CLVS2_HUMAN
ID CLVS2_HUMAN Reviewed; 327 AA.
AC Q5SYC1; B3KTG5; B4DHL0; C8UZT4; Q5SYC0;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Clavesin-2;
DE AltName: Full=Retinaldehyde-binding protein 1-like 2;
DE AltName: Full=clathrin vesicle-associated Sec14 protein 2 {ECO:0000303|PubMed:19651769};
GN Name=CLVS2; Synonyms=C6orf212, C6orf213, RLBP1L2;
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 AND 2).
RC TISSUE=Brain;
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 GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [5]
RP FUNCTION, IDENTIFICATION IN COMPLEX WITH CLATHRIN HEAVY CHAIN AND
RP GAMMA-ADAPTIN, SUBCELLULAR LOCATION, AND DOMAIN.
RX PubMed=19651769; DOI=10.1074/jbc.m109.034884;
RA Katoh Y., Ritter B., Gaffry T., Blondeau F., Honing S., McPherson P.S.;
RT "The clavesin family: neuron-specific lipid- and clathrin-binding Sec14
RT proteins regulating lysosomal morphology.";
RL J. Biol. Chem. 284:27646-27654(2009).
CC -!- FUNCTION: Required for normal morphology of late endosomes and/or
CC lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-
CC bisphosphate (PtdIns(3,5)P2). {ECO:0000250,
CC ECO:0000269|PubMed:19651769}.
CC -!- SUBUNIT: Forms a complex with clathrin heavy chain and gamma-adaptin.
CC {ECO:0000269|PubMed:19651769}.
CC -!- INTERACTION:
CC Q5SYC1; Q7Z589-5: EMSY; NbExp=3; IntAct=EBI-12357161, EBI-11989522;
CC Q5SYC1; Q9UKT8: FBXW2; NbExp=3; IntAct=EBI-12357161, EBI-914727;
CC Q5SYC1; Q8NFF5-2: FLAD1; NbExp=3; IntAct=EBI-12357161, EBI-11526128;
CC Q5SYC1; Q13630: GFUS; NbExp=3; IntAct=EBI-12357161, EBI-3910586;
CC Q5SYC1; P21266: GSTM3; NbExp=3; IntAct=EBI-12357161, EBI-350350;
CC Q5SYC1; O43708: GSTZ1; NbExp=3; IntAct=EBI-12357161, EBI-748043;
CC Q5SYC1; P13807: GYS1; NbExp=3; IntAct=EBI-12357161, EBI-740553;
CC Q5SYC1; Q674X7-2: KAZN; NbExp=3; IntAct=EBI-12357161, EBI-12024294;
CC Q5SYC1; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12357161, EBI-16439278;
CC Q5SYC1; P12883: MYH7; NbExp=3; IntAct=EBI-12357161, EBI-519141;
CC Q5SYC1; Q9GZM8: NDEL1; NbExp=3; IntAct=EBI-12357161, EBI-928842;
CC Q5SYC1; P68402: PAFAH1B2; NbExp=3; IntAct=EBI-12357161, EBI-713724;
CC Q5SYC1; Q99447: PCYT2; NbExp=3; IntAct=EBI-12357161, EBI-750317;
CC Q5SYC1; P15259: PGAM2; NbExp=3; IntAct=EBI-12357161, EBI-2511669;
CC Q5SYC1; Q6ICB4: PHETA2; NbExp=3; IntAct=EBI-12357161, EBI-11081747;
CC Q5SYC1; P31151: S100A7; NbExp=3; IntAct=EBI-12357161, EBI-357520;
CC Q5SYC1; Q86SG5: S100A7A; NbExp=3; IntAct=EBI-12357161, EBI-13077820;
CC Q5SYC1; B2RWP4: TACC2; NbExp=3; IntAct=EBI-12357161, EBI-14211313;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane
CC {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic
CC vesicle, clathrin-coated vesicle {ECO:0000250}. Early endosome membrane
CC {ECO:0000269|PubMed:19651769}; Peripheral membrane protein
CC {ECO:0000269|PubMed:19651769}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5SYC1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SYC1-2; Sequence=VSP_027325;
CC -!- DOMAIN: The CRAL-TRIO domain is required for targeting to the membrane
CC and for binding PtdIns(3,5)P2. {ECO:0000269|PubMed:19651769}.
CC -!- MISCELLANEOUS: Binding to PtdIns(3,5)P2 is not required for
CC localization. {ECO:0000250}.
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DR EMBL; AK095527; BAG53077.1; -; mRNA.
DR EMBL; AK295158; BAG58172.1; -; mRNA.
DR EMBL; AL591428; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48161.1; -; Genomic_DNA.
DR EMBL; BC101376; AAI01377.1; -; mRNA.
DR EMBL; BC101377; AAI01378.1; -; mRNA.
DR EMBL; DC324799; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BK006900; DAA06537.1; -; mRNA.
DR CCDS; CCDS34525.1; -. [Q5SYC1-1]
DR RefSeq; NP_001010852.2; NM_001010852.3. [Q5SYC1-1]
DR RefSeq; XP_016865755.1; XM_017010266.1.
DR AlphaFoldDB; Q5SYC1; -.
DR SMR; Q5SYC1; -.
DR BioGRID; 126414; 20.
DR IntAct; Q5SYC1; 18.
DR STRING; 9606.ENSP00000275162; -.
DR iPTMnet; Q5SYC1; -.
DR PhosphoSitePlus; Q5SYC1; -.
DR BioMuta; CLVS2; -.
DR DMDM; 74744054; -.
DR MassIVE; Q5SYC1; -.
DR PaxDb; Q5SYC1; -.
DR PeptideAtlas; Q5SYC1; -.
DR PRIDE; Q5SYC1; -.
DR ProteomicsDB; 64024; -. [Q5SYC1-1]
DR ProteomicsDB; 64025; -. [Q5SYC1-2]
DR Antibodypedia; 46590; 90 antibodies from 19 providers.
DR DNASU; 134829; -.
DR Ensembl; ENST00000275162.10; ENSP00000275162.4; ENSG00000146352.13. [Q5SYC1-1]
DR Ensembl; ENST00000368438.1; ENSP00000357423.1; ENSG00000146352.13. [Q5SYC1-2]
DR GeneID; 134829; -.
DR KEGG; hsa:134829; -.
DR MANE-Select; ENST00000275162.10; ENSP00000275162.4; NM_001010852.4; NP_001010852.2.
DR UCSC; uc003pzi.3; human. [Q5SYC1-1]
DR CTD; 134829; -.
DR DisGeNET; 134829; -.
DR GeneCards; CLVS2; -.
DR HGNC; HGNC:23046; CLVS2.
DR HPA; ENSG00000146352; Tissue enriched (brain).
DR MIM; 616945; gene.
DR neXtProt; NX_Q5SYC1; -.
DR OpenTargets; ENSG00000146352; -.
DR PharmGKB; PA165617885; -.
DR VEuPathDB; HostDB:ENSG00000146352; -.
DR eggNOG; KOG1471; Eukaryota.
DR GeneTree; ENSGT00940000157632; -.
DR HOGENOM; CLU_046597_1_3_1; -.
DR InParanoid; Q5SYC1; -.
DR OMA; TQNYYPE; -.
DR OrthoDB; 872816at2759; -.
DR PhylomeDB; Q5SYC1; -.
DR PathwayCommons; Q5SYC1; -.
DR Reactome; R-HSA-432720; Lysosome Vesicle Biogenesis.
DR SignaLink; Q5SYC1; -.
DR BioGRID-ORCS; 134829; 12 hits in 1064 CRISPR screens.
DR ChiTaRS; CLVS2; human.
DR GenomeRNAi; 134829; -.
DR Pharos; Q5SYC1; Tbio.
DR PRO; PR:Q5SYC1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5SYC1; protein.
DR Bgee; ENSG00000146352; Expressed in cerebellar cortex and 57 other tissues.
DR Genevisible; Q5SYC1; HS.
DR GO; GO:0030136; C:clathrin-coated vesicle; ISS:UniProtKB.
DR GO; GO:0031901; C:early endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005768; C:endosome; IDA:UniProtKB.
DR GO; GO:0005802; C:trans-Golgi network; ISS:UniProtKB.
DR GO; GO:0032588; C:trans-Golgi network membrane; TAS:Reactome.
DR GO; GO:1902936; F:phosphatidylinositol bisphosphate binding; IBA:GO_Central.
DR GO; GO:0080025; F:phosphatidylinositol-3,5-bisphosphate binding; IDA:UniProtKB.
DR GO; GO:0007040; P:lysosome organization; ISS:UniProtKB.
DR CDD; cd00170; SEC14; 1.
DR Gene3D; 3.40.525.10; -; 1.
DR InterPro; IPR028636; Clavesin-2.
DR InterPro; IPR001251; CRAL-TRIO_dom.
DR InterPro; IPR036865; CRAL-TRIO_dom_sf.
DR InterPro; IPR011074; CRAL/TRIO_N_dom.
DR InterPro; IPR036273; CRAL/TRIO_N_dom_sf.
DR PANTHER; PTHR10174:SF73; PTHR10174:SF73; 1.
DR Pfam; PF00650; CRAL_TRIO; 1.
DR Pfam; PF03765; CRAL_TRIO_N; 1.
DR SMART; SM01100; CRAL_TRIO_N; 1.
DR SMART; SM00516; SEC14; 1.
DR SUPFAM; SSF46938; SSF46938; 1.
DR SUPFAM; SSF52087; SSF52087; 1.
DR PROSITE; PS50191; CRAL_TRIO; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Endosome; Golgi apparatus;
KW Lipid-binding; Membrane; Phosphoprotein; Reference proteome.
FT CHAIN 1..327
FT /note="Clavesin-2"
FT /id="PRO_0000297651"
FT DOMAIN 96..257
FT /note="CRAL-TRIO"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00056"
FT REGION 287..327
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 325
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A6JUQ6"
FT VAR_SEQ 1..146
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027325"
SQ SEQUENCE 327 AA; 38000 MW; FF40A5A222A4DB1C CRC64;
MTHLQAGLSP ETLEKARLEL NENPDTLHQD IQEVRDMVIT RPDIGFLRTD DAFILRFLRA
RKFHHFEAFR LLAQYFEYRQ QNLDMFKSFK ATDPGIKQAL KDGFPGGLAN LDHYGRKILV
LFAANWDQSR YTLVDILRAI LLSLEAMIED PELQVNGFVL IIDWSNFTFK QASKLTPSML
RLAIEGLQDS FPARFGGIHF VNQPWYIHAL YTVIRPFLKE KTRKRIFLHG NNLNSLHQLI
HPEILPSEFG GMLPPYDMGT WARTLLDHEY DDDSEYNVDS YSMPVKEVEK ELSPKSMKRS
QSVVDPTVLK RMDKNEEENM QPLLSLD
