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Entry version 129 (16 Oct 2019)
Sequence version 3 (18 May 2010)
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Protein

Cilia- and flagella-associated protein 43

Gene

CFAP43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 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

Flagellar protein involved in sperm flagellum axoneme organization and function.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 43Imported
Alternative name(s):
WD repeat-containing protein 96Imported
<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:CFAP43Imported
Synonyms:C10orf79Imported, WDR96Imported
<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:26684 CFAP43

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617558 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NDM7

<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, Flagellum

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spermatogenic failure 19 (SPGF19)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility.
Related information in OMIM
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_08087885R → W in SPGF19; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376788209EnsemblClinVar.1
Natural variantiVAR_080879129S → Y in SPGF19; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692266EnsemblClinVar.1
Natural variantiVAR_080880347V → A in SPGF19; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147356105EnsemblClinVar.1
Natural variantiVAR_080881886 – 1165Missing in SPGF19. 1 PublicationAdd BLAST280
Natural variantiVAR_080882894 – 1665Missing in SPGF19. 1 PublicationAdd BLAST772
Natural variantiVAR_080883934 – 1665Missing in SPGF19. 1 PublicationAdd BLAST732
Natural variantiVAR_0808841118 – 1665Missing in SPGF19. 1 PublicationAdd BLAST548
Natural variantiVAR_0808851378 – 1665Missing in SPGF19. 1 PublicationAdd BLAST288

Organism-specific databases

DisGeNET

More...
DisGeNETi
80217

MalaCards human disease database

More...
MalaCardsi
CFAP43
MIMi617592 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197748

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
276234 Non-syndromic male infertility due to sperm motility disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134981723

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NDM7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP43

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439402

<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_00003109891 – 1665Cilia- and flagella-associated protein 43Add BLAST1665

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NDM7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NDM7

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

More...
PaxDbi
Q8NDM7

PeptideAtlas

More...
PeptideAtlasi
Q8NDM7

PRoteomics IDEntifications database

More...
PRIDEi
Q8NDM7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73039 [Q8NDM7-1]
73040 [Q8NDM7-2]
73041 [Q8NDM7-3]
73042 [Q8NDM7-4]
73043 [Q8NDM7-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NDM7

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

More...
PhosphoSitePlusi
Q8NDM7

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Testis-specific.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197748 Expressed in 123 organ(s), highest expression level in oviduct epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NDM7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NDM7 HS

<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
123184, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q8NDM7, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000349568

<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>Repeati108 – 149WD 1Sequence analysisAdd BLAST42
Repeati152 – 191WD 2Sequence analysisAdd BLAST40
Repeati250 – 290WD 3Sequence analysisAdd BLAST41
Repeati299 – 338WD 4Sequence analysisAdd BLAST40
Repeati342 – 381WD 5Sequence analysisAdd BLAST40
Repeati385 – 425WD 6Sequence analysisAdd BLAST41
Repeati427 – 469WD 7Sequence analysisAdd BLAST43
Repeati472 – 511WD 8Sequence analysisAdd BLAST40
Repeati680 – 721WD 9Sequence analysisAdd BLAST42

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 coili812 – 869Sequence analysisAdd BLAST58
Coiled coili910 – 957Sequence analysisAdd BLAST48
Coiled coili1154 – 1207Sequence analysisAdd BLAST54
Coiled coili1378 – 1429Sequence analysisAdd BLAST52

<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 CFAP43 family.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEUP Eukaryota
ENOG410XSR0 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000064714

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NDM7

Identification of Orthologs from Complete Genome Data

More...
OMAi
WNWESNV

Database of Orthologous Groups

More...
OrthoDBi
155530at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NDM7

TreeFam database of animal gene trees

More...
TreeFami
TF326434

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039692 CFAP43
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR14885:SF1 PTHR14885:SF1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 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 (5+)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 5 <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 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NDM7-1) [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
MAQGRERDEG PHSAGGASLS VRWVQGFPKQ NVHFVNDNTI CYPCGNYVIF
60 70 80 90 100
INIETKKKTV LQCSNGIVGV MATNIPCEVV AFSDRKLKPL IYVYSFPGLT
110 120 130 140 150
RRTKLKGNIL LDYTLLSFSY CGTYLASYSS LPEFELALWN WESSIILCKK
160 170 180 190 200
SQPGMDVNQM SFNPMNWRQL CLSSPSTVSV WTIERSNQEH CFRARSVKLP
210 220 230 240 250
LEDGSFFNET DVVFPQSLPK DLIYGPVLPL SAIAGLVGKE AETFRPKDDL
260 270 280 290 300
YPLLHPTMHC WTPTSDLYIG CEEGHLLMIN GDTLQVTVLN KIEEESPLDR
310 320 330 340 350
RNFISPVTLV YQKEGVLASG IDGFVYSFII KDRSYMIEDF LEIERPVEHM
360 370 380 390 400
TFSPNYTVLL IQTDKGSVYI YTFGKEPTLN KVLDACDGKF QAIDFITPGT
410 420 430 440 450
QYFMTLTYSG EICVWWLEDC ACVSKIYLNT LATVLACCPS SLSAAVGTED
460 470 480 490 500
GSVYFISVYD KESPQVVHKA FLSESSVQHV VYDQQGIFLL VGTAEGKVFI
510 520 530 540 550
INANSSSSFQ IIGFTEVAKD ILQISTVSLL ETDIVEVMVL SSLPEAGRSR
560 570 580 590 600
LEMFTLPTLL PQVSTTFADE RGRLKDEIIH KYLYELEHAL SSAVLGFQSN
610 620 630 640 650
QIYGFCSQVP YICSYLLPEE EHTGIYILKP YKKVQSRQYG PGLLYLSSHG
660 670 680 690 700
LWLITIAKCG ILCIRDVYTL ETFAWCRSHS HQGHGIQSMR ISMDGQNILV
710 720 730 740 750
NGRDDGTLVY LKWKRFGGHL ASEILDYYQK LLISLSSAMD KENHYLSTTP
760 770 780 790 800
KVSVDLGSDS EHTKQKASTD LSQDELVLTD VKKEIPWIQQ KSQEAIKKEV
810 820 830 840 850
NLFSKKRKEI KQGIKSLSKT ILNMMEENDK LENIAKLDQQ EFGLDLEELE
860 870 880 890 900
RLHDESQEEV AKMIKDVEMH NLAKSYLAEL IKEECWNSMA VKGRALKCFH
910 920 930 940 950
IPCVVENFPM KARTVEELKE LERVLQQKKI EAECLKLRKE IVEAQSGVKL
960 970 980 990 1000
IKQRHEEDDE EEEEEDKTVK YSNLPNYLLG SLSTDFGVDT SLLSSQLELH
1010 1020 1030 1040 1050
SREEKINQII LLKDIIYKVK TVFNNEFDAA YKQKEFEIAR VKERNVRIRE
1060 1070 1080 1090 1100
IILDLELEEA VWQPEFEDCE KPERTLVVQD EEITAHKHIK PWHKAKELIV
1110 1120 1130 1140 1150
NHEKEHWLLI QDASTRLRAL MDMMGGVLEV KKEDILRMVI PQPAFMAKPD
1160 1170 1180 1190 1200
AVWTEEERKQ FKDYEKKVKE LNEERDKYRK SLEAELKKLQ NSIQESTQAF
1210 1220 1230 1240 1250
DEHLKRLFER RVKAEMVTNQ EELKISNLAF SLLLDEELSS REKFLNNYLT
1260 1270 1280 1290 1300
RKQHEKSQTS EAVRKSREDL DVCKEHYDNL LAEDKVMDRS FKKEFSEIPG
1310 1320 1330 1340 1350
HQVDILYKLF KRRPRISKQK THSETTSVVP FGELPGSGKL NKDAFAQLMK
1360 1370 1380 1390 1400
AMDELDNISN MPEGLDPLVW NHFCMTRRAK VENEQKVKQK AADLLEMATF
1410 1420 1430 1440 1450
LQKRVEEEEK VQQEIERVFH ELILLQEEKV RFQLNLTIQI LLKQGQVELE
1460 1470 1480 1490 1500
NFQLVLEYSD AILINKNIIE DLNSVIRTQG QKKVASMMES KDVHKRILQI
1510 1520 1530 1540 1550
EWEHKKMEME REDLNQKAWD IQMLFFSRDR QKYLNEPNYE ALISIQIGIM
1560 1570 1580 1590 1600
EQTIAVLDKM HKKNVENCKK LLKKLGKFSN QKDIANYALS CNLREELVAV
1610 1620 1630 1640 1650
SERKDICNAM GSKLTCEKIV KERYENMMQQ QKLTNISKQQ AEQISILQTE
1660
VERLRMKTFP ALVQM
Length:1,665
Mass (Da):191,984
Last modified:May 18, 2010 - 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:i81386403AF5B07AC
GO
Isoform 2 (identifier: Q8NDM7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1256-1284: Missing.

Note: No experimental confirmation available.
Show »
Length:1,636
Mass (Da):188,622
Checksum:i31BAA60BEA3252EF
GO
Isoform 3 (identifier: Q8NDM7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     937-939: LRK → VLF
     940-1665: Missing.

Note: No experimental confirmation available.
Show »
Length:939
Mass (Da):106,233
Checksum:iB448CF2A34F397CA
GO
Isoform 4 (identifier: Q8NDM7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     482-1665: Missing.

Note: No experimental confirmation available.
Show »
Length:481
Mass (Da):54,010
Checksum:i8306394C45684E8C
GO
Isoform 5 (identifier: Q8NDM7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     366-372: GSVYIYT → VCWMVIS
     373-1665: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):42,135
Checksum:i6E1F11CFD39CFDB6
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TA04Q5TA04_HUMAN
Cilia- and flagella-associated prot...
CFAP43
870Annotation 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>
H0Y4U9H0Y4U9_HUMAN
Cilia- and flagella-associated prot...
CFAP43
514Annotation 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>
H7BZT8H7BZT8_HUMAN
Cilia- and flagella-associated prot...
CFAP43
997Annotation 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>
Q5TA05Q5TA05_HUMAN
Cilia- and flagella-associated prot...
CFAP43
303Annotation 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>
A0A0C4DFU9A0A0C4DFU9_HUMAN
Cilia- and flagella-associated prot...
CFAP43
412Annotation 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 BAC04133 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAB66835 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti159Q → E in BAB15506 (PubMed:14702039).Curated1
Sequence conflicti298L → LE in CAB66835 (PubMed:11230166).Curated1
Sequence conflicti298L → LE in BAB15506 (PubMed:14702039).Curated1
Sequence conflicti298L → LE in EAW49605 (Ref. 4) Curated1
Sequence conflicti298L → LE in AAH36647 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08087885R → W in SPGF19; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376788209EnsemblClinVar.1
Natural variantiVAR_080879129S → Y in SPGF19; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692266EnsemblClinVar.1
Natural variantiVAR_080880347V → A in SPGF19; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147356105EnsemblClinVar.1
Natural variantiVAR_037130393I → T1 PublicationCorresponds to variant dbSNP:rs10883979Ensembl.1
Natural variantiVAR_037131616L → F. Corresponds to variant dbSNP:rs35901897Ensembl.1
Natural variantiVAR_037132634V → I. Corresponds to variant dbSNP:rs17116635Ensembl.1
Natural variantiVAR_037133835A → S. Corresponds to variant dbSNP:rs12262825Ensembl.1
Natural variantiVAR_080881886 – 1165Missing in SPGF19. 1 PublicationAdd BLAST280
Natural variantiVAR_080882894 – 1665Missing in SPGF19. 1 PublicationAdd BLAST772
Natural variantiVAR_080883934 – 1665Missing in SPGF19. 1 PublicationAdd BLAST732
Natural variantiVAR_0808841118 – 1665Missing in SPGF19. 1 PublicationAdd BLAST548
Natural variantiVAR_0808851378 – 1665Missing in SPGF19. 1 PublicationAdd BLAST288

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_029369366 – 372GSVYIYT → VCWMVIS in isoform 5. 1 Publication7
Alternative sequenceiVSP_029370373 – 1665Missing in isoform 5. 1 PublicationAdd BLAST1293
Alternative sequenceiVSP_029371482 – 1665Missing in isoform 4. 1 PublicationAdd BLAST1184
Alternative sequenceiVSP_029372937 – 939LRK → VLF in isoform 3. 1 Publication3
Alternative sequenceiVSP_029373940 – 1665Missing in isoform 3. 1 PublicationAdd BLAST726
Alternative sequenceiVSP_0293741256 – 1284Missing in isoform 2. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL136901 mRNA Translation: CAB66835.1 Frameshift.
AL833836 mRNA Translation: CAD38696.1
AK026597 mRNA Translation: BAB15506.1
AK093325 mRNA Translation: BAC04133.1 Different initiation.
AL139341 Genomic DNA No translation available.
AL357336 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49605.1
BC036647 mRNA Translation: AAH36647.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31281.1 [Q8NDM7-1]

NCBI Reference Sequences

More...
RefSeqi
NP_079421.5, NM_025145.6 [Q8NDM7-1]
XP_016872173.1, XM_017016684.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357060; ENSP00000349568; ENSG00000197748 [Q8NDM7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80217

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80217

UCSC genome browser

More...
UCSCi
uc001kxw.3 human [Q8NDM7-1]

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
AL136901 mRNA Translation: CAB66835.1 Frameshift.
AL833836 mRNA Translation: CAD38696.1
AK026597 mRNA Translation: BAB15506.1
AK093325 mRNA Translation: BAC04133.1 Different initiation.
AL139341 Genomic DNA No translation available.
AL357336 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49605.1
BC036647 mRNA Translation: AAH36647.2
CCDSiCCDS31281.1 [Q8NDM7-1]
RefSeqiNP_079421.5, NM_025145.6 [Q8NDM7-1]
XP_016872173.1, XM_017016684.1

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi123184, 1 interactor
IntActiQ8NDM7, 1 interactor
STRINGi9606.ENSP00000349568

PTM databases

iPTMnetiQ8NDM7
PhosphoSitePlusiQ8NDM7

Polymorphism and mutation databases

BioMutaiCFAP43
DMDMi296439402

Proteomic databases

EPDiQ8NDM7
MassIVEiQ8NDM7
PaxDbiQ8NDM7
PeptideAtlasiQ8NDM7
PRIDEiQ8NDM7
ProteomicsDBi73039 [Q8NDM7-1]
73040 [Q8NDM7-2]
73041 [Q8NDM7-3]
73042 [Q8NDM7-4]
73043 [Q8NDM7-5]

Genome annotation databases

EnsembliENST00000357060; ENSP00000349568; ENSG00000197748 [Q8NDM7-1]
GeneIDi80217
KEGGihsa:80217
UCSCiuc001kxw.3 human [Q8NDM7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80217
DisGeNETi80217

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFAP43
HGNCiHGNC:26684 CFAP43
MalaCardsiCFAP43
MIMi617558 gene
617592 phenotype
neXtProtiNX_Q8NDM7
OpenTargetsiENSG00000197748
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA134981723

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEUP Eukaryota
ENOG410XSR0 LUCA
GeneTreeiENSGT00530000064714
InParanoidiQ8NDM7
OMAiWNWESNV
OrthoDBi155530at2759
PhylomeDBiQ8NDM7
TreeFamiTF326434

Miscellaneous databases

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

More...
ChiTaRSi
CFAP43 human

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

More...
GenomeRNAii
80217
PharosiQ8NDM7

Protein Ontology

More...
PROi
PR:Q8NDM7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197748 Expressed in 123 organ(s), highest expression level in oviduct epithelium
ExpressionAtlasiQ8NDM7 baseline and differential
GenevisibleiQ8NDM7 HS

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR039692 CFAP43
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR14885:SF1 PTHR14885:SF1, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiCFA43_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: Q8NDM7
Secondary accession number(s): Q8N9Z8
, Q8NE17, Q9H085, Q9H5W3
<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: November 13, 2007
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 129 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 chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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