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Protein

Cilia- and flagella-associated protein 46

Gene

CFAP46

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

As part of the central apparatus of the cilium axoneme plays a role in cilium movement.By similarity

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 46Curated
Alternative name(s):
Tetratricopeptide repeat protein 40Imported
Gene namesi
Name:CFAP46Imported
Synonyms:C10orf123Imported, C10orf124Imported, C10orf92Imported, C10orf93Imported, TTC40Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:25247. CFAP46.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000171811.
PharmGKBiPA134917788.

Polymorphism and mutation databases

BioMutaiTTC40.
DMDMi378405228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000898121 – 2715Cilia- and flagella-associated protein 46Add BLAST2715

Proteomic databases

MaxQBiQ8IYW2.
PaxDbiQ8IYW2.
PeptideAtlasiQ8IYW2.
PRIDEiQ8IYW2.

PTM databases

iPTMnetiQ8IYW2.
PhosphoSitePlusiQ8IYW2.

Expressioni

Gene expression databases

BgeeiENSG00000171811.
CleanExiHS_C10orf92.
HS_C10orf93.
ExpressionAtlasiQ8IYW2. baseline and differential.
GenevisibleiQ8IYW2. HS.

Organism-specific databases

HPAiHPA037786.
HPA038034.
HPA038867.
HPA038868.

Interactioni

Protein-protein interaction databases

BioGridi120145. 5 interactors.
MINTiMINT-4721579.

Structurei

3D structure databases

ProteinModelPortaliQ8IYW2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati89 – 122TPR 1Add BLAST34
Repeati175 – 208TPR 2Add BLAST34
Repeati261 – 295TPR 3Add BLAST35
Repeati324 – 359TPR 4Add BLAST36
Repeati426 – 459TPR 5Add BLAST34
Repeati469 – 503TPR 6Add BLAST35
Repeati807 – 845TPR 7Add BLAST39
Repeati936 – 969TPR 8Add BLAST34
Repeati1111 – 1144TPR 9Add BLAST34
Repeati1174 – 1211TPR 10Add BLAST38
Repeati1639 – 1672TPR 11Add BLAST34
Repeati2399 – 2432TPR 12Add BLAST34
Repeati2504 – 2537TPR 13Add BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1362 – 1401Sequence analysisAdd BLAST40
Coiled coili1781 – 1810Sequence analysisAdd BLAST30

Sequence similaritiesi

Belongs to the CFAP46 family.Curated

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IIR7. Eukaryota.
ENOG410ZIIM. LUCA.
GeneTreeiENSGT00570000079216.
HOGENOMiHOG000202635.
HOVERGENiHBG085225.
InParanoidiQ8IYW2.
OMAiEKNYGQA.
OrthoDBiEOG091G00QG.
PhylomeDBiQ8IYW2.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiView protein in InterPro
IPR011990. TPR-like_helical_dom.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8IYW2-1) [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
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
Note: No experimental confirmation available.
Length:2,715
Mass (Da):303,500
Last modified:February 22, 2012 - v3
Checksum:i693A814CD7068AEC
GO
Isoform 2 (identifier: Q8IYW2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     323-405: DPGKLIEMEC...QHNLRHHLRK → VSGFMTLLPG...ATGPQHHSCF
     406-2715: Missing.

Note: No experimental confirmation available.
Show »
Length:405
Mass (Da):46,712
Checksum:i5EEBD4BBEC385D46
GO
Isoform 3 (identifier: Q8IYW2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     222-247: RHELMDELQLKEEKKNSISLSVTFYI → NQRIRNRDVRSNFLKSHCSENCVEIT
     248-2715: Missing.

Note: No experimental confirmation available.
Show »
Length:247
Mass (Da):28,616
Checksum:i1E44E8CF58EA640A
GO

Sequence cautioni

The sequence AAH34223 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC05424 differs from that shown. Reason: Erroneous termination at position 7. Translated as Gln.Curated
The sequence CAI17262 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI39950 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI39951 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046201264S → N1 PublicationCorresponds to variant dbSNP:rs12781609Ensembl.1
Natural variantiVAR_0568232125C → R. Corresponds to variant dbSNP:rs10870341Ensembl.1
Natural variantiVAR_0568242249E → K. Corresponds to variant dbSNP:rs12356978Ensembl.1
Natural variantiVAR_0232082331A → T2 PublicationsCorresponds to variant dbSNP:rs4880433Ensembl.1
Natural variantiVAR_0568252499L → F. Corresponds to variant dbSNP:rs3750587Ensembl.1
Natural variantiVAR_0232092540S → G2 PublicationsCorresponds to variant dbSNP:rs2254419Ensembl.1
Natural variantiVAR_0568262658K → Q. Corresponds to variant dbSNP:rs35981039Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042255222 – 247RHELM…VTFYI → NQRIRNRDVRSNFLKSHCSE NCVEIT in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_042256248 – 2715Missing in isoform 3. 1 PublicationAdd BLAST2468
Alternative sequenceiVSP_042257323 – 405DPGKL…HHLRK → VSGFMTLLPGDEALLTVQLD KRQRKEEQFTRPRPPGLRSV VGTLPSFLPVFCTVAVRWCL QFYTCPFLFTFLVATGPQHH SCF in isoform 2. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_042258406 – 2715Missing in isoform 2. 1 PublicationAdd BLAST2310

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK098820 mRNA. Translation: BAC05424.1. Sequence problems.
AL392043 Genomic DNA. Translation: CAI39950.2. Sequence problems.
AL392043 Genomic DNA. Translation: CAI39951.1. Sequence problems.
AL691429 Genomic DNA. Translation: CAI17262.1. Sequence problems.
AL691429 Genomic DNA. Translation: CAI17263.1.
AL691429 Genomic DNA. Translation: CAI17264.1.
BC034223 mRNA. Translation: AAH34223.1. Different initiation.
BC044661 mRNA. Translation: AAH44661.1.
AL122111 mRNA. Translation: CAB59272.3.
CCDSiCCDS58101.1. [Q8IYW2-1]
PIRiT34538.
RefSeqiNP_001186978.2. NM_001200049.2. [Q8IYW2-1]
UniGeneiHs.298038.
Hs.719815.

Genome annotation databases

EnsembliENST00000368585; ENSP00000357574; ENSG00000171811. [Q8IYW2-2]
ENST00000368586; ENSP00000357575; ENSG00000171811. [Q8IYW2-1]
GeneIDi54777.
KEGGihsa:54777.
UCSCiuc001llt.4. human. [Q8IYW2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCFA46_HUMAN
AccessioniPrimary (citable) accession number: Q8IYW2
Secondary accession number(s): B1AP44
, B7WPK8, Q5JSF7, Q5SR76, Q5SR77, Q86ST2, Q8N777, Q9NTQ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: February 22, 2012
Last modified: August 30, 2017
This is version 111 of the entry and version 3 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 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