IFT57_DANRE
ID IFT57_DANRE Reviewed; 407 AA.
AC Q6IVW0; Q502T5; Q56HB0; Q6J504;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 102.
DE RecName: Full=Intraflagellar transport protein 57 homolog;
GN Name=ift57;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=15269167; DOI=10.1242/dev.01240;
RA Sun Z., Amsterdam A., Pazour G.J., Cole D.G., Miller M.S., Hopkins N.;
RT "A genetic screen in zebrafish identifies cilia genes as a principal cause
RT of cystic kidney.";
RL Development 131:4085-4093(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=15790966; DOI=10.1242/dev.01772;
RA Kramer-Zucker A.G., Olale F., Haycraft C.J., Yoder B.K., Schier A.F.,
RA Drummond I.A.;
RT "Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's
RT vesicle is required for normal organogenesis.";
RL Development 132:1907-1921(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 9-407, FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=15182712; DOI=10.1016/s0896-6273(04)00268-5;
RA Tsujikawa M., Malicki J.;
RT "Intraflagellar transport genes are essential for differentiation and
RT survival of vertebrate sensory neurons.";
RL Neuron 42:703-716(2004).
RN [5]
RP FUNCTION.
RX PubMed=18056639; DOI=10.1073/pnas.0706934104;
RA Sarmah B., Winfrey V.P., Olson G.E., Appel B., Wente S.R.;
RT "A role for the inositol kinase Ipk1 in ciliary beating and length
RT maintenance.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:19843-19848(2007).
CC -!- FUNCTION: Required for the formation of cilia. Essential for
CC differentiation and survival of sensory neurons. May also have pro-
CC apoptotic function. {ECO:0000269|PubMed:15182712,
CC ECO:0000269|PubMed:15269167, ECO:0000269|PubMed:15790966,
CC ECO:0000269|PubMed:18056639}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}.
CC -!- DISRUPTION PHENOTYPE: Fishes show ciliary defects. In retina, cilia are
CC generated but not maintained, producing the absence of photoreceptor
CC outer segments. A loss of cilia also occurs in auditory hair cells and
CC olfactory sensory neurons. In all 3 sense organs, cilia defects are
CC followed by degeneration of sensory cells.
CC {ECO:0000269|PubMed:15182712, ECO:0000269|PubMed:15269167,
CC ECO:0000269|PubMed:15790966}.
CC -!- SIMILARITY: Belongs to the IFT57 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAT27467.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY618924; AAT39120.1; -; mRNA.
DR EMBL; AY956331; AAX56964.1; -; mRNA.
DR EMBL; BC095565; AAH95565.1; -; mRNA.
DR EMBL; AY600454; AAT27467.1; ALT_INIT; mRNA.
DR RefSeq; NP_001001832.1; NM_001001832.1.
DR AlphaFoldDB; Q6IVW0; -.
DR SMR; Q6IVW0; -.
DR STRING; 7955.ENSDARP00000013774; -.
DR PaxDb; Q6IVW0; -.
DR Ensembl; ENSDART00000012919; ENSDARP00000013774; ENSDARG00000021022.
DR GeneID; 414929; -.
DR KEGG; dre:414929; -.
DR CTD; 55081; -.
DR ZFIN; ZDB-GENE-040614-1; ift57.
DR eggNOG; KOG0972; Eukaryota.
DR GeneTree; ENSGT00390000006307; -.
DR HOGENOM; CLU_039132_0_0_1; -.
DR InParanoid; Q6IVW0; -.
DR OMA; VHAHDQD; -.
DR OrthoDB; 839892at2759; -.
DR PhylomeDB; Q6IVW0; -.
DR TreeFam; TF106156; -.
DR Reactome; R-DRE-5610787; Hedgehog 'off' state.
DR Reactome; R-DRE-5620924; Intraflagellar transport.
DR PRO; PR:Q6IVW0; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 2.
DR Bgee; ENSDARG00000021022; Expressed in testis and 24 other tissues.
DR GO; GO:0005813; C:centrosome; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005929; C:cilium; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0030992; C:intraciliary transport particle B; ISS:UniProtKB.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IMP:ZFIN.
DR GO; GO:0007368; P:determination of left/right symmetry; IGI:ZFIN.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IMP:ZFIN.
DR GO; GO:0042462; P:eye photoreceptor cell development; IMP:ZFIN.
DR GO; GO:0042073; P:intraciliary transport; IMP:ZFIN.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:ZFIN.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:ZFIN.
DR GO; GO:0032006; P:regulation of TOR signaling; IMP:ZFIN.
DR InterPro; IPR019530; Intra-flagellar_transport_57.
DR PANTHER; PTHR16011; PTHR16011; 1.
DR Pfam; PF10498; IFT57; 1.
PE 2: Evidence at transcript level;
KW Apoptosis; Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..407
FT /note="Intraflagellar transport protein 57 homolog"
FT /id="PRO_0000328886"
FT REGION 313..404
FT /note="pDED"
FT COILED 158..186
FT /evidence="ECO:0000255"
FT COILED 283..373
FT /evidence="ECO:0000255"
FT CONFLICT 70
FT /note="A -> S (in Ref. 3; AAH95565 and 4; AAT27467)"
FT /evidence="ECO:0000305"
FT CONFLICT 189
FT /note="D -> E (in Ref. 3; AAH95565 and 4; AAT27467)"
FT /evidence="ECO:0000305"
FT CONFLICT 214
FT /note="A -> T (in Ref. 2; AAX56964)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 407 AA; 46593 MW; 5E04C15BF8A516A4 CRC64;
MAEEEERGPG SVYQMFVLME DLLDKLKVLD YEQHVLDKHN IKPLSRHYFV SSPHVLSNPG
EQFYMFSVIA AWLITLCGRP FDTPQEYDDP NATVSNILSE LRTLGGQVDF PPSKLKTGSG
EHVCYVLDQL VEKALKSKGF AWNRPLYPSV EVEDECVQED DAELTLSKVE EEMTQEDEEY
EEEDGLDLDA LKTRTNGELS GSRPAVVLES DVDAAEWNLE VERVLPQLKV TIRTDNKDWR
IHLDQMHQHQ DGINTSLQDA KGCLFKLRED ISKTLEKVSS REKYLNTQLE HLISEYRQAQ
SQLNKVKELY QQASGGVTER TRILAEISEE LDKVKQEMEE KGSSMSDGAP VVKIRQSLTK
LKQEIEQMDV RMGVVEHTLL QAKLREKNNM TRDMHATHLL EPNAQAY
