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Protein

Cilia- and flagella-associated protein 43

Gene

CFAP43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:G66-32763-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 43Imported
Alternative name(s):
WD repeat-containing protein 96Imported
Gene namesi
Name:CFAP43Imported
Synonyms:C10orf79Imported, WDR96Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:26684. CFAP43.

Subcellular locationi

  • Cell projectionciliumflagellum By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Organism-specific databases

DisGeNETi80217.
OpenTargetsiENSG00000197748.
PharmGKBiPA134981723.

Polymorphism and mutation databases

BioMutaiWDR96.
DMDMi296439402.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003109891 – 1665Cilia- and flagella-associated protein 43Add BLAST1665

Proteomic databases

EPDiQ8NDM7.
PaxDbiQ8NDM7.
PeptideAtlasiQ8NDM7.
PRIDEiQ8NDM7.

PTM databases

iPTMnetiQ8NDM7.
PhosphoSitePlusiQ8NDM7.

Expressioni

Gene expression databases

BgeeiENSG00000197748.
CleanExiHS_C10orf79.
ExpressionAtlasiQ8NDM7. baseline and differential.
GenevisibleiQ8NDM7. HS.

Organism-specific databases

HPAiHPA038128.

Interactioni

Protein-protein interaction databases

BioGridi123184. 1 interactor.
MINTiMINT-4716092.
STRINGi9606.ENSP00000349568.

Structurei

3D structure databases

ProteinModelPortaliQ8NDM7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Coiled coili812 – 869Sequence analysisAdd BLAST58
Coiled coili910 – 957Sequence analysisAdd BLAST48
Coiled coili1154 – 1207Sequence analysisAdd BLAST54
Coiled coili1378 – 1429Sequence analysisAdd BLAST52

Sequence similaritiesi

Belongs to the CFAP43 family.Curated
Contains 9 WD repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IEUP. Eukaryota.
ENOG410XSR0. LUCA.
GeneTreeiENSGT00530000064714.
HOVERGENiHBG095360.
InParanoidiQ8NDM7.
OMAiVWQPEFE.
OrthoDBiEOG091G00PH.
PhylomeDBiQ8NDM7.
TreeFamiTF326434.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NDM7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
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
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

Sequence cautioni

The sequence BAC04133 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB66835 differs from that shown. Reason: Frameshift at positions 34, 625, 849, 1232, 1348, 1351, 1460, 1473, 1524 and 1577.Curated
The sequence CAI17220 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI17221 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI40457 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_037130393I → T.1 PublicationCorresponds to variant rs10883979dbSNPEnsembl.1
Natural variantiVAR_037131616L → F.Corresponds to variant rs35901897dbSNPEnsembl.1
Natural variantiVAR_037132634V → I.Corresponds to variant rs17116635dbSNPEnsembl.1
Natural variantiVAR_037133835A → S.Corresponds to variant rs12262825dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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, AL357336 Genomic DNA. Translation: CAI17220.1. Sequence problems.
AL139341 Genomic DNA. Translation: CAI17221.1. Sequence problems.
AL357336, AL139341 Genomic DNA. Translation: CAI40457.1. Sequence problems.
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.
UniGeneiHs.288927.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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, AL357336 Genomic DNA. Translation: CAI17220.1. Sequence problems.
AL139341 Genomic DNA. Translation: CAI17221.1. Sequence problems.
AL357336, AL139341 Genomic DNA. Translation: CAI40457.1. Sequence problems.
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.
UniGeneiHs.288927.

3D structure databases

ProteinModelPortaliQ8NDM7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123184. 1 interactor.
MINTiMINT-4716092.
STRINGi9606.ENSP00000349568.

PTM databases

iPTMnetiQ8NDM7.
PhosphoSitePlusiQ8NDM7.

Polymorphism and mutation databases

BioMutaiWDR96.
DMDMi296439402.

Proteomic databases

EPDiQ8NDM7.
PaxDbiQ8NDM7.
PeptideAtlasiQ8NDM7.
PRIDEiQ8NDM7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80217.
DisGeNETi80217.
GeneCardsiCFAP43.
HGNCiHGNC:26684. CFAP43.
HPAiHPA038128.
neXtProtiNX_Q8NDM7.
OpenTargetsiENSG00000197748.
PharmGKBiPA134981723.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEUP. Eukaryota.
ENOG410XSR0. LUCA.
GeneTreeiENSGT00530000064714.
HOVERGENiHBG095360.
InParanoidiQ8NDM7.
OMAiVWQPEFE.
OrthoDBiEOG091G00PH.
PhylomeDBiQ8NDM7.
TreeFamiTF326434.

Enzyme and pathway databases

BioCyciZFISH:G66-32763-MONOMER.

Miscellaneous databases

GenomeRNAii80217.
PROiQ8NDM7.

Gene expression databases

BgeeiENSG00000197748.
CleanExiHS_C10orf79.
ExpressionAtlasiQ8NDM7. baseline and differential.
GenevisibleiQ8NDM7. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiCFA43_HUMAN
AccessioniPrimary (citable) accession number: Q8NDM7
Secondary accession number(s): Q8N9Z8
, Q8NE17, Q9H085, Q9H5W3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.