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Protein

Cilia- and flagella-associated protein 44

Gene

CFAP44

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32278-MONOMER.
SignaLinkiQ96MT7.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 44Imported
Alternative name(s):
WD repeat-containing protein 52Imported
Gene namesi
Name:CFAP44Imported
Synonyms:WDR52Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25631. CFAP44.

Subcellular locationi

  • Cell projectionciliumflagellum By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000206530.
ENSG00000283241.
PharmGKBiPA134928828.

Polymorphism and mutation databases

BioMutaiWDR52.
DMDMi74760982.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003051021 – 982Cilia- and flagella-associated protein 44Add BLAST982

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q96MT7-2)
Modified residuei1083PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ96MT7.
PeptideAtlasiQ96MT7.
PRIDEiQ96MT7.

PTM databases

iPTMnetiQ96MT7.
PhosphoSitePlusiQ96MT7.

Expressioni

Gene expression databases

BgeeiENSG00000206530.
CleanExiHS_WDR52.
ExpressionAtlasiQ96MT7. baseline and differential.
GenevisibleiQ96MT7. HS.

Organism-specific databases

HPAiHPA067258.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120894. 1 interactor.
IntActiQ96MT7. 1 interactor.
STRINGi9606.ENSP00000377428.

Structurei

3D structure databases

ProteinModelPortaliQ96MT7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati226 – 267WD 1Sequence analysisAdd BLAST42
Repeati270 – 309WD 2Sequence analysisAdd BLAST40
Repeati315 – 358WD 3Sequence analysisAdd BLAST44
Repeati365 – 402WD 4Sequence analysisAdd BLAST38
Repeati468 – 507WD 5Sequence analysisAdd BLAST40
Repeati513 – 553WD 6Sequence analysisAdd BLAST41
Repeati573 – 612WD 7Sequence analysisAdd BLAST40
Repeati804 – 843WD 8Sequence analysisAdd BLAST40
Repeati856 – 895WD 9Sequence analysisAdd BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili931 – 958Sequence analysisAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi688 – 741Glu-richAdd BLAST54

Sequence similaritiesi

Belongs to the CFAP44 family.Curated
Contains 9 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IS9Z. Eukaryota.
ENOG410XRYZ. LUCA.
GeneTreeiENSGT00550000074369.
HOGENOMiHOG000068177.
HOVERGENiHBG075037.
InParanoidiQ96MT7.
OMAiKGRKPCH.
OrthoDBiEOG091G01ED.
PhylomeDBiQ96MT7.
TreeFamiTF323192.

Family and domain databases

Gene3Di2.130.10.10. 4 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96MT7-1) [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
MKEPDDQDTD GEKSVTSKSD GKKSLRSSKS ESRSPVQEDN TFLEDDTDET
60 70 80 90 100
FTKGEGSYLE EDSDEERLEG SLSSFQYGDL QSTTVPQQTP APAVEEAEEE
110 120 130 140 150
VKKKISESFF YDYMELASMP FVTLDSNIPL DLLTLVHSFG YDCRKRANLQ
160 170 180 190 200
LLDDSIAIYI AGNQLIFLNL KTKEQIYLRS SSGEGIGVIG VHPHKTYFTV
210 220 230 240 250
AEKGSFPDII IYEYPSLRPY RVLRDGTEKG YAYVDFNYSG NLLASVGSNP
260 270 280 290 300
DYTLTIWNWK EEQPILRTKA FSQEVFKVTF NPDKEEQLTT SGSGHIKFWE
310 320 330 340 350
MAFTFTGLKL QGSLGRFGKT ITTDIEGYME LPDGKVLSGS EWGNMLLWEG
360 370 380 390 400
GLIKVELCRG TSKSCHNGPI NQIMLYEGEV ITVGSDGYVR IWDFETIDTA
410 420 430 440 450
DVIDETGLLE IEPINELQVD KNVNLFSMIK MNETGNNFWL AQDANGAIWK
460 470 480 490 500
LDLSFSNITQ DPECLFSFHS GAIEAVAVSP LTYLMATTAL DCSVRIYDFA
510 520 530 540 550
SKTPLAQMKF KQGGTALVWV PRMVNFTGAQ IIVGFEDGVV RILELYDPKG
560 570 580 590 600
LTIFAGRKKI LDADIQLKQV FKPHTACVTA LAYERDGEIL ATGSKDQTVF
610 620 630 640 650
FFEVERDYKP IGYINTPGPV CQLMWSPMSH PESTLLIICE NGYILEAPLP
660 670 680 690 700
TIKQEEDDHD VVSYEIKDMC IKCFHFSSVK SKILRLIEIE KRERQRELKE
710 720 730 740 750
KIREERRNKL AAEMGEDGEK EFQEEEEEKE EEEEEEEPLP EIFIPSTPSP
760 770 780 790 800
ILCGFYSEPG KFWVSLGGYD SGFLYHCEFP PCDESSDFKE QKDEPIDVRY
810 820 830 840 850
LADTEDNPIQ TITFNINKVM MFCGMKNGAI RVYVLNQNDP SLTSLVDYWH
860 870 880 890 900
FNMHDNNYGC IKSIANSFDD RFLVTAGADG NIFVFNIFSE FMLRKDMKAK
910 920 930 940 950
VPSPRFGIET EPIPEDIEDP KAYSIENARR KREHDKLMKE VGEIKARKRE
960 970 980
QIKALRSEFC NLLEMNEKLP KHMQFKRTVS LI
Length:982
Mass (Da):111,729
Last modified:December 1, 2001 - v1
Checksum:iD7B481E2EB4D30E1
GO
Isoform 2 (identifier: Q96MT7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     979-982: VSLI → DFDVDSQIRA...REKEIQPADL

Show »
Length:1,854
Mass (Da):213,865
Checksum:iB086EB5D6455C187
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06210553K → E.Corresponds to variant rs59722850dbSNPEnsembl.1
Natural variantiVAR_053435284K → N.Corresponds to variant rs16845107dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_040265979 – 982VSLI → DFDVDSQIRAEMHRKTAFKI QQVEKELAWEKEKHELGLMK LKNRFRDPLESDTIVVHAIL SDHKISSYRLVQPSKYSKFK RASQSERKPSKLDRFEKEGP GRKDSQRDAGGSVTIQEESI IEKGKKFRPKTLSEIIVENQ IEKTRKLILKAERAQLKIQQ RKKEWEELYKSKPGDDYEDP KDLQAIKEAQVYMGDFNLKT APDYKIPEHMRINAAKKEEE LGHLDSLVHGNKRHMNKCIL SLRDLKVAVVEEIQCLVQEL KNIQSTLHISKHIPIPKIPQ IHPEEVPEKRFQYDEETLLN FKQQQMKSKDEKSPGVEQTG SGGPVGGFLKLSSRKDGDLT TRDSISRSSKASTFSLDIPK CLEFEKAEPTDVELEIMKRD EIKHVYMQQYLVNRIKELVV TFDAELRLLRHQKLKLDTQM KLSDLHHVTLFQEILLLKNF EKQENILQERVNSLDKEEQY MQWKINETLKEMEEKKNEIT KLQEQEKALYAGFQAAIGEN NKFANFLMKVLKKKIKRVKK KEVEGDADEDEESEESSEEE SSLESDEDESESEDEVFDDS ICPTNCDVALFELALHLREK RLDIEEALVEEKKIVDNLKK EYDTLSKKVKIVATNLNAAE EALEAYQREKQQRLNELLVV IPLKLHQIEYVVFGEIPSDL SGTLVFSNHALRRLQERIHE LQEENSKQQKLNKEWRERRK QLIREKREMTKTIHKMEETV RQLMISKFGRVVNLEALQTL SVNTTLEELKIRKLRKELAN AKEMKMWEEKIAQMRWELMM KTKEHTRKLYQMNDLCIEKK KLDSRLNTLQNQQGNAFQGP READVVAREEVTELIQLQAE RISALKEEIALLRRKGSLIL PPIQSPREKEIQPADL in isoform 2. Curated4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056472 mRNA. Translation: BAB71193.1.
AC023894 Genomic DNA. No translation available.
AC026329 Genomic DNA. No translation available.
AC026348 Genomic DNA. No translation available.
AC112128 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79641.1.
BC101582 mRNA. Translation: AAI01583.1.
BC113553 mRNA. Translation: AAI13554.1.
CCDSiCCDS2972.1. [Q96MT7-1]
CCDS54624.1. [Q96MT7-2]
RefSeqiNP_001157968.1. NM_001164496.1. [Q96MT7-2]
NP_060808.2. NM_018338.3. [Q96MT7-1]
UniGeneiHs.584936.

Genome annotation databases

EnsembliENST00000295868; ENSP00000295868; ENSG00000206530. [Q96MT7-1]
GeneIDi55779.
KEGGihsa:55779.
UCSCiuc003ead.2. human. [Q96MT7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056472 mRNA. Translation: BAB71193.1.
AC023894 Genomic DNA. No translation available.
AC026329 Genomic DNA. No translation available.
AC026348 Genomic DNA. No translation available.
AC112128 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79641.1.
BC101582 mRNA. Translation: AAI01583.1.
BC113553 mRNA. Translation: AAI13554.1.
CCDSiCCDS2972.1. [Q96MT7-1]
CCDS54624.1. [Q96MT7-2]
RefSeqiNP_001157968.1. NM_001164496.1. [Q96MT7-2]
NP_060808.2. NM_018338.3. [Q96MT7-1]
UniGeneiHs.584936.

3D structure databases

ProteinModelPortaliQ96MT7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120894. 1 interactor.
IntActiQ96MT7. 1 interactor.
STRINGi9606.ENSP00000377428.

PTM databases

iPTMnetiQ96MT7.
PhosphoSitePlusiQ96MT7.

Polymorphism and mutation databases

BioMutaiWDR52.
DMDMi74760982.

Proteomic databases

PaxDbiQ96MT7.
PeptideAtlasiQ96MT7.
PRIDEiQ96MT7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295868; ENSP00000295868; ENSG00000206530. [Q96MT7-1]
GeneIDi55779.
KEGGihsa:55779.
UCSCiuc003ead.2. human. [Q96MT7-1]

Organism-specific databases

CTDi55779.
GeneCardsiCFAP44.
HGNCiHGNC:25631. CFAP44.
HPAiHPA067258.
neXtProtiNX_Q96MT7.
OpenTargetsiENSG00000206530.
ENSG00000283241.
PharmGKBiPA134928828.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS9Z. Eukaryota.
ENOG410XRYZ. LUCA.
GeneTreeiENSGT00550000074369.
HOGENOMiHOG000068177.
HOVERGENiHBG075037.
InParanoidiQ96MT7.
OMAiKGRKPCH.
OrthoDBiEOG091G01ED.
PhylomeDBiQ96MT7.
TreeFamiTF323192.

Enzyme and pathway databases

BioCyciZFISH:G66-32278-MONOMER.
SignaLinkiQ96MT7.

Miscellaneous databases

GenomeRNAii55779.
PROiQ96MT7.

Gene expression databases

BgeeiENSG00000206530.
CleanExiHS_WDR52.
ExpressionAtlasiQ96MT7. baseline and differential.
GenevisibleiQ96MT7. HS.

Family and domain databases

Gene3Di2.130.10.10. 4 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCFA44_HUMAN
AccessioniPrimary (citable) accession number: Q96MT7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 126 of the entry and version 1 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 3
    Human chromosome 3: 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.