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Protein

Cilia- and flagella-associated protein 52

Gene

CFAP52

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in cell growth and/or survival.1 Publication

Enzyme and pathway databases

SignaLinkiQ8N1V2.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 52Imported
Alternative name(s):
WD repeat-containing protein 16Imported
WD40-repeat protein up-regulated in HCC1 Publication
Gene namesi
Name:CFAP52Imported
Synonyms:WDR16Imported, WDRPUH1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:16053. CFAP52.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Cell projectionciliumflagellum By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38084.

Polymorphism and mutation databases

BioMutaiWDR16.
DMDMi146291099.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 620620Cilia- and flagella-associated protein 52PRO_0000233153Add
BLAST

Proteomic databases

PaxDbiQ8N1V2.
PeptideAtlasiQ8N1V2.
PRIDEiQ8N1V2.

PTM databases

iPTMnetiQ8N1V2.
PhosphoSiteiQ8N1V2.

Expressioni

Tissue specificityi

Highly expressed in testis. Up-regulated in hepatocellular carcinoma (HCC).1 Publication

Gene expression databases

BgeeiQ8N1V2.
CleanExiHS_WDR16.
ExpressionAtlasiQ8N1V2. baseline and differential.
GenevisibleiQ8N1V2. HS.

Organism-specific databases

HPAiHPA023247.
HPA023562.

Interactioni

Protein-protein interaction databases

BioGridi127014. 10 interactions.
IntActiQ8N1V2. 3 interactions.
STRINGi9606.ENSP00000339449.

Structurei

3D structure databases

ProteinModelPortaliQ8N1V2.
SMRiQ8N1V2. Positions 25-146, 293-617.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati62 – 10645WD 1Sequence analysisAdd
BLAST
Repeati109 – 15042WD 2Sequence analysisAdd
BLAST
Repeati156 – 19540WD 3Sequence analysisAdd
BLAST
Repeati288 – 32740WD 4Sequence analysisAdd
BLAST
Repeati330 – 36940WD 5Sequence analysisAdd
BLAST
Repeati372 – 41140WD 6Sequence analysisAdd
BLAST
Repeati415 – 45440WD 7Sequence analysisAdd
BLAST
Repeati459 – 49840WD 8Sequence analysisAdd
BLAST
Repeati500 – 53940WD 9Sequence analysisAdd
BLAST
Repeati543 – 58240WD 10Sequence analysisAdd
BLAST
Repeati585 – 62036WD 11Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the CFAP52 family.Curated
Contains 11 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0266. Eukaryota.
ENOG410XP3K. LUCA.
GeneTreeiENSGT00840000129772.
HOGENOMiHOG000258436.
HOVERGENiHBG055224.
InParanoidiQ8N1V2.
OMAiMKRIVMS.
OrthoDBiEOG71P297.
PhylomeDBiQ8N1V2.
TreeFamiTF323254.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR033015. CFAP52.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR13720:SF14. PTHR13720:SF14. 1 hit.
PfamiPF00400. WD40. 5 hits.
[Graphical view]
SMARTiSM00320. WD40. 11 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N1V2-1) [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
MDNKISPEAQ VAELELDAVI GFNGHVPTGL KCHPDQEHMI YPLGCTVLIQ
60 70 80 90 100
AINTKEQNFL QGHGNNVSCL AISRSGEYIA SGQVTFMGFK ADIILWDYKN
110 120 130 140 150
RELLARLSLH KGKIEALAFS PNDLYLVSLG GPDDGSVVVW SIAKRDAICG
160 170 180 190 200
SPAAGLNVGN ATNVIFSRCR DEMFMTAGNG TIRVWELDLP NRKIWPTECQ
210 220 230 240 250
TGQLKRIVMS IGVDDDDSFF YLGTTTGDIL KMNPRTKLLT DVGPAKDKFS
260 270 280 290 300
LGVSAIRCLK MGGLLVGSGA GLLVFCKSPG YKPIKKIQLQ GGITSITLRG
310 320 330 340 350
EGHQFLVGTE ESHIYRVSFT DFKETLIATC HFDAVEDIVF PFGTAELFAT
360 370 380 390 400
CAKKDIRVWH TSSNRELLRI TVPNMTCHGI DFMRDGKSII SAWNDGKIRA
410 420 430 440 450
FAPETGRLMY VINNAHRIGV TAIATTSDCK RVISGGGEGE VRVWQIGCQT
460 470 480 490 500
QKLEEALKEH KSSVSCIRVK RNNEECVTAS TDGTCIIWDL VRLRRNQMIL
510 520 530 540 550
ANTLFQCVCY HPEEFQIITS GTDRKIAYWE VFDGTVIREL EGSLSGSING
560 570 580 590 600
MDITQEGVHF VTGGNDHLVK VWDYNEGEVT HVGVGHSGNI TRIRISPGNQ
610 620
YIVSVSADGA ILRWKYPYTS
Length:620
Mass (Da):68,298
Last modified:May 1, 2007 - v3
Checksum:iDC2F5DC3994CD7DD
GO
Isoform 2 (identifier: Q8N1V2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MDNKISPEAQVAELELDAVIGFN → MEAVVLPWQIFGVRELPVERGVTMKGPRLFRAP

Note: No experimental confirmation available.
Show »
Length:630
Mass (Da):69,575
Checksum:i9FA6195B75B4D0C4
GO
Isoform 3 (identifier: Q8N1V2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-91: Missing.

Note: No experimental confirmation available.
Show »
Length:552
Mass (Da):60,957
Checksum:iF67217BF3FC71AC8
GO

Sequence cautioni

The sequence BAB85083.1 differs from that shown. Reason: Frameshift at position 183. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti91 – 911A → V in AAH25392 (PubMed:15489334).Curated
Sequence conflicti199 – 1991C → S in AAH25392 (PubMed:15489334).Curated
Sequence conflicti243 – 2431G → E in BAB85083 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti336 – 3361E → K.2 Publications
Corresponds to variant rs6503235 [ dbSNP | Ensembl ].
VAR_026057

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2323MDNKI…VIGFN → MEAVVLPWQIFGVRELPVER GVTMKGPRLFRAP in isoform 2. 1 PublicationVSP_018067Add
BLAST
Alternative sequencei24 – 9168Missing in isoform 3. 1 PublicationVSP_018068Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB065281 mRNA. Translation: BAB83743.1.
AK074435 mRNA. Translation: BAB85083.1. Frameshift.
AK094847 mRNA. Translation: BAC04435.1.
AK315679 mRNA. Translation: BAG38044.1.
AC087501 Genomic DNA. No translation available.
AC118755 Genomic DNA. No translation available.
BC025392 mRNA. Translation: AAH25392.1.
CCDSiCCDS11149.2. [Q8N1V2-1]
CCDS42262.1. [Q8N1V2-3]
RefSeqiNP_001074025.1. NM_001080556.1. [Q8N1V2-3]
NP_659491.4. NM_145054.4.
UniGeneiHs.232270.

Genome annotation databases

EnsembliENST00000352665; ENSP00000339449; ENSG00000166596. [Q8N1V2-1]
ENST00000396219; ENSP00000379521; ENSG00000166596. [Q8N1V2-3]
GeneIDi146845.
KEGGihsa:146845.
UCSCiuc002gly.5. human. [Q8N1V2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB065281 mRNA. Translation: BAB83743.1.
AK074435 mRNA. Translation: BAB85083.1. Frameshift.
AK094847 mRNA. Translation: BAC04435.1.
AK315679 mRNA. Translation: BAG38044.1.
AC087501 Genomic DNA. No translation available.
AC118755 Genomic DNA. No translation available.
BC025392 mRNA. Translation: AAH25392.1.
CCDSiCCDS11149.2. [Q8N1V2-1]
CCDS42262.1. [Q8N1V2-3]
RefSeqiNP_001074025.1. NM_001080556.1. [Q8N1V2-3]
NP_659491.4. NM_145054.4.
UniGeneiHs.232270.

3D structure databases

ProteinModelPortaliQ8N1V2.
SMRiQ8N1V2. Positions 25-146, 293-617.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127014. 10 interactions.
IntActiQ8N1V2. 3 interactions.
STRINGi9606.ENSP00000339449.

PTM databases

iPTMnetiQ8N1V2.
PhosphoSiteiQ8N1V2.

Polymorphism and mutation databases

BioMutaiWDR16.
DMDMi146291099.

Proteomic databases

PaxDbiQ8N1V2.
PeptideAtlasiQ8N1V2.
PRIDEiQ8N1V2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352665; ENSP00000339449; ENSG00000166596. [Q8N1V2-1]
ENST00000396219; ENSP00000379521; ENSG00000166596. [Q8N1V2-3]
GeneIDi146845.
KEGGihsa:146845.
UCSCiuc002gly.5. human. [Q8N1V2-1]

Organism-specific databases

CTDi146845.
GeneCardsiCFAP52.
HGNCiHGNC:16053. CFAP52.
HPAiHPA023247.
HPA023562.
MIMi609804. gene.
neXtProtiNX_Q8N1V2.
PharmGKBiPA38084.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0266. Eukaryota.
ENOG410XP3K. LUCA.
GeneTreeiENSGT00840000129772.
HOGENOMiHOG000258436.
HOVERGENiHBG055224.
InParanoidiQ8N1V2.
OMAiMKRIVMS.
OrthoDBiEOG71P297.
PhylomeDBiQ8N1V2.
TreeFamiTF323254.

Enzyme and pathway databases

SignaLinkiQ8N1V2.

Miscellaneous databases

ChiTaRSiWDR16. human.
GenomeRNAii146845.
PROiQ8N1V2.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N1V2.
CleanExiHS_WDR16.
ExpressionAtlasiQ8N1V2. baseline and differential.
GenevisibleiQ8N1V2. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR033015. CFAP52.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR13720:SF14. PTHR13720:SF14. 1 hit.
PfamiPF00400. WD40. 5 hits.
[Graphical view]
SMARTiSM00320. WD40. 11 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation."
    Silva F.P., Hamamoto R., Nakamura Y., Furukawa Y.
    Neoplasia 7:348-355(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH HSP70; CCT CHAPERONIN COMPLEX AND BRCA2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "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] (ISOFORMS 1; 2 AND 3), VARIANT LYS-336.
    Tissue: Caudate nucleus, Lung and Testis.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    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), VARIANT LYS-336.
    Tissue: Testis.

Entry informationi

Entry nameiCFA52_HUMAN
AccessioniPrimary (citable) accession number: Q8N1V2
Secondary accession number(s): B2RDU7
, Q5DX23, Q8TC73, Q8TCI3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 1, 2007
Last modified: July 6, 2016
This is version 119 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

Miscellaneous

May be a good candidate as a diagnostic marker for HCC as well as a potential molecular target for development of novel therapeutic drugs.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.