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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

Enzyme and pathway databases

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

PharmGKBiPA134928828.

Polymorphism and mutation databases

BioMutaiWDR52.
DMDMi74760982.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 982982Cilia- and flagella-associated protein 44PRO_0000305102Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q96MT7-2)
Modified residuei1083 – 10831PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96MT7.
PaxDbiQ96MT7.
PRIDEiQ96MT7.

PTM databases

iPTMnetiQ96MT7.
PhosphoSiteiQ96MT7.

Expressioni

Gene expression databases

BgeeiQ96MT7.
CleanExiHS_WDR52.
ExpressionAtlasiQ96MT7. baseline and differential.
GenevisibleiQ96MT7. HS.

Organism-specific databases

HPAiHPA067258.

Interactioni

Protein-protein interaction databases

BioGridi120894. 1 interaction.
STRINGi9606.ENSP00000377428.

Structurei

3D structure databases

ProteinModelPortaliQ96MT7.
SMRiQ96MT7. Positions 128-626.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati226 – 26742WD 1Sequence analysisAdd
BLAST
Repeati270 – 30940WD 2Sequence analysisAdd
BLAST
Repeati315 – 35844WD 3Sequence analysisAdd
BLAST
Repeati365 – 40238WD 4Sequence analysisAdd
BLAST
Repeati468 – 50740WD 5Sequence analysisAdd
BLAST
Repeati513 – 55341WD 6Sequence analysisAdd
BLAST
Repeati573 – 61240WD 7Sequence analysisAdd
BLAST
Repeati804 – 84340WD 8Sequence analysisAdd
BLAST
Repeati856 – 89540WD 9Sequence analysisAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili931 – 95828Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi688 – 74154Glu-richAdd
BLAST

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.
GeneTreeiENSGT00390000003502.
HOGENOMiHOG000068177.
HOVERGENiHBG075037.
InParanoidiQ96MT7.
OMAiKGRKPCH.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531K → E.
Corresponds to variant rs59722850 [ dbSNP | Ensembl ].
VAR_062105
Natural varianti284 – 2841K → N.
Corresponds to variant rs16845107 [ dbSNP | Ensembl ].
VAR_053435

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei979 – 9824VSLI → 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. CuratedVSP_040265

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]
XP_011511278.1. XM_011512976.1. [Q96MT7-2]
UniGeneiHs.584936.

Genome annotation databases

EnsembliENST00000295868; ENSP00000295868; ENSG00000206530. [Q96MT7-1]
ENST00000393845; ENSP00000377428; ENSG00000206530. [Q96MT7-2]
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]
XP_011511278.1. XM_011512976.1. [Q96MT7-2]
UniGeneiHs.584936.

3D structure databases

ProteinModelPortaliQ96MT7.
SMRiQ96MT7. Positions 128-626.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120894. 1 interaction.
STRINGi9606.ENSP00000377428.

PTM databases

iPTMnetiQ96MT7.
PhosphoSiteiQ96MT7.

Polymorphism and mutation databases

BioMutaiWDR52.
DMDMi74760982.

Proteomic databases

EPDiQ96MT7.
PaxDbiQ96MT7.
PRIDEiQ96MT7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295868; ENSP00000295868; ENSG00000206530. [Q96MT7-1]
ENST00000393845; ENSP00000377428; ENSG00000206530. [Q96MT7-2]
GeneIDi55779.
KEGGihsa:55779.
UCSCiuc003ead.2. human. [Q96MT7-1]

Organism-specific databases

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

Phylogenomic databases

eggNOGiENOG410IS9Z. Eukaryota.
ENOG410XRYZ. LUCA.
GeneTreeiENSGT00390000003502.
HOGENOMiHOG000068177.
HOVERGENiHBG075037.
InParanoidiQ96MT7.
OMAiKGRKPCH.
PhylomeDBiQ96MT7.
TreeFamiTF323192.

Enzyme and pathway databases

SignaLinkiQ96MT7.

Miscellaneous databases

GenomeRNAii55779.
PROiQ96MT7.

Gene expression databases

BgeeiQ96MT7.
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...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1083 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.

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: June 8, 2016
This is version 121 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.