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UniProtKB - Q8IYW2 (CFA46_HUMAN)

Entry version 138 (23 Feb 2022)
Sequence version 3 (22 Feb 2012)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IYW2

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8IYW2

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		618543, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IYW2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000171811

<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

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

DisGeNET

More...DisGeNETi		54777

Open Targets

More...OpenTargetsi		ENSG00000171811

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IYW2, Tdark

Genetic variation 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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000898121 – 2715Cilia- and flagella-associated protein 46Add BLAST2715

Proteomic databases

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

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 right uterine tube and 139 other tissues

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		ENSG00000171811, Tissue enhanced (choroid plexus, skeletal muscle, testis)

<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)

More...BioGRIDi		120145, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q8IYW2, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357575

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IYW2, protein

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1356 – 1412DisorderedSequence analysisAdd BLAST57
Regioni2000 – 2023DisorderedSequence analysisAdd BLAST24
Regioni2294 – 2319DisorderedSequence analysisAdd BLAST26
Regioni2371 – 2399DisorderedSequence analysisAdd BLAST29
Regioni2541 – 2567DisorderedSequence analysisAdd BLAST27

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1359 – 1403Basic and acidic residuesSequence analysisAdd BLAST45
Compositional biasi2371 – 2386Basic and acidic residuesSequence analysisAdd BLAST16
Compositional biasi2543 – 2557Basic and acidic residuesSequence analysisAdd BLAST15

<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		ENOG502QS2Z, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00570000079216

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000530_1_0_1

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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <p><strong>What is the canonical sequence?</strong><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
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.

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.

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

More...CCDSi		CCDS58101.1 [Q8IYW2-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T34538

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54777

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54777

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000368586.10; ENSP00000357575.4; NM_001200049.3; NP_001186978.2

UCSC genome browser

More...UCSCi		uc001llt.4, human [Q8IYW2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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, 9 interactors
IntActiQ8IYW2, 7 interactors
STRINGi9606.ENSP00000357575

PTM databases

iPTMnetiQ8IYW2
PhosphoSitePlusiQ8IYW2

Genetic variation databases

BioMutaiCFAP46
DMDMi378405228

Proteomic databases

MassIVEiQ8IYW2
MaxQBiQ8IYW2
PaxDbiQ8IYW2
PeptideAtlasiQ8IYW2
PRIDEiQ8IYW2

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		48598, 54 antibodies from 8 providers

The DNASU plasmid repository

More...DNASUi		255352
54777

Genome annotation databases

EnsembliENST00000368585; ENSP00000357574; ENSG00000171811 [Q8IYW2-2]
ENST00000368586; ENSP00000357575; ENSG00000171811
GeneIDi54777
KEGGihsa:54777
MANE-SelectiENST00000368586.10; ENSP00000357575.4; NM_001200049.3; NP_001186978.2
UCSCiuc001llt.4, human [Q8IYW2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54777
DisGeNETi54777

GeneCards: human genes, protein and diseases

More...GeneCardsi		CFAP46
HGNCiHGNC:25247, CFAP46
HPAiENSG00000171811, Tissue enhanced (choroid plexus, skeletal muscle, testis)
MIMi618543, gene
neXtProtiNX_Q8IYW2
OpenTargetsiENSG00000171811
VEuPathDBiHostDB:ENSG00000171811

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QS2Z, Eukaryota
GeneTreeiENSGT00570000079216
HOGENOMiCLU_000530_1_0_1
InParanoidiQ8IYW2
OMAiEKNYGQA
OrthoDBi462717at2759
PhylomeDBiQ8IYW2

Enzyme and pathway databases

PathwayCommonsiQ8IYW2
SignaLinkiQ8IYW2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54777, 6 hits in 1031 CRISPR screens

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

More...ChiTaRSi		CFAP46, human

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

More...GenomeRNAii		54777
PharosiQ8IYW2, Tdark

Protein Ontology

More...PROi		PR:Q8IYW2
RNActiQ8IYW2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171811, Expressed in right uterine tube and 139 other tissues
ExpressionAtlasiQ8IYW2, baseline and differential
GenevisibleiQ8IYW2, HS

Family and domain databases

InterProiView protein in InterPro
IPR039586, CFAP46
PANTHERiPTHR15977, PTHR15977, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...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%5Fand%5Fisoforms">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: February 23, 2022
This is version 138 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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