C19L1_DANRE
ID C19L1_DANRE Reviewed; 544 AA.
AC Q5RGJ5; Q0P469;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 97.
DE RecName: Full=CWF19-like protein 1;
GN Name=cwf19l1; ORFNames=si:ch211-234f20.6, zgc:153338;
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 [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=25361784; DOI=10.1212/wnl.0000000000001053;
RA Burns R., Majczenko K., Xu J., Peng W., Yapici Z., Dowling J.J., Li J.Z.,
RA Burmeister M.;
RT "Homozygous splice mutation in CWF19L1 in a Turkish family with recessive
RT ataxia syndrome.";
RL Neurology 83:2175-2182(2014).
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes
CC reduced swim speed and abnormal touch-evoked escape response. Morphants
CC exhibit abnormal cerebellar structure. {ECO:0000269|PubMed:25361784}.
CC -!- SIMILARITY: Belongs to the CWF19 family. {ECO:0000305}.
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DR EMBL; BX890572; CAI11847.1; -; Genomic_DNA.
DR EMBL; BC122248; AAI22249.1; -; mRNA.
DR RefSeq; NP_001038223.1; NM_001044758.1.
DR AlphaFoldDB; Q5RGJ5; -.
DR SMR; Q5RGJ5; -.
DR STRING; 7955.ENSDARP00000010750; -.
DR PaxDb; Q5RGJ5; -.
DR Ensembl; ENSDART00000026509; ENSDARP00000010750; ENSDARG00000002128.
DR GeneID; 387304; -.
DR KEGG; dre:387304; -.
DR CTD; 55280; -.
DR ZFIN; ZDB-GENE-031204-5; cwf19l1.
DR eggNOG; KOG2476; Eukaryota.
DR GeneTree; ENSGT00940000156000; -.
DR HOGENOM; CLU_019955_2_0_1; -.
DR InParanoid; Q5RGJ5; -.
DR OMA; VCPNLYF; -.
DR OrthoDB; 414028at2759; -.
DR PhylomeDB; Q5RGJ5; -.
DR TreeFam; TF105790; -.
DR PRO; PR:Q5RGJ5; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 4.
DR Bgee; ENSDARG00000002128; Expressed in mature ovarian follicle and 27 other tissues.
DR ExpressionAtlas; Q5RGJ5; baseline.
DR GO; GO:0071014; C:post-mRNA release spliceosomal complex; IBA:GO_Central.
DR GO; GO:0061632; F:RNA lariat debranching enzyme activator activity; IBA:GO_Central.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; IBA:GO_Central.
DR Gene3D; 3.30.428.10; -; 1.
DR InterPro; IPR040194; Cwf19-like.
DR InterPro; IPR006768; Cwf19-like_C_dom-1.
DR InterPro; IPR006767; Cwf19-like_C_dom-2.
DR InterPro; IPR036265; HIT-like_sf.
DR InterPro; IPR029052; Metallo-depent_PP-like.
DR PANTHER; PTHR12072; PTHR12072; 2.
DR Pfam; PF04677; CwfJ_C_1; 1.
DR Pfam; PF04676; CwfJ_C_2; 1.
DR SUPFAM; SSF54197; SSF54197; 1.
DR SUPFAM; SSF56300; SSF56300; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..544
FT /note="CWF19-like protein 1"
FT /id="PRO_0000315644"
FT REGION 255..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 521..544
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 266..283
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 303..323
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 57
FT /note="T -> A (in Ref. 2; AAI22249)"
FT /evidence="ECO:0000305"
FT CONFLICT 280
FT /note="S -> P (in Ref. 2; AAI22249)"
FT /evidence="ECO:0000305"
FT CONFLICT 539
FT /note="D -> G (in Ref. 2; AAI22249)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 544 AA; 61444 MW; 41AC9C177B2E2E2F CRC64;
MGDKPLRVLA CGDVEGRINA LFNRVNAIQK KSGQFDLLLC VGDFFGSSPE AEAEWATYKS
GAKKAPIHTC ILGAASQETV KYFPSSDGCE LAENITCLGR RGIFTGASGL QIAYVSGREA
HQEPAPSHCF TPKDITALVA PLLSNSKFRG VDILLTSQWP RGVCQYGNSP ETDMKFCGVS
SIADLADKLK PRYHFAGLEG VHYERLPYRN HVVLQENTQH VSRFIALATV NNPAKKKYLY
AFNIIPMKNM DSTELVKQPQ DVTENPYRKL MKDGKKERQS ASMTDAQEEP ASQFFFDLGQ
KNPQRQHGRK RQSDGDRPNQ HKQPRRPPQP TGPCWFCLAS PEVEKHLVIS IGTHCYMALA
KGGLTPDHVL LLPIGHYQSV VDLASEVVEE MEKYKSAFKK FCKSKGKRCV LFERNYRSQH
LQLQAVPVPM EKCSTEDIKE AFMTQAEEQQ MELMEIPAHT DLKQIAPPGT PYFYVELDTG
DKLFYRIKKN FPLQFGREVL ASEAVMNIPM RSDWRECKIS REEEEDQAKQ VRSDYEPFDF
ALDD
