK YSGSFARDAV
610 620 630 640 650
AVRPGGCGKK SPFGGLGTMK PEPAPTSAGA SRAQARLPHS GGPAAGGGRQ
660 670 680 690 700
LKRDPERPES AKAFGREGSG AQGEAEVRHP PVGIAVAVAR QKDSGGSGRL
710 720 730 740 750
GPGLVDQERS LSLSNVKGHG RADEDCVDDR ARHREERLLG ARLDRDQEKL
760 770 780 790 800
LRESKELADL ARLHPTSCAP NGLNPNLMVT GGPALAGSGR WSADPAAHLA
810 820 830 840 850
THPWLPRSGN ASMWLAGHPY GLGPPSLHQG MAPAFPPGLG GSLPSAYQFV
860 870 880 890 900
RDPQSGQLVV IPSDHLPHFA ELMERATVPP LWPALYPPGR SPLHHAQQLQ
910 920 930 940 950
LFSQQHFLRQ QEFLYLQQQA AQALELQRSA QLVQERLKAQ EHRAEMEEKG
960 970 980 990 1000
SKRGLEAAGK AGLATAGPGL LPRKPPGLAA GPAGTYGKAV SPPPSPRASP
1010 1020 1030 1040 1050
VAALKAKVIQ KLEDVSKPPA YAYPATPSSH PTSPPPASPP PTPGITRKEE
1060 1070 1080 1090 1100
APENVVEKKD LELEKEAPSP FQALFSDIPP RYPFQALPPH YGRPYPFLLQ
1110 1120 1130 1140 1150
PTAAADADGL APDVPLPADG PERLALSPED KPIRLSPSKI TEPLREGPEE
1160 1170 1180 1190 1200
EPLAEREVKA EVEDMDEGPT ELPPLESPLP LPAAEAMATP SPAGGCGGGL
1210 1220 1230 1240 1250
LEAQALSATG QSCAEPSECP DFVEGPEPRV DSPGRTEPCT AALDLGVQLT
1260 1270 1280 1290 1300
PETLVEAKEE PVEVPVAVPV VEAVPEEGLA QVAPSESQPT LEMSDCDVPA
1310 1320 1330 1340 1350
GEGQCPSLEP QEAVPVLGST CFLEEASSDQ FLPSLEDPLA GMNALAAAAE
1360 1370 1380 1390 1400
LPQARPLPSP GAAGAQALEK LEAAESLVLE QSFLHGITLL SEIAELELER
1410 1420 1430 1440 1450
RSQEMGGAER ALVARPSLES LLAAGSHMLR EVLDGPVVDP LKNLRLPREL
1460 1470 1480 1490 1500
KPNKKYSWMR KKEERMYAMK SSLEDMDALE LDFRMRLAEV QRQYKEKQRE
1510 1520 1530 1540 1550
LVKLQRRRDS EDRREEPHRS LARRGPGRPR KRTHAPSALS PPRKRGKSGH
1560 1570 1580 1590 1600
SSGKLSSKSL LTSDDYELGA GIRKRHKGSE EEHDALIGMG KARGRNQTWD
1610 1620 1630 1640 1650
EHEASSDFIS QLKIKKKKMA SDQEQLASKL DKALSLTKQD KLKSPFKFSD
1660 1670 1680 1690 1700
SAGGKSKTSG GCGRYLTPYD SLLGKNRKAL AKGLGLSLKS SREGKHKRAA
1710 1720 1730 1740 1750
KTRKMEVGFK ARGQPKSAHS PFASEVSSYS YNTDSEEDEE FLKDEWPAQG
1760 1770 1780 1790 1800
PSSSKLTPSL LCSMVAKNSK AAGGPKLTKR GLAAPRTLKP KPATSRKQPF
1810 1820 1830 1840 1850
CLLLREAEAR SSFSDSSEES FDQDESSEEE DEEEELEEED EASGGGYRLG
1860 1870 1880 1890 1900
ARERALSPGL EESGLGLLAR FAASALPSPT VGPSLSVVQL EAKQKARKKE
1910 1920 1930 1940 1950
ERQSLLGTEF EYTDSESEVK VRKRSPAGLL RPKKGLGEPG PSLAAPTPGA
1960 1970 1980 1990 2000
RGPDPSSPDK AKLAVEKGRK ARKLRGPKEP GFEAGPEASD DDLWTRRRSE
2010 2020 2030 2040 2050
RIFLHDASAA APAPVSTAPA TKTSRCAKGG PLSPRKDAGR AKDRKDPRKK
2060 2070 2080 2090 2100
KKGKEAGPGA GLPPPRAPAL PSEARAPHAS SLTAAKRSKA KAKGKEVKKE
2110 2120 2130 2140 2150
NRGKGGAVSK LMESMAAEED FEPNQDSSFS EDEHLPRGGA VERPLTPAPR
2160 2170 2180 2190 2200
SCIIDKDELK DGLRVLIPMD DKLLYAGHVQ TVHSPDIYRV VVEGERGNRP
2210 2220 2230 2240 2250
HIYCLEQLLQ EAIIDVRPAS TRFLPQGTRI AAYWSQQYRC LYPGTVVRGL
2260 2270 2280 2290 2300
LDLEDDGDLI TVEFDDGDTG RIPLSHIRLL PPDYKIQCAE PSPALLVPSA
2310 2320 2330 2340 2350
KRRSRKTSKD TGEGKDGGTA GSEEPGAKAR GRGRKPSAKA KGDRAATLEE
2360 2370 2380 2390 2400
GNPTDEVPST PLALEPSSTP GSKKSPPEPV DKRAKAPKAR PAPPQPSPAP
2410 2420 2430 2440 2450
PAFTSCPAPE PFAELPAPAT SLAPAPLITM PATRPKPKKA RAAEESGAKG
2460 2470 2480 2490 2500
PRRPGEEAEL LVKLDHEGVT SPKSKKAKEA LLLREDPGAG GWQEPKSLLS
2510 2520 2530 2540 2550
LGSYPPAAGS SEPKAPWPKA TDGDLAQEPG PGLTFEDSGN PKSPDKAQAE
2560 2570 2580 2590 2600
QDGAEESESS SSSSSGSSSS SSSSSSSGSE TEGEEEGDKN GDGGCGTGGR
2610 2620 2630 2640 2650
NCSAASSRAA SPASSSSSSS SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS
2660 2670 2680 2690 2700
SSSSSSSSSS SSSSSSSSSS STTDEDSSCS SDDEAAPAPT AGPSAQAALP
2710 2720 2730 2740 2750
TKATKQAGKA RPSAHSPGKK TPAPQPQAPP PQPTQPLQPK AQAGAKSRPK
2760 2770 2780 2790 2800
KREGVHLPTT KELAKRQRLP SVENRPKIAA FLPARQLWKW FGKPTQRRGM
2810 2820 2830 2840 2850
KGKARKLFYK AIVRGKEMIR IGDCAVFLSA GRPNLPYIGR IQSMWESWGN
2860 2870 2880 2890 2900
NMVVRVKWFY HPEETSPGKQ FHQGQHWDQK SSRSLPAALR VSSQRKDFME
2910 2920 2930 2940 2950
RALYQSSHVD ENDVQTVSHK CLVVGLEQYE QMLKTKKYQD SEGLYYLAGT
2960
YEPTTGMIFS TDGVPVLC
Length:2,968
Mass (Da):314,519
Last modified:April 29, 2008 - v3
Checksum:iC83E5D7E3245740F
GO
Isoform 2 (identifier: O15417-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2078-2256: HASSLTAAKR...VRGLLDLEDD → PPPPPPPPHP...GSASPPSGVA
     2257-2968: Missing.

Note: No experimental confirmation available. Dubious isoform produced through aberrant splice sites.
Show »
Length:2,256
Mass (Da):239,498
Checksum:i476F448917A3B6BE
GO
Isoform 3 (identifier: O15417-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1064: Missing.
     1403-1490: QEMGGAERAL...LDFRMRLAEV → PPQGLPPCMG...PSHYRKPQWC
     1491-2968: Missing.

Note: Incomplete sequence. No experimental confirmation available. Non-canonical intron-exon splice junction.
Show »
Length:414
Mass (Da):43,329
Checksum:i3BA1027E95500505
GO

Sequence cautioni

The sequence BAB55047 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1255V → A in BAB55047 (PubMed:14702039).Curated1
Sequence conflicti1267A → G in BAB47485 (PubMed:11347906).Curated1
Sequence conflicti1343N → S in BAB55047 (PubMed:14702039).Curated1
Sequence conflicti2292S → P in AAB91447 (PubMed:9225980).Curated1
Sequence conflicti2411P → S in AAB91447 (PubMed:9225980).Curated1
Sequence conflicti2547A → V in AAB91447 (PubMed:9225980).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0427221193A → G.Corresponds to variant rs12671708dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0331241 – 1064Missing in isoform 3. 1 PublicationAdd BLAST1064
Alternative sequenceiVSP_0331281403 – 1490QEMGG…RLAEV → PPQGLPPCMGQGSPMPAGLP DCARGPAPTLSGWPRLGEQS RVGLQPGVSVKGTRWRGPGT GPPWSKPSHYRKPQWC in isoform 3. 1 PublicationAdd BLAST88
Alternative sequenceiVSP_0331291491 – 2968Missing in isoform 3. 1 PublicationAdd BLAST1478
Alternative sequenceiVSP_0331262078 – 2256HASSL…DLEDD → PPPPPPPPHPPLPPPPLPPP PLPLRLPPLPPPPLPRPHPP PPPPLPPLLPPPQTRTLPAA RTMRQPPPPRLALPRRRRSP PRPPSRPARRGPRPTPQARR RPRPSPRRLLRSPHSLCSPR LRPGPRADPRRERASTSPPP RSWPSGSACRPWRTGPRSPP SCQPGSSGSGSASPPSGVA in isoform 2. 1 PublicationAdd BLAST179
Alternative sequenceiVSP_0331272257 – 2968Missing in isoform 2. 1 PublicationAdd BLAST712

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093376 Genomic DNA. No translation available.
AC093620 Genomic DNA. No translation available.
AK027341 mRNA. Translation: BAB55047.1. Different initiation.
AB058759 mRNA. Translation: BAB47485.1.
U80753 mRNA. Translation: AAB91447.1.
CCDSiCCDS47534.1. [O15417-1]
RefSeqiNP_001073964.2. NM_001080495.2. [O15417-1]
UniGeneiHs.520638.

Genome annotation databases

EnsembliENST00000430969; ENSP00000395538; ENSG00000182095. [O15417-1]
GeneIDi84629.
KEGGihsa:84629.
UCSCiuc003soi.5. human. [O15417-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093376 Genomic DNA. No translation available.
AC093620 Genomic DNA. No translation available.
AK027341 mRNA. Translation: BAB55047.1. Different initiation.
AB058759 mRNA. Translation: BAB47485.1.
U80753 mRNA. Translation: AAB91447.1.
CCDSiCCDS47534.1. [O15417-1]
RefSeqiNP_001073964.2. NM_001080495.2. [O15417-1]
UniGeneiHs.520638.

3D structure databases

ProteinModelPortaliO15417.
SMRiO15417.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124158. 17 interactors.
IntActiO15417. 11 interactors.
MINTiMINT-8304675.
STRINGi9606.ENSP00000395538.

PTM databases

iPTMnetiO15417.
PhosphoSitePlusiO15417.

Polymorphism and mutation databases

BioMutaiTNRC18.

Proteomic databases

EPDiO15417.
MaxQBiO15417.
PaxDbiO15417.
PeptideAtlasiO15417.
PRIDEiO15417.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000430969; ENSP00000395538; ENSG00000182095. [O15417-1]
GeneIDi84629.
KEGGihsa:84629.
UCSCiuc003soi.5. human. [O15417-1]

Organism-specific databases

CTDi84629.
GeneCardsiTNRC18.
H-InvDBHIX0200690.
HGNCiHGNC:11962. TNRC18.
HPAiHPA020730.
HPA024251.
neXtProtiNX_O15417.
OpenTargetsiENSG00000182095.
PharmGKBiPA36649.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUIV. Eukaryota.
ENOG410YZ4H. LUCA.
GeneTreeiENSGT00530000063602.
HOGENOMiHOG000154656.
HOVERGENiHBG108592.
InParanoidiO15417.
OrthoDBiEOG091G0071.
PhylomeDBiO15417.
TreeFamiTF336007.

Enzyme and pathway databases

BioCyciZFISH:G66-31941-MONOMER.

Miscellaneous databases

ChiTaRSiTNRC18. human.
GenomeRNAii84629.
PROiO15417.

Gene expression databases

BgeeiENSG00000182095.
CleanExiHS_TNRC18.
ExpressionAtlasiO15417. baseline and differential.
GenevisibleiO15417. HS.

Family and domain databases

InterProiIPR001025. BAH_dom.
[Graphical view]
PfamiPF01426. BAH. 1 hit.
[Graphical view]
SMARTiSM00439. BAH. 1 hit.
[Graphical view]
PROSITEiPS51038. BAH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTNC18_HUMAN
AccessioniPrimary (citable) accession number: O15417
Secondary accession number(s): A8MX41, Q96JH1, Q96K91
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: April 29, 2008
Last modified: November 30, 2016
This is version 120 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 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families

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.