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Entry version 125 (16 Oct 2019)
Sequence version 3 (22 Feb 2012)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cilia- and flagella-associated protein 46Curated
Alternative name(s):
Tetratricopeptide repeat protein 40Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CFAP46Imported
Synonyms:C10orf123Imported, C10orf124Imported, C10orf92Imported, C10orf93Imported, TTC40Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25247 CFAP46

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IYW2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000171811

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IYW2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP46

Domain mapping of disease mutations (DMDM)

More...
DMDMi
378405228

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000898121 – 2715Cilia- and flagella-associated protein 46Add BLAST2715

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IYW2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IYW2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IYW2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IYW2

PeptideAtlas

More...
PeptideAtlasi
Q8IYW2

PRoteomics IDEntifications database

More...
PRIDEi
Q8IYW2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71249 [Q8IYW2-1]
71250 [Q8IYW2-2]
71251 [Q8IYW2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IYW2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IYW2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171811 Expressed in 120 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IYW2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IYW2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA037786
HPA038034
HPA038867
HPA038868

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120145, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IYW2, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000357575

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IYW2

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1362 – 1401Sequence analysisAdd BLAST40
Coiled coili1781 – 1810Sequence analysisAdd BLAST30

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CFAP46 family.Curated

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIR7 Eukaryota
ENOG410ZIIM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00570000079216

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000202635

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IYW2

Identification of Orthologs from Complete Genome Data

More...
OMAi
EKNYGQA

Database of Orthologous Groups

More...
OrthoDBi
462717at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IYW2

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039586 CFAP46

The PANTHER Classification System

More...
PANTHERi
PTHR15977 PTHR15977, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y845H0Y845_HUMAN
Cilia- and flagella-associated prot...
CFAP46
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQB9A0A1W2PQB9_HUMAN
Cilia- and flagella-associated prot...
CFAP46
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS58101.1 [Q8IYW2-1]

Protein sequence database of the Protein Information Resource

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PIRi
T34538

NCBI Reference Sequences

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RefSeqi
NP_001186978.2, NM_001200049.2 [Q8IYW2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000368585; ENSP00000357574; ENSG00000171811 [Q8IYW2-2]
ENST00000368586; ENSP00000357575; ENSG00000171811 [Q8IYW2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54777

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54777

UCSC genome browser

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UCSCi
uc001llt.4 human [Q8IYW2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS58101.1 [Q8IYW2-1]
PIRiT34538
RefSeqiNP_001186978.2, NM_001200049.2 [Q8IYW2-1]

3D structure databases

SMRiQ8IYW2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120145, 5 interactors
IntActiQ8IYW2, 7 interactors
STRINGi9606.ENSP00000357575

PTM databases

iPTMnetiQ8IYW2
PhosphoSitePlusiQ8IYW2

Polymorphism and mutation databases

BioMutaiCFAP46
DMDMi378405228

Proteomic databases

jPOSTiQ8IYW2
MassIVEiQ8IYW2
MaxQBiQ8IYW2
PaxDbiQ8IYW2
PeptideAtlasiQ8IYW2
PRIDEiQ8IYW2
ProteomicsDBi71249 [Q8IYW2-1]
71250 [Q8IYW2-2]
71251 [Q8IYW2-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
255352

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54777

GeneCards: human genes, protein and diseases

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GeneCardsi
CFAP46
HGNCiHGNC:25247 CFAP46
HPAiHPA037786
HPA038034
HPA038867
HPA038868
neXtProtiNX_Q8IYW2
OpenTargetsiENSG00000171811

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIR7 Eukaryota
ENOG410ZIIM LUCA
GeneTreeiENSGT00570000079216
HOGENOMiHOG000202635
InParanoidiQ8IYW2
OMAiEKNYGQA
OrthoDBi462717at2759
PhylomeDBiQ8IYW2

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CFAP46 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54777
PharosiQ8IYW2

Protein Ontology

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PROi
PR:Q8IYW2

Gene expression databases

BgeeiENSG00000171811 Expressed in 120 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ8IYW2 baseline and differential
GenevisibleiQ8IYW2 HS

Family and domain databases

InterProiView protein in InterPro
IPR039586 CFAP46
PANTHERiPTHR15977 PTHR15977, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCFA46_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IYW2
Secondary accession number(s): B1AP44
, B7WPK8, Q5JSF7, Q5SR76, Q5SR77, Q86ST2, Q8N777, Q9NTQ5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: February 22, 2012
Last modified: October 16, 2019
This is version 125 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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