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Protein

Tetratricopeptide repeat protein 25

Gene

TTC25

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

Functioni

Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 25
Short name:
TPR repeat protein 25
Gene namesi
Name:TTC25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:25280. TTC25.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 35 (CILD35)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive.
See also OMIM:617092

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

MIMi617092. phenotype.
OpenTargetsiENSG00000204815.
PharmGKBiPA142670677.

Polymorphism and mutation databases

BioMutaiTTC25.
DMDMi145572736.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002845071 – 672Tetratricopeptide repeat protein 25Add BLAST672

Proteomic databases

MaxQBiQ96NG3.
PeptideAtlasiQ96NG3.
PRIDEiQ96NG3.

PTM databases

iPTMnetiQ96NG3.
PhosphoSitePlusiQ96NG3.

Expressioni

Tissue specificityi

Expressed in the nasal mucosa (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000260703.
CleanExiHS_TTC25.
ExpressionAtlasiQ96NG3. baseline and differential.
GenevisibleiQ96NG3. HS.

Organism-specific databases

HPAiHPA023908.

Interactioni

Subunit structurei

Interacts with CCDC114 (PubMed:27486780). Interacts with components of the IFT complex A, including IFT140, TTC21B/IFT139 and WDR19/IFT144, and the IFT complex B, including IFT46, IFT52 and IFT57 (PubMed:25860617).2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi123671. 20 interactors.
IntActiQ96NG3. 10 interactors.
MINTiMINT-4716261.

Structurei

3D structure databases

ProteinModelPortaliQ96NG3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati13 – 46TPR 1Add BLAST34
Repeati48 – 80TPR 2Add BLAST33
Repeati81 – 114TPR 3Add BLAST34
Repeati275 – 311TPR 4Add BLAST37
Repeati320 – 353TPR 5Add BLAST34
Repeati360 – 393TPR 6Add BLAST34
Repeati397 – 430TPR 7Add BLAST34
Repeati437 – 470TPR 8Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

GeneTreeiENSGT00390000007911.
HOGENOMiHOG000068108.
HOVERGENiHBG106810.
InParanoidiQ96NG3.
OMAiSMEDIDM.
OrthoDBiEOG090705IP.
PhylomeDBiQ96NG3.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiView protein in InterPro
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
PfamiView protein in Pfam
PF13181. TPR_8. 1 hit.
SMARTiView protein in SMART
SM00028. TPR. 7 hits.
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiView protein in PROSITE
PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96NG3-1) [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
MSDPEGETLR STFPSYMAEG ERLYLCGEFS KAAQSFSNAL YLQDGDKNCL
60 70 80 90 100
VARSKCFLKM GDLERSLKDA EASLQSDPAF CKGILQKAET LYTMGDFEFA
110 120 130 140 150
LVFYHRGYKL RPDREFRVGI QKAQEAINNS VGSPSSIKLE NKGDLSFLSK
160 170 180 190 200
QAENIKAQQK PQPMKHLLHP TKGEPKWKAS LKSEKTVRQL LGELYVDKEY
210 220 230 240 250
LEKLLLDEDL IKGTMKGGLT VEDLIMTGIN YLDTHSNFWR QQKPIYARER
260 270 280 290 300
DRKLMQEKWL RDHKRRPSQT AHYILKSLED IDMLLTSGSA EGSLQKAEKV
310 320 330 340 350
LKKVLEWNKE EVPNKDELVG NLYSCIGNAQ IELGQMEAAL QSHRKDLEIA
360 370 380 390 400
KEYDLPDAKS RALDNIGRVF ARVGKFQQAI DTWEEKIPLA KTTLEKTWLF
410 420 430 440 450
HEIGRCYLEL DQAWQAQNYG EKSQQCAEEE GDIEWQLNAS VLVAQAQVKL
460 470 480 490 500
RDFESAVNNF EKALERAKLV HNNEAQQAII SALDDANKGI IRELRKTNYV
510 520 530 540 550
ENLKEKSEGE ASLYEDRIIT REKDMRRVRD EPEKVVKQWD HSEDEKETDE
560 570 580 590 600
DDEAFGEALQ SPASGKQSVE AGKARSDLGA VAKGLSGELG TRSGETGRKL
610 620 630 640 650
LEAGRRESRE IYRRPSGELE QRLSGEFSRQ EPEELKKLSE VGRREPEELG
660 670
KTQFGEIGET KKTGNEMEKE YE
Length:672
Mass (Da):76,655
Last modified:April 17, 2007 - v2
Checksum:i15683F576C1DAC35
GO
Isoform 2 (identifier: Q96NG3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-292: DLIKGTMKGG...MLLTSGSAEG → VTFLMQNREP...PRRKGTLSGN
     293-672: Missing.

Note: No experimental confirmation available.
Show »
Length:292
Mass (Da):33,043
Checksum:i70B66ADD5BA664A6
GO

Sequence cautioni

The sequence AAH67297 differs from that shown. Reason: Frameshift at position 661.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti43Q → K in AAH25390 (PubMed:15489334).Curated1
Sequence conflicti244P → L in BAB70936 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0317584P → S. Corresponds to variant dbSNP:rs34516580Ensembl.1
Natural variantiVAR_03175918A → G. Corresponds to variant dbSNP:rs35516909Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024548209 – 292DLIKG…GSAEG → VTFLMQNREPLTTLAEFLPE LGNSSKPLTRGKKRSLWQKP PWRRPGCSTRSAAATWSWTR PGRPRIMARSPSSVPRRKGT LSGN in isoform 2. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_024549293 – 672Missing in isoform 2. 1 PublicationAdd BLAST380

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136760 mRNA. Translation: CAB66694.1.
AK055498 mRNA. Translation: BAB70936.1.
BC025390 mRNA. Translation: AAH25390.1.
BC067297 mRNA. Translation: AAH67297.1. Frameshift.
CCDSiCCDS74063.1. [Q96NG3-1]
RefSeqiNP_113609.1. NM_031421.3. [Q96NG3-1]
UniGeneiHs.201134.

Genome annotation databases

EnsembliENST00000377540; ENSP00000478589; ENSG00000204815. [Q96NG3-1]
GeneIDi83538.
KEGGihsa:83538.
UCSCiuc032fin.2. human. [Q96NG3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136760 mRNA. Translation: CAB66694.1.
AK055498 mRNA. Translation: BAB70936.1.
BC025390 mRNA. Translation: AAH25390.1.
BC067297 mRNA. Translation: AAH67297.1. Frameshift.
CCDSiCCDS74063.1. [Q96NG3-1]
RefSeqiNP_113609.1. NM_031421.3. [Q96NG3-1]
UniGeneiHs.201134.

3D structure databases

ProteinModelPortaliQ96NG3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123671. 20 interactors.
IntActiQ96NG3. 10 interactors.
MINTiMINT-4716261.

PTM databases

iPTMnetiQ96NG3.
PhosphoSitePlusiQ96NG3.

Polymorphism and mutation databases

BioMutaiTTC25.
DMDMi145572736.

Proteomic databases

MaxQBiQ96NG3.
PeptideAtlasiQ96NG3.
PRIDEiQ96NG3.

Protocols and materials databases

DNASUi83538.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377540; ENSP00000478589; ENSG00000204815. [Q96NG3-1]
GeneIDi83538.
KEGGihsa:83538.
UCSCiuc032fin.2. human. [Q96NG3-1]

Organism-specific databases

CTDi83538.
GeneCardsiTTC25.
HGNCiHGNC:25280. TTC25.
HPAiHPA023908.
MIMi617092. phenotype.
617095. gene.
neXtProtiNX_Q96NG3.
OpenTargetsiENSG00000204815.
PharmGKBiPA142670677.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000007911.
HOGENOMiHOG000068108.
HOVERGENiHBG106810.
InParanoidiQ96NG3.
OMAiSMEDIDM.
OrthoDBiEOG090705IP.
PhylomeDBiQ96NG3.

Miscellaneous databases

GeneWikiiTTC25.
GenomeRNAii83538.
PROiQ96NG3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000260703.
CleanExiHS_TTC25.
ExpressionAtlasiQ96NG3. baseline and differential.
GenevisibleiQ96NG3. HS.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiView protein in InterPro
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
PfamiView protein in Pfam
PF13181. TPR_8. 1 hit.
SMARTiView protein in SMART
SM00028. TPR. 7 hits.
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiView protein in PROSITE
PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiTTC25_HUMAN
AccessioniPrimary (citable) accession number: Q96NG3
Secondary accession number(s): Q6NX40, Q6PJ04, Q9H0K5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: February 15, 2017
This is version 125 of the entry and version 2 of the sequence. See 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 17
    Human chromosome 17: 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.