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Protein

Tetratricopeptide repeat protein 30B

Gene

TTC30B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 30B
Short name:
TPR repeat protein 30B
Gene namesi
Name:TTC30B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26425. TTC30B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145147835.

Polymorphism and mutation databases

BioMutaiTTC30B.
DMDMi313104039.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 665665Tetratricopeptide repeat protein 30BPRO_0000333201Add
BLAST

Proteomic databases

MaxQBiQ8N4P2.
PaxDbiQ8N4P2.
PeptideAtlasiQ8N4P2.
PRIDEiQ8N4P2.

PTM databases

iPTMnetiQ8N4P2.
PhosphoSiteiQ8N4P2.

Expressioni

Gene expression databases

BgeeiENSG00000196659.
CleanExiHS_TTC30B.
GenevisibleiQ8N4P2. HS.

Organism-specific databases

HPAiHPA051714.
HPA052100.
HPA052487.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
B9D2Q9BPU92EBI-6958994,EBI-6958971
Ift52Q625592EBI-6958994,EBI-6959048From a different organism.

Protein-protein interaction databases

BioGridi127321. 20 interactions.
IntActiQ8N4P2. 3 interactions.
MINTiMINT-8201091.
STRINGi9606.ENSP00000386181.

Structurei

3D structure databases

ProteinModelPortaliQ8N4P2.
SMRiQ8N4P2. Positions 9-660.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati11 – 4434TPR 1Add
BLAST
Repeati45 – 7834TPR 2Add
BLAST
Repeati154 – 18734TPR 3Add
BLAST
Repeati189 – 22133TPR 4Add
BLAST
Repeati393 – 42432TPR 5Add
BLAST
Repeati425 – 45733TPR 6Add
BLAST
Repeati459 – 49234TPR 7Add
BLAST
Repeati544 – 57734TPR 8Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili508 – 53528Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi326 – 3294Poly-Leu

Sequence similaritiesi

Belongs to the TTC30/dfy-1/fleer family.Curated
Contains 8 TPR repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG4340. Eukaryota.
ENOG410XNQ1. LUCA.
GeneTreeiENSGT00390000010116.
HOGENOMiHOG000258608.
HOVERGENiHBG061770.
InParanoidiQ8N4P2.
KOiK19683.
OMAiCITSFGE.
OrthoDBiEOG091G03OT.
PhylomeDBiQ8N4P2.
TreeFamiTF314592.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
SMARTiSM00028. TPR. 4 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 6 hits.
PROSITEiPS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N4P2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGLSGAQIP DGEFTAVVYR LIRNARYAEA VQLLGGELQR SPRSRAGLSL
60 70 80 90 100
LGYCYYRLQE FALAAECYEQ LGQLHPELEQ YRLYQAQALY KACLYAEATR
110 120 130 140 150
VAFLLLDNPA YHSRVLRLQA AIKYSEGDLP GSRSLVEQLP SREGGEESGG
160 170 180 190 200
ENETDGQINL GCLLYKEGQY EAACSKFFAA LQASGYQPDL SYNLALAYYS
210 220 230 240 250
SRQYASALKH IAEIIERGIR QHPELGVGMT TEGIDVRSVG NTLVLHQTAL
260 270 280 290 300
VEAFNLKAAI EYQLRNYEAA QEALTDMPPR AEEELDPVTL HNQALMNMDA
310 320 330 340 350
RPTEGFEKLQ FLLQQNPFPP ETFGNLLLLY CKYEYFDLAA DVLAENAHLI
360 370 380 390 400
YKFLTPYLYD FLDAVITCQT APEEAFIKLD GLAGMLTEVL RKLTIQVQEA
410 420 430 440 450
RHNRDDEAIK KAVNEYDETM EKYIPVLMAQ AKIYWNLENY PMVEKIFRKS
460 470 480 490 500
VEFCNDHDVW KLNVAHVLFM QENKYKEAIG FYEPIVKKHY DNILNVSAIV
510 520 530 540 550
LANLCVSYIM TSQNEEAEEL MRKIEKEEEQ LSYDDPDKKM YHLCIVNLVI
560 570 580 590 600
GTLYCAKGNY DFGISRVIKS LEPYNKKLGT DTWYYAKRCF LSLLENMSKH
610 620 630 640 650
TIMLRDSVIQ ECVQFLEHCE LHGRNIPAVI EQPLEEERMH VGKNTVTYES
660
RQLKALIYEI IGWNI
Length:665
Mass (Da):76,099
Last modified:November 30, 2010 - v2
Checksum:iEE0C5DE820CFB84D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti94 – 941L → F in BAB70953 (PubMed:14702039).Curated
Sequence conflicti165 – 19127Missing in BAB70953 (PubMed:14702039).CuratedAdd
BLAST
Sequence conflicti366 – 3661I → T in BAB70953 (PubMed:14702039).Curated
Sequence conflicti459 – 4591V → L in CAH56200 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti117 – 1171R → H.3 Publications
Corresponds to variant rs11694988 [ dbSNP | Ensembl ].
VAR_043124
Natural varianti446 – 4461I → V.
Corresponds to variant rs2695315 [ dbSNP | Ensembl ].
VAR_043125

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055552 mRNA. Translation: BAB70953.1.
AC073834 Genomic DNA. No translation available.
CH471058 mRNA. Translation: EAX11054.1.
BC033795 mRNA. Translation: AAH33795.1.
BX647620 mRNA. Translation: CAH56200.1.
CCDSiCCDS42784.1.
RefSeqiNP_689730.2. NM_152517.2.
UniGeneiHs.128384.
Hs.447659.

Genome annotation databases

EnsembliENST00000408939; ENSP00000386181; ENSG00000196659.
GeneIDi150737.
KEGGihsa:150737.
UCSCiuc002uln.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055552 mRNA. Translation: BAB70953.1.
AC073834 Genomic DNA. No translation available.
CH471058 mRNA. Translation: EAX11054.1.
BC033795 mRNA. Translation: AAH33795.1.
BX647620 mRNA. Translation: CAH56200.1.
CCDSiCCDS42784.1.
RefSeqiNP_689730.2. NM_152517.2.
UniGeneiHs.128384.
Hs.447659.

3D structure databases

ProteinModelPortaliQ8N4P2.
SMRiQ8N4P2. Positions 9-660.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127321. 20 interactions.
IntActiQ8N4P2. 3 interactions.
MINTiMINT-8201091.
STRINGi9606.ENSP00000386181.

PTM databases

iPTMnetiQ8N4P2.
PhosphoSiteiQ8N4P2.

Polymorphism and mutation databases

BioMutaiTTC30B.
DMDMi313104039.

Proteomic databases

MaxQBiQ8N4P2.
PaxDbiQ8N4P2.
PeptideAtlasiQ8N4P2.
PRIDEiQ8N4P2.

Protocols and materials databases

DNASUi150737.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000408939; ENSP00000386181; ENSG00000196659.
GeneIDi150737.
KEGGihsa:150737.
UCSCiuc002uln.4. human.

Organism-specific databases

CTDi150737.
GeneCardsiTTC30B.
H-InvDBHIX0002624.
HGNCiHGNC:26425. TTC30B.
HPAiHPA051714.
HPA052100.
HPA052487.
neXtProtiNX_Q8N4P2.
PharmGKBiPA145147835.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4340. Eukaryota.
ENOG410XNQ1. LUCA.
GeneTreeiENSGT00390000010116.
HOGENOMiHOG000258608.
HOVERGENiHBG061770.
InParanoidiQ8N4P2.
KOiK19683.
OMAiCITSFGE.
OrthoDBiEOG091G03OT.
PhylomeDBiQ8N4P2.
TreeFamiTF314592.

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.

Miscellaneous databases

GenomeRNAii150737.
PROiQ8N4P2.

Gene expression databases

BgeeiENSG00000196659.
CleanExiHS_TTC30B.
GenevisibleiQ8N4P2. HS.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
SMARTiSM00028. TPR. 4 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 6 hits.
PROSITEiPS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTT30B_HUMAN
AccessioniPrimary (citable) accession number: Q8N4P2
Secondary accession number(s): Q63HQ1, Q96NE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: November 30, 2010
Last modified: September 7, 2016
This is version 119 of the entry and version 2 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 2
    Human chromosome 2: 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.