C19L1_HUMAN
ID C19L1_HUMAN Reviewed; 538 AA.
AC Q69YN2; B4DHX1; D3DR66; Q5W0I3; Q96HC3; Q9H865; Q9NV13;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=CWF19-like protein 1;
DE Short=C19L1 {ECO:0000303|PubMed:25361784};
GN Name=CWF19L1;
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] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Caudate nucleus, Placenta, and Retinoblastoma;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
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] (ISOFORM 1).
RC TISSUE=Skin;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP INVOLVEMENT IN SCAR17, AND TISSUE SPECIFICITY.
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 -!- INTERACTION:
CC Q69YN2; Q2TBE0: CWF19L2; NbExp=3; IntAct=EBI-719164, EBI-5453285;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q69YN2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q69YN2-2; Sequence=VSP_030586, VSP_030588;
CC Name=3;
CC IsoId=Q69YN2-3; Sequence=VSP_030587;
CC -!- TISSUE SPECIFICITY: Expressed in many brain regions, including
CC cerebellum, thalamus and occipital, parietal and temporal lobes (at
CC protein level). Also expressed in the spinal cord (at protein level).
CC {ECO:0000269|PubMed:25361784}.
CC -!- DISEASE: Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17)
CC [MIM:616127]: A form of spinocerebellar ataxia, a clinically and
CC genetically heterogeneous group of cerebellar disorders. Patients show
CC progressive incoordination of gait and often poor coordination of
CC hands, speech and eye movements, due to degeneration of the cerebellum
CC with variable involvement of the brainstem and spinal cord. SCAR17
CC features include non-progressive congenital cerebellar ataxia, mildly
CC delayed walking with an unsteady gait and frequent falls, dysarthria,
CC dysmetria, hypotonia in the extremities, truncal ataxia, increased
CC reflexes in the lower extremities, and intellectual disability.
CC {ECO:0000269|PubMed:25361784}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. A disease-causing
CC mutation has been reported that affects an intronic splice donor site
CC and causes exon 9 skipping, this leads to an out-of-frame stop codon
CC after 60 aberrant amino acids. Patients carrying this mutation exhibit
CC much lower mRNA and protein levels compared to unaffected controls,
CC probably due to mRNA nonsense-mediated decay (PubMed:25361784).
CC {ECO:0000269|PubMed:25361784}.
CC -!- SIMILARITY: Belongs to the CWF19 family. {ECO:0000305}.
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DR EMBL; AK001860; BAA91947.1; -; mRNA.
DR EMBL; AK023984; BAB14754.1; -; mRNA.
DR EMBL; AL832515; CAH10625.1; -; mRNA.
DR EMBL; AK295303; BAG58283.1; -; mRNA.
DR EMBL; AL138921; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49838.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49839.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49843.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49844.1; -; Genomic_DNA.
DR EMBL; BC008746; AAH08746.1; -; mRNA.
DR CCDS; CCDS7489.1; -. [Q69YN2-1]
DR RefSeq; NP_001290333.1; NM_001303404.1.
DR RefSeq; NP_001290334.1; NM_001303405.1. [Q69YN2-3]
DR RefSeq; NP_001290335.1; NM_001303406.1. [Q69YN2-3]
DR RefSeq; NP_060764.3; NM_018294.5. [Q69YN2-1]
DR AlphaFoldDB; Q69YN2; -.
DR SMR; Q69YN2; -.
DR BioGRID; 120568; 87.
DR IntAct; Q69YN2; 15.
DR MINT; Q69YN2; -.
DR STRING; 9606.ENSP00000326411; -.
DR GlyGen; Q69YN2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q69YN2; -.
DR PhosphoSitePlus; Q69YN2; -.
DR BioMuta; CWF19L1; -.
DR DMDM; 166225917; -.
DR EPD; Q69YN2; -.
DR jPOST; Q69YN2; -.
DR MassIVE; Q69YN2; -.
DR MaxQB; Q69YN2; -.
DR PaxDb; Q69YN2; -.
DR PeptideAtlas; Q69YN2; -.
DR PRIDE; Q69YN2; -.
DR ProteomicsDB; 66161; -. [Q69YN2-1]
DR ProteomicsDB; 66162; -. [Q69YN2-2]
DR ProteomicsDB; 66163; -. [Q69YN2-3]
DR Antibodypedia; 49159; 110 antibodies from 17 providers.
DR DNASU; 55280; -.
DR Ensembl; ENST00000354105.10; ENSP00000326411.6; ENSG00000095485.18. [Q69YN2-1]
DR GeneID; 55280; -.
DR KEGG; hsa:55280; -.
DR MANE-Select; ENST00000354105.10; ENSP00000326411.6; NM_018294.6; NP_060764.3.
DR UCSC; uc001kqq.1; human. [Q69YN2-1]
DR CTD; 55280; -.
DR DisGeNET; 55280; -.
DR GeneCards; CWF19L1; -.
DR HGNC; HGNC:25613; CWF19L1.
DR HPA; ENSG00000095485; Low tissue specificity.
DR MalaCards; CWF19L1; -.
DR MIM; 616120; gene.
DR MIM; 616127; phenotype.
DR neXtProt; NX_Q69YN2; -.
DR OpenTargets; ENSG00000095485; -.
DR Orphanet; 453521; Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency.
DR PharmGKB; PA134864340; -.
DR VEuPathDB; HostDB:ENSG00000095485; -.
DR eggNOG; KOG2476; Eukaryota.
DR GeneTree; ENSGT00940000156000; -.
DR HOGENOM; CLU_019955_2_0_1; -.
DR InParanoid; Q69YN2; -.
DR OMA; VCPNLYF; -.
DR PhylomeDB; Q69YN2; -.
DR TreeFam; TF105790; -.
DR PathwayCommons; Q69YN2; -.
DR SignaLink; Q69YN2; -.
DR BioGRID-ORCS; 55280; 55 hits in 1040 CRISPR screens.
DR ChiTaRS; CWF19L1; human.
DR GenomeRNAi; 55280; -.
DR Pharos; Q69YN2; Tbio.
DR PRO; PR:Q69YN2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q69YN2; protein.
DR Bgee; ENSG00000095485; Expressed in monocyte and 143 other tissues.
DR ExpressionAtlas; Q69YN2; baseline and differential.
DR Genevisible; Q69YN2; HS.
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 PANTHER; PTHR12072; PTHR12072; 2.
DR Pfam; PF04677; CwfJ_C_1; 1.
DR Pfam; PF04676; CwfJ_C_2; 1.
DR SUPFAM; SSF54197; SSF54197; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Neurodegeneration; Reference proteome.
FT CHAIN 1..538
FT /note="CWF19-like protein 1"
FT /id="PRO_0000315641"
FT REGION 298..324
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 298..315
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..296
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030586"
FT VAR_SEQ 1..137
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_030587"
FT VAR_SEQ 297..323
FT /note="KQGRKRSSTGRDSKSSPHPKQPRKPPQ -> MKSREGSVHPQVEIANLLLIQ
FT SSLANL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030588"
FT VARIANT 160
FT /note="C -> Y (in dbSNP:rs2270962)"
FT /id="VAR_038264"
FT VARIANT 259
FT /note="P -> L (in dbSNP:rs7073610)"
FT /id="VAR_038265"
FT VARIANT 523
FT /note="R -> H (in dbSNP:rs35490714)"
FT /id="VAR_038266"
FT VARIANT 526
FT /note="R -> Q (in dbSNP:rs7922946)"
FT /id="VAR_038267"
FT CONFLICT 63
FT /note="A -> V (in Ref. 5; AAH08746)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 538 AA; 60619 MW; 63237331F41AD6AE CRC64;
MAQKPLRLLA CGDVEGKFDI LFNRVQAIQK KSGNFDLLLC VGNFFGSTQD AEWEEYKTGI
KKAPIQTYVL GANNQETVKY FQDADGCELA ENITYLGRKG IFTGSSGLQI VYLSGTESLN
EPVPGYSFSP KDVSSLRMML CTTSQFKGVD ILLTSPWPKC VGNFGNSSGE VDTKKCGSAL
VSSLATGLKP RYHFAALEKT YYERLPYRNH IILQENAQHA TRFIALANVG NPEKKKYLYA
FSIVPMKLMD AAELVKQPPD VTENPYRKSG QEASIGKQIL APVEESACQF FFDLNEKQGR
KRSSTGRDSK SSPHPKQPRK PPQPPGPCWF CLASPEVEKH LVVNIGTHCY LALAKGGLSD
DHVLILPIGH YQSVVELSAE VVEEVEKYKA TLRRFFKSRG KWCVVFERNY KSHHLQLQVI
PVPISCSTTD DIKDAFITQA QEQQIELLEI PEHSDIKQIA QPGAAYFYVE LDTGEKLFHR
IKKNFPLQFG REVLASEAIL NVPDKSDWRQ CQISKEDEET LARRFRKDFE PYDFTLDD
