IFT52_HUMAN
ID IFT52_HUMAN Reviewed; 437 AA.
AC Q9Y366; B3KMA1; E1P5W9; Q5H8Z0; Q9H1G3; Q9H1G4; Q9H1H2;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Intraflagellar transport protein 52 homolog;
DE AltName: Full=Protein NGD5 homolog;
GN Name=IFT52; Synonyms=C20orf9, NGD5; ORFNames=CGI-53;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INTERACTION WITH TTC25.
RX PubMed=25860617; DOI=10.1371/journal.pone.0124378;
RA Xu Y., Cao J., Huang S., Feng D., Zhang W., Zhu X., Yan X.;
RT "Characterization of tetratricopeptide repeat-containing proteins critical
RT for cilia formation and function.";
RL PLoS ONE 10:E0124378-E0124378(2015).
RN [7]
RP INVOLVEMENT IN SRTD16.
RX PubMed=26880018; DOI=10.1111/cge.12762;
RA Girisha K.M., Shukla A., Trujillano D., Bhavani G.S., Hebbar M.,
RA Kadavigere R., Rolfs A.;
RT "A homozygous nonsense variant in IFT52 is associated with a human skeletal
RT ciliopathy.";
RL Clin. Genet. 90:536-539(2016).
RN [8]
RP FUNCTION, INVOLVEMENT IN SRTD16, AND VARIANT SRTD16 THR-199.
RX PubMed=27466190; DOI=10.1093/hmg/ddw241;
RG University of Washington Center for Mendelian Genomics Consortium;
RA Zhang W., Taylor S.P., Nevarez L., Lachman R.S., Nickerson D.A.,
RA Bamshad M., Krakow D., Cohn D.H.;
RT "IFT52 mutations destabilize anterograde complex assembly, disrupt
RT ciliogenesis and result in short rib polydactyly syndrome.";
RL Hum. Mol. Genet. 25:4012-4020(2016).
RN [9]
RP INTERACTION WITH TTC21A.
RX PubMed=30929735; DOI=10.1016/j.ajhg.2019.02.020;
RA Liu W., He X., Yang S., Zouari R., Wang J., Wu H., Kherraf Z.E., Liu C.,
RA Coutton C., Zhao R., Tang D., Tang S., Lv M., Fang Y., Li W., Li H.,
RA Zhao J., Wang X., Zhao S., Zhang J., Arnoult C., Jin L., Zhang Z.,
RA Ray P.F., Cao Y., Zhang F.;
RT "Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and
RT mice.";
RL Am. J. Hum. Genet. 104:738-748(2019).
RN [10]
RP INTERACTION WITH USH1G.
RX PubMed=31637240; DOI=10.3389/fcell.2019.00216;
RA Sorusch N., Yildirim A., Knapp B., Janson J., Fleck W., Scharf C.,
RA Wolfrum U.;
RT "SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to
RT the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.";
RL Front. Cell Dev. Biol. 7:216-216(2019).
CC -!- FUNCTION: Involved in ciliogenesis as part of a complex involved in
CC intraflagellar transport (IFT), the bi-directional movement of
CC particles required for the assembly, maintenance and functioning of
CC primary cilia (PubMed:27466190). Required for the anterograde transport
CC of IFT88 (PubMed:27466190). {ECO:0000269|PubMed:27466190}.
CC -!- SUBUNIT: Component of the IFT complex B, at least composed of IFT20,
CC IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74,
CC IFT80, IFT81, and IFT88 (By similarity). Interacts with IFT88 (By
CC similarity). Interacts with TTC25 (PubMed:25860617). Interacts with
CC TTC21A (PubMed:30929735). Interacts with TTC30A1, TTC30A2, TTC30B and
CC KIF17 (By similarity). Interacts with USH1G (PubMed:31637240).
CC {ECO:0000250|UniProtKB:Q62559, ECO:0000269|PubMed:25860617,
CC ECO:0000269|PubMed:30929735, ECO:0000269|PubMed:31637240}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q62559}.
CC -!- DISEASE: Short-rib thoracic dysplasia 16 with or without polydactyly
CC (SRTD16) [MIM:617102]: A form of short-rib thoracic dysplasia, a group
CC of autosomal recessive ciliopathies that are characterized by a
CC constricted thoracic cage, short ribs, shortened tubular bones, and a
CC 'trident' appearance of the acetabular roof. Polydactyly is variably
CC present. Non-skeletal involvement can include cleft lip/palate as well
CC as anomalies of major organs such as the brain, eye, heart, kidneys,
CC liver, pancreas, intestines, and genitalia. Some forms of the disease
CC are lethal in the neonatal period due to respiratory insufficiency
CC secondary to a severely restricted thoracic cage, whereas others are
CC compatible with life. Disease spectrum encompasses Ellis-van Creveld
CC syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-
CC Saldino syndrome, and short rib-polydactyly syndrome.
CC {ECO:0000269|PubMed:26880018, ECO:0000269|PubMed:27466190}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
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DR EMBL; AF151811; AAD34048.1; -; mRNA.
DR EMBL; AK001436; BAG50913.1; -; mRNA.
DR EMBL; AL121886; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z98752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75953.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75954.1; -; Genomic_DNA.
DR EMBL; BC039831; AAH39831.1; -; mRNA.
DR CCDS; CCDS33470.1; -.
DR RefSeq; NP_001290387.1; NM_001303458.2.
DR RefSeq; NP_057088.2; NM_016004.4.
DR AlphaFoldDB; Q9Y366; -.
DR SMR; Q9Y366; -.
DR BioGRID; 119287; 36.
DR ComplexPortal; CPX-5022; IFT-B complex.
DR CORUM; Q9Y366; -.
DR IntAct; Q9Y366; 24.
DR STRING; 9606.ENSP00000362121; -.
DR iPTMnet; Q9Y366; -.
DR PhosphoSitePlus; Q9Y366; -.
DR BioMuta; IFT52; -.
DR DMDM; 116242524; -.
DR EPD; Q9Y366; -.
DR jPOST; Q9Y366; -.
DR MassIVE; Q9Y366; -.
DR MaxQB; Q9Y366; -.
DR PaxDb; Q9Y366; -.
DR PeptideAtlas; Q9Y366; -.
DR PRIDE; Q9Y366; -.
DR ProteomicsDB; 85977; -.
DR Antibodypedia; 43646; 39 antibodies from 17 providers.
DR DNASU; 51098; -.
DR Ensembl; ENST00000373030.8; ENSP00000362121.3; ENSG00000101052.13.
DR Ensembl; ENST00000373039.4; ENSP00000362130.4; ENSG00000101052.13.
DR GeneID; 51098; -.
DR KEGG; hsa:51098; -.
DR MANE-Select; ENST00000373030.8; ENSP00000362121.3; NM_016004.5; NP_057088.2.
DR UCSC; uc002xkw.4; human.
DR CTD; 51098; -.
DR DisGeNET; 51098; -.
DR GeneCards; IFT52; -.
DR GeneReviews; IFT52; -.
DR HGNC; HGNC:15901; IFT52.
DR HPA; ENSG00000101052; Low tissue specificity.
DR MalaCards; IFT52; -.
DR MIM; 617094; gene.
DR MIM; 617102; phenotype.
DR neXtProt; NX_Q9Y366; -.
DR OpenTargets; ENSG00000101052; -.
DR Orphanet; 1515; Cranioectodermal dysplasia.
DR PharmGKB; PA25796; -.
DR VEuPathDB; HostDB:ENSG00000101052; -.
DR eggNOG; KOG3861; Eukaryota.
DR GeneTree; ENSGT00390000011581; -.
DR HOGENOM; CLU_027692_0_0_1; -.
DR InParanoid; Q9Y366; -.
DR OMA; KNERFQI; -.
DR OrthoDB; 925838at2759; -.
DR PhylomeDB; Q9Y366; -.
DR TreeFam; TF105916; -.
DR PathwayCommons; Q9Y366; -.
DR Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q9Y366; -.
DR BioGRID-ORCS; 51098; 8 hits in 1080 CRISPR screens.
DR ChiTaRS; IFT52; human.
DR GenomeRNAi; 51098; -.
DR Pharos; Q9Y366; Tbio.
DR PRO; PR:Q9Y366; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9Y366; protein.
DR Bgee; ENSG00000101052; Expressed in ganglionic eminence and 172 other tissues.
DR Genevisible; Q9Y366; HS.
DR GO; GO:0005814; C:centriole; IBA:GO_Central.
DR GO; GO:0005813; C:centrosome; IEA:Ensembl.
DR GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
DR GO; GO:0097546; C:ciliary base; IDA:UniProtKB.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; IBA:GO_Central.
DR GO; GO:0044292; C:dendrite terminus; IEA:Ensembl.
DR GO; GO:0030992; C:intraciliary transport particle B; IPI:ComplexPortal.
DR GO; GO:0031514; C:motile cilium; ISS:BHF-UCL.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR GO; GO:0008022; F:protein C-terminus binding; ISS:BHF-UCL.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IEA:Ensembl.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR GO; GO:0035720; P:intraciliary anterograde transport; IMP:UniProtKB.
DR GO; GO:0042073; P:intraciliary transport; IBA:GO_Central.
DR GO; GO:0043616; P:keratinocyte proliferation; IEA:Ensembl.
DR GO; GO:0010839; P:negative regulation of keratinocyte proliferation; IEA:Ensembl.
DR GO; GO:0001841; P:neural tube formation; IEA:Ensembl.
DR GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
DR GO; GO:0070613; P:regulation of protein processing; IEA:Ensembl.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR InterPro; IPR019196; ABC_transp_unknown.
DR InterPro; IPR039975; IFT52.
DR PANTHER; PTHR12969; PTHR12969; 1.
DR Pfam; PF09822; ABC_transp_aux; 1.
PE 1: Evidence at protein level;
KW Cell projection; Ciliopathy; Cilium; Cilium biogenesis/degradation;
KW Disease variant; Reference proteome.
FT CHAIN 1..437
FT /note="Intraflagellar transport protein 52 homolog"
FT /id="PRO_0000084167"
FT VARIANT 199
FT /note="A -> T (in SRTD16; dbSNP:rs886037869)"
FT /evidence="ECO:0000269|PubMed:27466190"
FT /id="VAR_077805"
FT CONFLICT 84
FT /note="F -> L (in Ref. 1; AAD34048)"
FT /evidence="ECO:0000305"
FT CONFLICT 149..150
FT /note="PG -> LA (in Ref. 1; AAD34048)"
FT /evidence="ECO:0000305"
FT CONFLICT 235
FT /note="V -> VV (in Ref. 1; AAD34048)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 437 AA; 49706 MW; A388E242BDA238A0 CRC64;
MEKELRSTIL FNAYKKEIFT TNNGYKSMQK KLRSNWKIQS LKDEITSEKL NGVKLWITAG
PREKFTAAEF EILKKYLDTG GDVFVMLGEG GESRFDTNIN FLLEEYGIMV NNDAVVRNVY
HKYFHPKEAL VSSGVLNREI SRAAGKAVPG IIDEESSGNN AQALTFVYPF GATLSVMKPA
VAVLSTGSVC FPLNRPILAF YHSKNQGGKL AVLGSCHMFS DQYLDKEENS KIMDVVFQWL
TTGDIHLNQI DAEDPEISDY MMLPYTATLS KRNRECLQES DEIPRDFTTL FDLSIFQLDT
TSFHSVIEAH EQLNVKHEPL QLIQPQFETP LPTLQPAVFP PSFRELPPPP LELFDLDETF
SSEKARLAQI TNKCTEEDLE FYVRKCGDIL GVTSKLPKDQ QDAKHILEHV FFQVVEFKKL
NQEHDIDTSE TAFQNNF
