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UniProtKB - Q8IYW2 (CFA46_HUMAN)
Protein
Cilia- and flagella-associated protein 46
Gene
CFAP46
Organism
Homo sapiens (Human)
Status
Functioni
As part of the central apparatus of the cilium axoneme plays a role in cilium movement.
By similarityGO - Biological processi
- axoneme assembly Source: UniProtKB
- cilium movement involved in cell motility Source: InterPro
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q8IYW2 |
SignaLinki | Q8IYW2 |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 46CuratedAlternative name(s): Tetratricopeptide repeat protein 40Imported |
Gene namesi | Name:CFAP46Imported Synonyms:C10orf123Imported, C10orf124Imported, C10orf92Imported, C10orf93Imported, TTC40Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25247, CFAP46 |
MIMi | 618543, gene |
neXtProti | NX_Q8IYW2 |
VEuPathDBi | HostDB:ENSG00000171811 |
Subcellular locationi
Cytoskeleton
- cilium axoneme By similarity
Cytoskeleton
- axoneme Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Organism-specific databases
DisGeNETi | 54777 |
OpenTargetsi | ENSG00000171811 |
Miscellaneous databases
Pharosi | Q8IYW2, Tdark |
Genetic variation databases
BioMutai | CFAP46 |
DMDMi | 378405228 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089812 | 1 – 2715 | Cilia- and flagella-associated protein 46Add BLAST | 2715 |
Proteomic databases
MassIVEi | Q8IYW2 |
MaxQBi | Q8IYW2 |
PaxDbi | Q8IYW2 |
PeptideAtlasi | Q8IYW2 |
PRIDEi | Q8IYW2 |
PTM databases
iPTMneti | Q8IYW2 |
PhosphoSitePlusi | Q8IYW2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000171811, Expressed in right uterine tube and 139 other tissues |
ExpressionAtlasi | Q8IYW2, baseline and differential |
Genevisiblei | Q8IYW2, HS |
Organism-specific databases
HPAi | ENSG00000171811, Tissue enhanced (choroid plexus, skeletal muscle, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 120145, 9 interactors |
IntActi | Q8IYW2, 7 interactors |
STRINGi | 9606.ENSP00000357575 |
Miscellaneous databases
RNActi | Q8IYW2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 89 – 122 | TPR 1Add BLAST | 34 | |
Repeati | 175 – 208 | TPR 2Add BLAST | 34 | |
Repeati | 261 – 295 | TPR 3Add BLAST | 35 | |
Repeati | 324 – 359 | TPR 4Add BLAST | 36 | |
Repeati | 426 – 459 | TPR 5Add BLAST | 34 | |
Repeati | 469 – 503 | TPR 6Add BLAST | 35 | |
Repeati | 807 – 845 | TPR 7Add BLAST | 39 | |
Repeati | 936 – 969 | TPR 8Add BLAST | 34 | |
Repeati | 1111 – 1144 | TPR 9Add BLAST | 34 | |
Repeati | 1174 – 1211 | TPR 10Add BLAST | 38 | |
Repeati | 1639 – 1672 | TPR 11Add BLAST | 34 | |
Repeati | 2399 – 2432 | TPR 12Add BLAST | 34 | |
Repeati | 2504 – 2537 | TPR 13Add BLAST | 34 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1356 – 1412 | DisorderedSequence analysisAdd BLAST | 57 | |
Regioni | 2000 – 2023 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 2294 – 2319 | DisorderedSequence analysisAdd BLAST | 26 | |
Regioni | 2371 – 2399 | DisorderedSequence analysisAdd BLAST | 29 | |
Regioni | 2541 – 2567 | DisorderedSequence analysisAdd BLAST | 27 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1362 – 1401 | Sequence analysisAdd BLAST | 40 | |
Coiled coili | 1781 – 1810 | Sequence analysisAdd BLAST | 30 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1359 – 1403 | Basic and acidic residuesSequence analysisAdd BLAST | 45 | |
Compositional biasi | 2371 – 2386 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 2543 – 2557 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Belongs to the CFAP46 family.Curated
Keywords - Domaini
Coiled coil, Repeat, TPR repeatPhylogenomic databases
eggNOGi | ENOG502QS2Z, Eukaryota |
GeneTreei | ENSGT00570000079216 |
HOGENOMi | CLU_000530_1_0_1 |
InParanoidi | Q8IYW2 |
OMAi | EKNYGQA |
OrthoDBi | 462717at2759 |
PhylomeDBi | Q8IYW2 |
Family and domain databases
InterProi | View protein in InterPro IPR039586, CFAP46 |
PANTHERi | PTHR15977, PTHR15977, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8IYW2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDLVITQELA RAESQQDAAS LKKAYELIKS ANLGKSEFDP SESFSPDLFV
60 70 80 90 100
LCAEQALKMR QPEVSEDCIQ MYFKVKAPIT QFLGRAHLCR AQMCAPKSAE
110 120 130 140 150
NLEEFENCVT EYMKAINFAK GEPRYYFLVY NASVLYWQMV RPFLKPGYRH
160 170 180 190 200
HLIPSLSQII NVLSQTEEED KEWRAELMLE LLECYLQAGR KEEAARFCST
210 220 230 240 250
AAPFIKSHVP QKYRQIFSVM VRHELMDELQ LKEEKKNSIS LSVTFYINML
260 270 280 290 300
KAKAEQNDLP GDISVILRKA YRHLGHYNHQ RFPSISEEKM LLLFELARFS
310 320 330 340 350
LTLKCMEISS ACLSDLKKME SKDPGKLIEM ECLECESEAL RLESKMKVYN
360 370 380 390 400
RAAVEAQLDI IQRLDVALQR AVRLGDPRVI HVVCATQWNT CLPLLQHNLR
410 420 430 440 450
HHLRKPLAGV ADVLEKLDSL MTLLRCQVHM EMAQIEEDED RLEPATEHLR
460 470 480 490 500
KAARLDSLGL YRDRIQMAST RLRLCTTLYQ APERAEDKAI MAVEQAKKAT
510 520 530 540 550
PKDSVRKKRA LLVNAGLALA PDAFQIVLDS ENEAKVSTGK NRGRFTYLCA
560 570 580 590 600
KAWHHTVSVD KAAGHLRRLG NENDKERIQI WAELAKVARK QGVWDVCRTA
610 620 630 640 650
SRFCLLYDNV KVKKLRLRRG KKKRGRDGSV QDTWSQPEVV LQRQVCPDLL
660 670 680 690 700
RKFAEVGFIH AEATVHLLRS EGVELNDRAI PPEDLSQHPA GYVPEPPEVN
710 720 730 740 750
AEWITYRTWI ESLSRCAMNN WLRSAEIGQE IQEAWIVQNA VVYVLNHNHH
760 770 780 790 800
LILAGRQKEL VDALYHLLSI VKATGHSGDP VMLVTLCNTL ARGLIISWIP
810 820 830 840 850
VQAAEKSRKF MRPNAFHSPL DAGATSEIKT AVEVCEFALN LTNGSAPEET
860 870 880 890 900
VPTGTRQQLI ATWVKAKQLL QQQIGPRLGT EEQGTNEDVS SVTRVLVALE
910 920 930 940 950
MYSCNGLGLM DFTVPSLAQL VKMASECNWS DPLVELQTLT RLTHFAHAAR
960 970 980 990 1000
DHETTMACAH RALEMGIKYL KKFGPEESRL VAEMLCTATA IQGRSIMENL
1010 1020 1030 1040 1050
KGRKQLRLVA AKAFTESARF GGIAGSSALV MLAARHYWNA WLPLLSSAVY
1060 1070 1080 1090 1100
RKKAKGALKR LIGIINKTEA RKQEKGKTLL LHQWPTADFQ GGGTTEGYFL
1110 1120 1130 1140 1150
PGAEDDLALR AALYGLLFHS HADQDDWEGG LKVLDEAVQV LPRTAHRLLI
1160 1170 1180 1190 1200
FKHMVIVKAK LGQNFSMEIQ KFKAESEDYL ARMWHRLALN SPSVSGELAC
1210 1220 1230 1240 1250
YNNAIQALQK PEMEWQKVEY LMEFGQWLHH RHFPLEDVVF HLRWAVEILL
1260 1270 1280 1290 1300
AMKPPGDVPE PQPTPDGEYV AVEMPPRSPV SEAEEAVSLE QLRSVRQLEA
1310 1320 1330 1340 1350
LARVHILLAL VLSPGAEGYE DCCLAAYAFF RHIWQVSLMT AGKSVLENRP
1360 1370 1380 1390 1400
LAATSSHLLL PKKEKENERS KEKEKERSKE KENERSKEKD KEKGKEEKVK
1410 1420 1430 1440 1450
EPKQSQSPAP IKQLEDLPMS IEEWASYSCP EEVLSVLKQD RSDSTVNPSS
1460 1470 1480 1490 1500
IQKPTYSLYF LDHLVKALQK MCLHELTVPV LQLGVLISDS VVGSKGLSDL
1510 1520 1530 1540 1550
YHLRLAHACS ELKLREAAAR HEEAVGQVCV SELEQASCRK EIALKKEKNK
1560 1570 1580 1590 1600
EPLLEESLPA LNEQTLPVQP GEIKPLDAKD KILKMNGETG RDLDGTSFPH
1610 1620 1630 1640 1650
LWMLKAEVLL EMNLYQPARL LLSEAYLAFQ ELDEPCAEAQ CLLLLAQLAN
1660 1670 1680 1690 1700
KEKNYGQAKK MIAQAQHLGG SEEFWYNSTL TLAEALLSME HSGREATVCH
1710 1720 1730 1740 1750
IFQKLINAFK ILKKERPNRL PLLEFMITDL EARCLSLRVR VAQHSAVTEP
1760 1770 1780 1790 1800
TECSLLLKEM DDGLLEIERK FIDCGCKENC VDVKLERAKI KRLRAQNEKD
1810 1820 1830 1840 1850
EEQKTAYYLE AYGLAQGAVA EEEGRLHSIQ GLYGLAQGAM AEEEGRLHSV
1860 1870 1880 1890 1900
QGLLSLQDLQ NVNTPLMRKL ARLKLGLVEM ALDMLQFIWE EAHGQQSEQG
1910 1920 1930 1940 1950
SLEKLLADYL QNTSDYTSVG LQWFTLKRTL AHGALAQLGS LQPLSVGCVE
1960 1970 1980 1990 2000
IRARLLGLAG RALHLLAMQA DPVHPTCYWE AGPSVGAKLS GLKSLELEVE
2010 2020 2030 2040 2050
EEGATKSSRD PPASRAAPEE HCRRGEDLKR RMVLAQQYLA QASEVLLQCL
2060 2070 2080 2090 2100
QVALGSGLLD VAAAASLEMV ECVGTLDPAT TCQFLALSQS CSASETMRDV
2110 2120 2130 2140 2150
LLAATANTSS SQLAALLQLQ HQLRCQDRTT TSLGARVEQR LAAVSKAWQN
2160 2170 2180 2190 2200
LCVTEQHFNL LNEMPPTFWI LFLHLSGDRS RLYGAAYEKP KFITAAKGKV
2210 2220 2230 2240 2250
QAVGGSCKVM RLAISPTAFS HLLACAQQFR KQTQAQVYSE DMALNIGSEP
2260 2270 2280 2290 2300
EGLQVEEKER PVQRLSSVLG PLEELLQPLF PLLSLSKARV QTPAVVADSG
2310 2320 2330 2340 2350
KSKGKDKERK TSTGQHSTVQ PEVADKIVLV ADRHLLELPL EGLSVFDEGT
2360 2370 2380 2390 2400
ISSVSREFSL QMLWNRLHKE ETEGGVKKEG RSRDPKKRSL AKKGRKGSIP
2410 2420 2430 2440 2450
RTIPPDCIIV DSDNFKFVVD PYEEAQGPEM LTPVSITQDI LERFQDTFTS
2460 2470 2480 2490 2500
RWAGHLGSKH FPSQAQWEQA LGSCSGFFFY GMESFLSHIL VERLVAMNLQ
2510 2520 2530 2540 2550
ECQVAVLLDL ARSYQSLKRH MESVEHRRSV GRWEANWRNS ASPSEDEWRR
2560 2570 2580 2590 2600
GGEPRRGFSD LEGQAAAAPK LRAPSHHAQL GPVWAAAPSH RVVQAWTCLP
2610 2620 2630 2640 2650
SAAGAPALAS ALGSAPLPTH PHLPAPIPSS QLALPFLGLS PALGAASARD
2660 2670 2680 2690 2700
PPPATSRKAA AWTSSSACLC APWGLRRGWS CVSSRGQDKG GLPLAALVLS
2710
CLDQKTIQTV SLFLI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y845 | H0Y845_HUMAN | Cilia- and flagella-associated prot... | CFAP46 | 153 | Annotation score: | ||
A0A1W2PQB9 | A0A1W2PQB9_HUMAN | Cilia- and flagella-associated prot... | CFAP46 | 144 | Annotation score: |
Sequence cautioni
The sequence AAH34223 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC05424 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046201 | 264 | S → N1 PublicationCorresponds to variant dbSNP:rs12781609Ensembl. | 1 | |
Natural variantiVAR_056823 | 2125 | C → R. Corresponds to variant dbSNP:rs10870341Ensembl. | 1 | |
Natural variantiVAR_056824 | 2249 | E → K. Corresponds to variant dbSNP:rs12356978Ensembl. | 1 | |
Natural variantiVAR_023208 | 2331 | A → T2 PublicationsCorresponds to variant dbSNP:rs4880433Ensembl. | 1 | |
Natural variantiVAR_056825 | 2499 | L → F. Corresponds to variant dbSNP:rs3750587Ensembl. | 1 | |
Natural variantiVAR_023209 | 2540 | S → G2 PublicationsCorresponds to variant dbSNP:rs2254419Ensembl. | 1 | |
Natural variantiVAR_056826 | 2658 | K → Q. Corresponds to variant dbSNP:rs35981039Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042255 | 222 – 247 | RHELM…VTFYI → NQRIRNRDVRSNFLKSHCSE NCVEIT in isoform 3. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_042256 | 248 – 2715 | Missing in isoform 3. 1 PublicationAdd BLAST | 2468 | |
Alternative sequenceiVSP_042257 | 323 – 405 | DPGKL…HHLRK → VSGFMTLLPGDEALLTVQLD KRQRKEEQFTRPRPPGLRSV VGTLPSFLPVFCTVAVRWCL QFYTCPFLFTFLVATGPQHH SCF in isoform 2. 1 PublicationAdd BLAST | 83 | |
Alternative sequenceiVSP_042258 | 406 – 2715 | Missing in isoform 2. 1 PublicationAdd BLAST | 2310 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK098820 mRNA Translation: BAC05424.1 Sequence problems. AL392043 Genomic DNA No translation available. AL691429 Genomic DNA No translation available. BC034223 mRNA Translation: AAH34223.1 Different initiation. BC044661 mRNA Translation: AAH44661.1 AL122111 mRNA Translation: CAB59272.3 |
CCDSi | CCDS58101.1 [Q8IYW2-1] |
PIRi | T34538 |
RefSeqi | NP_001186978.2, NM_001200049.2 [Q8IYW2-1] |
Genome annotation databases
Ensembli | ENST00000368585; ENSP00000357574; ENSG00000171811 [Q8IYW2-2] ENST00000368586; ENSP00000357575; ENSG00000171811 |
GeneIDi | 54777 |
KEGGi | hsa:54777 |
MANE-Selecti | ENST00000368586.10; ENSP00000357575.4; NM_001200049.3; NP_001186978.2 |
UCSCi | uc001llt.4, human [Q8IYW2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK098820 mRNA Translation: BAC05424.1 Sequence problems. AL392043 Genomic DNA No translation available. AL691429 Genomic DNA No translation available. BC034223 mRNA Translation: AAH34223.1 Different initiation. BC044661 mRNA Translation: AAH44661.1 AL122111 mRNA Translation: CAB59272.3 |
CCDSi | CCDS58101.1 [Q8IYW2-1] |
PIRi | T34538 |
RefSeqi | NP_001186978.2, NM_001200049.2 [Q8IYW2-1] |
3D structure databases
SMRi | Q8IYW2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120145, 9 interactors |
IntActi | Q8IYW2, 7 interactors |
STRINGi | 9606.ENSP00000357575 |
PTM databases
iPTMneti | Q8IYW2 |
PhosphoSitePlusi | Q8IYW2 |
Genetic variation databases
BioMutai | CFAP46 |
DMDMi | 378405228 |
Proteomic databases
MassIVEi | Q8IYW2 |
MaxQBi | Q8IYW2 |
PaxDbi | Q8IYW2 |
PeptideAtlasi | Q8IYW2 |
PRIDEi | Q8IYW2 |
Protocols and materials databases
Antibodypediai | 48598, 54 antibodies from 8 providers |
DNASUi | 255352 54777 |
Genome annotation databases
Ensembli | ENST00000368585; ENSP00000357574; ENSG00000171811 [Q8IYW2-2] ENST00000368586; ENSP00000357575; ENSG00000171811 |
GeneIDi | 54777 |
KEGGi | hsa:54777 |
MANE-Selecti | ENST00000368586.10; ENSP00000357575.4; NM_001200049.3; NP_001186978.2 |
UCSCi | uc001llt.4, human [Q8IYW2-1] |
Organism-specific databases
CTDi | 54777 |
DisGeNETi | 54777 |
GeneCardsi | CFAP46 |
HGNCi | HGNC:25247, CFAP46 |
HPAi | ENSG00000171811, Tissue enhanced (choroid plexus, skeletal muscle, testis) |
MIMi | 618543, gene |
neXtProti | NX_Q8IYW2 |
OpenTargetsi | ENSG00000171811 |
VEuPathDBi | HostDB:ENSG00000171811 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QS2Z, Eukaryota |
GeneTreei | ENSGT00570000079216 |
HOGENOMi | CLU_000530_1_0_1 |
InParanoidi | Q8IYW2 |
OMAi | EKNYGQA |
OrthoDBi | 462717at2759 |
PhylomeDBi | Q8IYW2 |
Enzyme and pathway databases
PathwayCommonsi | Q8IYW2 |
SignaLinki | Q8IYW2 |
Miscellaneous databases
BioGRID-ORCSi | 54777, 6 hits in 1031 CRISPR screens |
ChiTaRSi | CFAP46, human |
GenomeRNAii | 54777 |
Pharosi | Q8IYW2, Tdark |
PROi | PR:Q8IYW2 |
RNActi | Q8IYW2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000171811, Expressed in right uterine tube and 139 other tissues |
ExpressionAtlasi | Q8IYW2, baseline and differential |
Genevisiblei | Q8IYW2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039586, CFAP46 |
PANTHERi | PTHR15977, PTHR15977, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CFA46_HUMAN | |
Accessioni | Q8IYW2Primary (citable) accession number: Q8IYW2 Secondary accession number(s): B1AP44 Q9NTQ5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2005 |
Last sequence update: | February 22, 2012 | |
Last modified: | February 23, 2022 | |
This is version 138 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families