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Protein

Cilia- and flagella-associated protein 70

Gene

CFAP70

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

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 70Imported
Alternative name(s):
Tetratricopeptide repeat protein 18Curated
Short name:
TPR repeat protein 18Curated
Gene namesi
Name:CFAP70Imported
Synonyms:TTC18Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:30726. CFAP70.

Subcellular locationi

  • Cell projectioncilium By similarity

GO - Cellular componenti

  • cilium Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134881300.

Polymorphism and mutation databases

BioMutaiTTC18.
DMDMi294862471.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11211121Cilia- and flagella-associated protein 70PRO_0000291913Add
BLAST

Proteomic databases

EPDiQ5T0N1.
PaxDbiQ5T0N1.
PRIDEiQ5T0N1.

PTM databases

iPTMnetiQ5T0N1.
PhosphoSiteiQ5T0N1.

Expressioni

Gene expression databases

BgeeiQ5T0N1.
CleanExiHS_TTC18.
ExpressionAtlasiQ5T0N1. baseline and differential.
GenevisibleiQ5T0N1. HS.

Organism-specific databases

HPAiHPA037581.
HPA037582.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000310829.

Structurei

3D structure databases

ProteinModelPortaliQ5T0N1.
SMRiQ5T0N1. Positions 635-768, 930-1115.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati635 – 66834TPR 1Add
BLAST
Repeati669 – 70234TPR 2Add
BLAST
Repeati704 – 73633TPR 3Add
BLAST
Repeati929 – 96234TPR 4Add
BLAST
Repeati963 – 99634TPR 5Add
BLAST
Repeati1000 – 103334TPR 6Add
BLAST
Repeati1035 – 106632TPR 7Add
BLAST
Repeati1068 – 110033TPR 8Add
BLAST

Sequence similaritiesi

Belongs to the CFAP70 family.Curated
Contains 8 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IE2V. Eukaryota.
ENOG410YIJC. LUCA.
GeneTreeiENSGT00390000013319.
HOVERGENiHBG108609.
InParanoidiQ5T0N1.
OMAiDDLAHKP.
OrthoDBiEOG7M6D6P.
PhylomeDBiQ5T0N1.
TreeFamiTF324454.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 9 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 7 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T0N1-1) [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
MEQVPSAGRL VQITVTEGYD LKGFKGDTPV TFIRAEFNQV VLGDSAKITV
60 70 80 90 100
SPEGSAKYNF TSSFEFNPEG GITSDDLAHK PVFLTVTEVL PKEKKQKEEK
110 120 130 140 150
TLILGQAVVD LLPLLEGQSS FQTTVPLHPV QGSPLETPRS SAKQCSLEVK
160 170 180 190 200
VLVAEPLLTT AQISGGNLLK VTLEAAYSVP ESFIPTGPGQ NYMVGLQVPS
210 220 230 240 250
LGEKDYPILF KNGTLKLGGE REPVPRPKKW PIANILAPGA NNIPDAFIVG
260 270 280 290 300
GPYEEEEGEL NHPEDSEFRN QAECIKKRII WDLESRCYLD PSAVVSFQKR
310 320 330 340 350
IADCRLWPVE ITRVPLVTIP KGKAGKTEKT DEEAQLSFHG VAYVNMVPLL
360 370 380 390 400
YPGVKRIRGA FHVYPYLDSV VHEKTKCLLS LFRDIGHHLI HNNKIGGINS
410 420 430 440 450
LLSKQAVSKN LKEDKPVKEK DIDGRPRPGD VQAPSIKSQS SDTPLEGEPP
460 470 480 490 500
LSHNPEGQQY VEAGTYIVLE IQLDKALVPK RMPEELARRV KEMIPPRPPL
510 520 530 540 550
TRRTGGAQKA MSDYHIQIKN ISRAILDEYY RMFGKQVAKL ESDMDSETLE
560 570 580 590 600
EQKCQLSYEL NCSGKYFAFK EQLKHAVVKI VRDKYLKTTS FESQEELQTF
610 620 630 640 650
ISELYVFLVD QMHVALNQTM PDDVQGTVAT IYTSSEQLQL FAFEAEVNEN
660 670 680 690 700
FEMAAAYYKE RLVREPQNLD HWLDYGAFCL LTEDNIKAQE CFQKALSLNQ
710 720 730 740 750
SHIHSLLLCG VLAVLLENYE QAEIFFEDAT CLEPTNVVAW TLLGLYYEIQ
760 770 780 790 800
NNDIRMEMAF HEASKQLQAR MLQAQVTKQK STGVEDTEER GKRESSLGPW
810 820 830 840 850
GITNGSATAI KVEAPAGPGA ALSILDKFLE ESSKLQSDSQ EPILTTQTWD
860 870 880 890 900
PSISQKPSNT FIKEIPTKKE ASKCQDSSAL LHPGLHYGVS QTTTIFMETI
910 920 930 940 950
HFLMKVKAVQ YVHRVLAHEL LCPQGGPSCE YYLVLAQTHI LKKNFAKAEE
960 970 980 990 1000
YLQQAAQMDY LNPNVWGLKG HLYFLSGNHS EAKACYERTI SFVVDASEMH
1010 1020 1030 1040 1050
FIFLRLGLIY LEEKEYEKAK KTYMQACKRS PSCLTWLGLG IACYRLEELT
1060 1070 1080 1090 1100
EAEDALSEAN ALNNYNAEVW AYLALVCLKV GRQLEAEQAY KYMIKLKLKD
1110 1120
EALLAEIHTL QETVGFGNPS F
Length:1,121
Mass (Da):125,721
Last modified:May 14, 2014 - v3
Checksum:i480F4EAFFC149775
GO
Isoform 2 (identifier: Q5T0N1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1016-1045: Missing.

Show »
Length:1,091
Mass (Da):122,269
Checksum:i5029425912AFBCDC
GO
Isoform 3 (identifier: Q5T0N1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-119: GQS → VQS
     120-1121: Missing.

Note: No experimental confirmation available.
Show »
Length:119
Mass (Da):12,999
Checksum:iC976105F75ACBDC1
GO
Isoform 4 (identifier: Q5T0N1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-896: Missing.
     1016-1045: Missing.

Note: No experimental confirmation available.
Show »
Length:195
Mass (Da):22,338
Checksum:i1D5B5261D4C900AE
GO
Isoform 5 (identifier: Q5T0N1-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-896: Missing.

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):25,790
Checksum:i8367171B8BACB2C5
GO

Sequence cautioni

The sequence AAM20909.1 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence AAM20910.1 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence BAC05358.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI15293.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI15294.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI15295.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI15296.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 791H → Y in CAH10391 (PubMed:17974005).Curated
Sequence conflicti511 – 5111M → V in AAH32856 (PubMed:15489334).Curated
Sequence conflicti922 – 9221C → R in AAM20909 (Ref. 5) Curated
Sequence conflicti922 – 9221C → R in AAM20910 (Ref. 5) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti849 – 8491W → L.
Corresponds to variant rs12256262 [ dbSNP | Ensembl ].
VAR_032877
Natural varianti944 – 9441N → D.
Corresponds to variant rs4294502 [ dbSNP | Ensembl ].
VAR_032878

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 896896Missing in isoform 4 and isoform 5. 1 PublicationVSP_054461Add
BLAST
Alternative sequencei117 – 1193GQS → VQS in isoform 3. 1 PublicationVSP_054462
Alternative sequencei120 – 11211002Missing in isoform 3. 1 PublicationVSP_026289Add
BLAST
Alternative sequencei1016 – 104530Missing in isoform 2 and isoform 4. 2 PublicationsVSP_026291Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833537 mRNA. Translation: CAH10391.1. Different termination.
AL512656, AC016394 Genomic DNA. Translation: CAI15293.1. Sequence problems.
AL512656, AC016394 Genomic DNA. Translation: CAI15294.1. Sequence problems.
AL512656, AC016394 Genomic DNA. Translation: CAI15295.1. Sequence problems.
AL512656, AC016394 Genomic DNA. Translation: CAI15296.1. Sequence problems.
BC032856 mRNA. Translation: AAH32856.1.
AK098631 mRNA. Translation: BAC05358.1. Different initiation.
AF435958 mRNA. Translation: AAM20909.1. Frameshift.
AF435959 mRNA. Translation: AAM20910.1. Frameshift.
CCDSiCCDS7324.3. [Q5T0N1-1]
RefSeqiNP_660153.3. NM_145170.3. [Q5T0N1-1]
XP_006717667.1. XM_006717604.2.
XP_006717668.1. XM_006717605.2.
UniGeneiHs.591367.
Hs.720588.

Genome annotation databases

EnsembliENST00000310715; ENSP00000310829; ENSG00000156042. [Q5T0N1-1]
GeneIDi118491.
KEGGihsa:118491.
UCSCiuc009xrc.4. human. [Q5T0N1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833537 mRNA. Translation: CAH10391.1. Different termination.
AL512656, AC016394 Genomic DNA. Translation: CAI15293.1. Sequence problems.
AL512656, AC016394 Genomic DNA. Translation: CAI15294.1. Sequence problems.
AL512656, AC016394 Genomic DNA. Translation: CAI15295.1. Sequence problems.
AL512656, AC016394 Genomic DNA. Translation: CAI15296.1. Sequence problems.
BC032856 mRNA. Translation: AAH32856.1.
AK098631 mRNA. Translation: BAC05358.1. Different initiation.
AF435958 mRNA. Translation: AAM20909.1. Frameshift.
AF435959 mRNA. Translation: AAM20910.1. Frameshift.
CCDSiCCDS7324.3. [Q5T0N1-1]
RefSeqiNP_660153.3. NM_145170.3. [Q5T0N1-1]
XP_006717667.1. XM_006717604.2.
XP_006717668.1. XM_006717605.2.
UniGeneiHs.591367.
Hs.720588.

3D structure databases

ProteinModelPortaliQ5T0N1.
SMRiQ5T0N1. Positions 635-768, 930-1115.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000310829.

PTM databases

iPTMnetiQ5T0N1.
PhosphoSiteiQ5T0N1.

Polymorphism and mutation databases

BioMutaiTTC18.
DMDMi294862471.

Proteomic databases

EPDiQ5T0N1.
PaxDbiQ5T0N1.
PRIDEiQ5T0N1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310715; ENSP00000310829; ENSG00000156042. [Q5T0N1-1]
GeneIDi118491.
KEGGihsa:118491.
UCSCiuc009xrc.4. human. [Q5T0N1-1]

Organism-specific databases

CTDi118491.
GeneCardsiCFAP70.
H-InvDBHIX0201492.
HGNCiHGNC:30726. CFAP70.
HPAiHPA037581.
HPA037582.
neXtProtiNX_Q5T0N1.
PharmGKBiPA134881300.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE2V. Eukaryota.
ENOG410YIJC. LUCA.
GeneTreeiENSGT00390000013319.
HOVERGENiHBG108609.
InParanoidiQ5T0N1.
OMAiDDLAHKP.
OrthoDBiEOG7M6D6P.
PhylomeDBiQ5T0N1.
TreeFamiTF324454.

Miscellaneous databases

ChiTaRSiTTC18. human.
GenomeRNAii118491.
PROiQ5T0N1.

Gene expression databases

BgeeiQ5T0N1.
CleanExiHS_TTC18.
ExpressionAtlasiQ5T0N1. baseline and differential.
GenevisibleiQ5T0N1. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 9 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 7 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Cervix.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 594-1121 (ISOFORM 2).
    Tissue: Testis.
  5. Guo J.H., Yu L.
    Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5).

Entry informationi

Entry nameiCFA70_HUMAN
AccessioniPrimary (citable) accession number: Q5T0N1
Secondary accession number(s): C9JIZ9
, Q5T0M4, Q5T0M9, Q5T0N0, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: May 14, 2014
Last modified: June 8, 2016
This is version 113 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 10
    Human chromosome 10: 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.