LOCUS       NP_796125               3993 aa            linear   ROD 28-APR-2025
DEFINITION  intermembrane lipid transfer protein VPS13B [Mus musculus].
ACCESSION   NP_796125 XP_986868 XP_991619
VERSION     NP_796125.2
DBSOURCE    REFSEQ: accession NM_177151.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 3993)
  AUTHORS   Vacca,F., Yalcin,B. and Ansar,M.
  TITLE     Exploring the pathological mechanisms underlying Cohen syndrome
  JOURNAL   Front Neurosci 18, 1431400 (2024)
   PUBMED   39010945
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 3993)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (residues 1 to 3993)
  AUTHORS   Montillot,C., Skutunova,E., Ayushma, Dubied,M., Lahmar,A.,
            Nguyen,S., Peerally,B., Prin,F., Duffourd,Y., Thauvin-Robinet,C.,
            Duplomb,L., Wang,H., Ansar,M., Faivre,L., Navarro,N., Minocha,S.,
            Collins,S.C. and Yalcin,B.
  TITLE     Characterization of Vps13b-mutant mice reveals neuroanatomical and
            behavioral phenotypes with females less affected
  JOURNAL   Neurobiol Dis 185, 106259 (2023)
   PUBMED   37573958
REFERENCE   4  (residues 1 to 3993)
  AUTHORS   Assimopoulos,S., Hammill,C., Fernandes,D.J., Spencer Noakes,T.L.,
            Zhou,Y.Q., Nutter,L.M.J., Ellegood,J., Anagnostou,E., Sled,J.G. and
            Lerch,J.P.
  TITLE     Genetic mouse models of autism spectrum disorder present subtle
            heterogenous cardiac abnormalities
  JOURNAL   Autism Res 15 (7), 1189-1208 (2022)
   PUBMED   35445787
REFERENCE   5  (residues 1 to 3993)
  AUTHORS   Lhussiez,V., Dubus,E., Cesar,Q., Acar,N., Nandrot,E.F.,
            Simonutti,M., Audo,I., Lize,E., Nguyen,S., Geissler,A., Bouchot,A.,
            Ansar,M., Picaud,S., Thauvin-Robinet,C., Olivier-Faivre,L.,
            Duplomb,L. and Da Costa,R.
  TITLE     Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions
            in Lens Homeostasis and Is Modified by Additional Genetic Factors
  JOURNAL   Invest Ophthalmol Vis Sci 61 (11), 18 (2020)
   PUBMED   32915983
REFERENCE   6  (residues 1 to 3993)
  AUTHORS   Da Costa,R., Bordessoules,M., Guilleman,M., Carmignac,V.,
            Lhussiez,V., Courot,H., Bataille,A., Chlemaire,A., Bruno,C.,
            Fauque,P., Thauvin,C., Faivre,L. and Duplomb,L.
  TITLE     Vps13b is required for acrosome biogenesis through functions in
            Golgi dynamic and membrane trafficking
  JOURNAL   Cell Mol Life Sci 77 (3), 511-529 (2020)
   PUBMED   31218450
REFERENCE   7  (residues 1 to 3993)
  AUTHORS   Kim,M.J., Lee,R.U., Oh,J., Choi,J.E., Kim,H., Lee,K., Hwang,S.K.,
            Lee,J.H., Lee,J.A., Kaang,B.K., Lim,C.S. and Lee,Y.S.
  TITLE     Spatial Learning and Motor Deficits in Vacuolar Protein
            Sorting-associated Protein 13b (Vps13b) Mutant Mouse
  JOURNAL   Exp Neurobiol 28 (4), 485-494 (2019)
   PUBMED   31495077
REFERENCE   8  (residues 1 to 3993)
  AUTHORS   Koike,S. and Jahn,R.
  TITLE     SNAREs define targeting specificity of trafficking vesicles by
            combinatorial interaction with tethering factors
  JOURNAL   Nat Commun 10 (1), 1608 (2019)
   PUBMED   30962439
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 3993)
  AUTHORS   Seifert,W., Holder-Espinasse,M., Kuhnisch,J., Kahrizi,K.,
            Tzschach,A., Garshasbi,M., Najmabadi,H., Walter Kuss,A., Kress,W.,
            Laureys,G., Loeys,B., Brilstra,E., Mancini,G.M., Dollfus,H.,
            Dahan,K., Apse,K., Hennies,H.C. and Horn,D.
  TITLE     Expanded mutational spectrum in Cohen syndrome, tissue expression,
            and transcript variants of COH1
  JOURNAL   Hum Mutat 30 (2), E404-E420 (2009)
   PUBMED   19006247
  REMARK    GeneRIF: Analysis of mouse tissues revealed ubiquitous expression
            of Coh1 homologous to human NM_152564 in all examined tissues but
            no prevalent alternative splicing.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC166356.1, AC122241.4, AC121598.3, AC144772.2 and AC157521.2.
            
            On or before Jul 25, 2008 this sequence version replaced
            XP_986868.1, XP_991619.1, NP_796125.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN00849382,
                              SAMN00849384 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            RefSeq Select criteria    :: based on single protein-coding
                                         transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3993
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 14.46 cM"
     Protein         1..3993
                     /product="intermembrane lipid transfer protein VPS13B"
                     /note="vacuolar protein sorting-associated protein 13B;
                     cohen syndrome protein 1 homolog"
                     /calculated_mol_wt=443886
     Region          2..>94
                     /region_name="Chorein_N"
                     /note="N-terminal region of Chorein or VPS13; pfam12624"
                     /db_xref="CDD:463646"
     Region          100..133
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q80TY5.3)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z7G8; propagated from
                     UniProtKB/Swiss-Prot (Q80TY5.3)"
     Site            998
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z7G8; propagated from
                     UniProtKB/Swiss-Prot (Q80TY5.3)"
     Site            1001
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z7G8; propagated from
                     UniProtKB/Swiss-Prot (Q80TY5.3)"
     Site            1032
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z7G8; propagated from
                     UniProtKB/Swiss-Prot (Q80TY5.3)"
     Region          1262..1303
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q80TY5.3)"
     Region          1616..1637
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q80TY5.3)"
     Region          1735..1770
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q80TY5.3)"
     Site            1789
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z7G8; propagated from
                     UniProtKB/Swiss-Prot (Q80TY5.3)"
     Region          2048..2067
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q80TY5.3)"
     Region          <2605..>2685
                     /region_name="SHR-BD"
                     /note="SHR-binding domain of vacuolar-sorting associated
                     protein 13; pfam06650"
                     /db_xref="CDD:461974"
     Region          3557..3703
                     /region_name="VPS13_C"
                     /note="Vacuolar-sorting-associated 13 protein C-terminal;
                     pfam16909"
                     /db_xref="CDD:465310"
     Region          3716..3809
                     /region_name="ATG_C"
                     /note="Autophagy-related protein C terminal domain;
                     pfam09333"
                     /db_xref="CDD:462761"
     Region          3880..3993
                     /region_name="Localizes the protein to the Golgi
                     apparatus. /evidence=ECO:0000250|UniProtKB:Q7Z7G8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q80TY5.3)"
     CDS             1..3993
                     /gene="Vps13b"
                     /gene_synonym="1810042B05Rik; 2310042E16Rik; 4732488H20;
                     C330002D13Rik; Coh1; D230005K13"
                     /coded_by="NM_177151.4:689..12670"
                     /db_xref="CCDS:CCDS49592.1"
                     /db_xref="GeneID:666173"
                     /db_xref="MGI:MGI:1916380"
ORIGIN      
        1 mlesyvtpil msyvnryikn lkpsdlqlsl wggdvvlskl elkldvleqe lklpftflsg
       61 hihelrihvp wtklgsepvv itintmecil klkdgiqddh escgsnstnr staentkssi
      121 kprriqqaap adpdlppgyv qslirrvvnn vnivinnlil kyveddivls vnitsaecyt
      181 vgelwdrafm disatdlvlr kainfsdctv cldkrnasgk iefyqdplly kcsfrtrlhf
      241 tydnlnskmp svikihtlve slklsitdqq lpmfirimql gialyygeig nfkdgetedp
      301 pclskdtlan ltgteeesri dmqypapykg qelysqdyee pqgwvswaws fvpaivsydd
      361 geeddlgtdp asimhqqkaq tlkdpivsvg fyctkatvtf kltemqaens yyspqkvksk
      421 evlcweqegt tiealmmgep ffdcqigfvg cramclkgil gvkdfeehmn rseteacffi
      481 cgenlstkgl tyltnslfdy rspenngtra efildaahhk ethtdiagiq rfgafymdyl
      541 ytvehssgkg ptsqqdfpsg knedlgivqe kstkslvigp ldcrldssav hrvlkmivca
      601 leheyepysr lkpeskdeke tvldpeevss leeyiptrht svtllkctct vfmaefnlld
      661 cllpvimggk nssnvtnatn fqslrplpsi qilvdkinle hsvpmyaeql vhvvsslnqp
      721 sdnllhycyv hcylkvfgfq agltcldhsg syclpapiip sfstalygkl lklpalwtkr
      781 sqtvvtegif elpnltiqat raqtlllqai yqswshignv ssstvnealm nevfpmtgvk
      841 sknplptleg siqnvelkyc stslvkcasg tlgsikicak apgdsgkekl ipllqgpsdt
      901 rdlhsskwln esrkpeslla pdliaftiqv pqymdychhs gavflcsvqg lavnidpily
      961 twviyqpqkr anrhaqqqpv vavplvtsvn rrkedelsig saplgkqqsy qaseyasspi
     1021 ktktvtesrp vsvpvkavlr vheecrsped kmkefiailw navksltlql dvqsccvfip
     1081 ndnlpspsti vsgdipgtvr swyhgqtsip gtlvlclpqi kiisaghkym eplqeipfvi
     1141 prpileegda fpwtislhhf siytllgkqv tlslvepmgc tstlavtsqk llpvgpdgrh
     1201 sfvvclhvdl esleikcsnp qvqliyelad tmskvwskiq krgnlspssv ypetvagpip
     1261 gspvwssvgt appdtstcsp sadigttteg dsvqagddsp fsdsvtleqt tsniggssgr
     1321 vslwmqwvlp katvklfapd lekkgtevcm vseledlsas idvqdvytkv kckvesfsid
     1381 hyqsrpgegw qsghfegvfl qckekpvttt klldgahqqh gflsltytka vtknvrhklt
     1441 srnerrsfyk lseglmdgsp hflheillsa qafdivvcfp llnaiasvfh tklpktqrek
     1501 rkssgqpmrt htltsrnlpl iyintsviri fvpqteetqs tvavnqaake dtmvlkvgsi
     1561 amapqadnpl grsvlrkdiy qkalnlgilr dpgseiedrq yqidlqsini gtaqwdqlkp
     1621 ekgsgsggvp tesernsqnp alewnmassi qrhqerrail tpiltdfsvr itgapaiift
     1681 kiisqenlhm eeilvcghsl evnittnldf flsvaqvqll hqlivanmtg lepstkatei
     1741 skqeqkkvdt fdggtaetss rysgaqdsgi gsdsvkiriv qieqysgasq hriarpshqs
     1801 sivknlnfip fdifitasri slmtyssval pkfklpeqke dgktgrtfln laevdsdvak
     1861 pnqacvsmvt aedplsssts fssgkkvrvl sleslhastr ssarqalgvt vvrqpgrrgt
     1921 gdleldlflh livsqpslll schhrkqrve vsifdamlkg vpsdytctdp gktlpeasdy
     1981 nivwlqtvpg etdsksgipp slvtlhikdf lngpadiyld vskplkanls ftkldqinhf
     2041 lkkikkahss ahsketstps dsilnmdepp vpkcyrgkls ktkvhcdeaq ktsfqeniwr
     2101 aiscfqkvsv httqivvsme tvphphkpcv laslsnlngs ltvkaaqkvp gaslgssfll
     2161 sihdvllkts lkersrilig pfsatvnlea kwckhsgnpg pqqsipkism dlrggllqvf
     2221 wgqehlncla llhelfngyl qegksempvp esapqmpspv ektqafkteq ssddlrtgif
     2281 qyvqdaeslk lpgvyevlfy neteespgmm lwrypeprvl tlvritpvpf nttedpdist
     2341 adlgdvlqvp cgleywdelq kvfvafqefs lseskvcelq lpdinlvhdq kklvssdlwr
     2401 ivlnnnqntt ddqssasesg sqstceplvt ptalaactrv dscftpwfvp slcmsfqfah
     2461 lefrlchhld qlgtaspqyl qpfisdknvp seleymiisf repnlhlrqw nsgpvcqeik
     2521 fssqmdckll ecrnvtmqtv vkpfgicgqm alssdgvqkl ldstvivdsv lvnfgqhvvh
     2581 slntaiqawq qnkcpeveel vfshfvicnd tqetlrfgqv dtdenillas lhshqyswrs
     2641 hkspqllhic iegwgnwrws epftvdhagt firtiqykgr tasliikvra lsgvqkqiii
     2701 cgrqiicsyl sqsielkvvq hyigqdgqav vrehfdclta kqklpsyile nneltelcvk
     2761 akgdedwsrd vclepkasey stviqvptsn ssiiyvwctv ltlepnsqvq qrmivfsplf
     2821 imrshlpdpi iihlekrslg lsetqiipgr gqenplqnve pdlvhhltfq areeydpsdc
     2881 avpistalik qiatkiqpgg tvnemldefy gpeksqeptw pysnkdsdrn eqlsqwdspm
     2941 rvklsiwkpy vrtlliellp wallinqskw dlwlfegeki vlqvpagkii ippnfqeafq
     3001 igiywentnt vhktlaiklv hnltspkwkd ggngevvtld eeafvdaeir lgafpghqkl
     3061 cqfcissmvq hgiqviqied kttvinntpy qivykphlai snsysgkehc hvpdsatfsi
     3121 cpggehpavr ssslpcwdvt pavgsseldt atlqkqillg fspvpgadsa qcwslpaiig
     3181 gefprqsvav pfgtgrengf ctraialtyq ehlgvtyitl sedpsprvvf hnrcpvpmlm
     3241 kenirdipkf dvyckkippe ssvhhelyhq iisypdcktk dllpslflri dsmeemtaew
     3301 sdpvdinsqg tqvvfltgfg yvyvdiaqqc gtvfiilape gkagpiftst sralermvtf
     3361 rmfitqlsla vsddlthqap sellrltldn vflhvspvpa llpgeeppss ffqlygvevy
     3421 cgdlqldnql ynksnfhfav lvcqgertdp aqysrvqsll vsskaleeyk encfiklclt
     3481 vsegkdilld vseftfelkp arlyvedtfv yyiktlfdty lppsrmsghh aqlftgqqvl
     3541 pvqvtqhaka lvnavklrkl liqpvnllis ihaslklyia sdhtplsfsv fergpvftta
     3601 rqlvhalamh yaagalfrag wvvgsleilg spaslvrsig ngisdffrlp yegltrgpga
     3661 fvsgvsrgtt sfvkhiskga ltsitnlats larnmgrlsl deehynrqee wrrqlpeslg
     3721 eglrqglsrl gisllgaiag ivdqpmqnfq ktsetqasag hkakgvisgv gkgimgvftk
     3781 piggaaelvs qtgygilhga glsqlpkqrc qpthlyadqa pnshvkyvwk mlqslgrpev
     3841 hmaldvvlvr gsgqehegcl lltsevlfvv sisedtqqqa fpiteiscaq dtkqnnlltv
     3901 qlkqprvasd veidgarerl seqqfkrlvd yiaktschla pscssmqtcs vvavepppat
     3961 vktyhylvdp hfaqvfiskf tmvknkalrk gfs
//
