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Q7Z7G8

- VP13B_HUMAN

UniProt

Q7Z7G8 - VP13B_HUMAN

Protein

Vacuolar protein sorting-associated protein 13B

Gene

VPS13B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 2 (05 Oct 2010)
      Previous versions | rss
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    Functioni

    May be involved in protein sorting in post Golgi membrane traffic.By similarity

    GO - Biological processi

    1. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vacuolar protein sorting-associated protein 13B
    Alternative name(s):
    Cohen syndrome protein 1
    Gene namesi
    Name:VPS13B
    Synonyms:CHS1, COH1, KIAA0532
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:2183. VPS13B.

    Pathology & Biotechi

    Involvement in diseasei

    Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1494 – 14941Missing in COH1. 1 Publication
    VAR_058751
    Natural varianti1739 – 17446Missing in COH1.
    VAR_058752
    Natural varianti2193 – 21931L → R in COH1; unknown pathological significance. 1 Publication
    VAR_017759
    Natural varianti2341 – 23411Y → C in COH1. 1 Publication
    VAR_038422
    Natural varianti2645 – 26451G → D in COH1. 1 Publication
    VAR_038423
    Natural varianti2773 – 27731S → L in COH1. 1 Publication
    VAR_058754
    Natural varianti2820 – 28201I → T in COH1. 1 Publication
    VAR_058755
    Natural varianti2993 – 29931N → S in COH1. 1 Publication
    Corresponds to variant rs28940272 [ dbSNP | Ensembl ].
    VAR_038424

    Keywords - Diseasei

    Disease mutation, Obesity

    Organism-specific databases

    MIMi216550. phenotype.
    Orphaneti193. Cohen syndrome.
    PharmGKBiPA26699.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 40224022Vacuolar protein sorting-associated protein 13BPRO_0000065880Add
    BLAST

    Proteomic databases

    MaxQBiQ7Z7G8.
    PaxDbiQ7Z7G8.
    PRIDEiQ7Z7G8.

    PTM databases

    PhosphoSiteiQ7Z7G8.

    Expressioni

    Tissue specificityi

    Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously.2 Publications

    Gene expression databases

    ArrayExpressiQ7Z7G8.
    BgeeiQ7Z7G8.
    GenevestigatoriQ7Z7G8.

    Organism-specific databases

    HPAiHPA028146.
    HPA043865.

    Interactioni

    Protein-protein interaction databases

    BioGridi127612. 3 interactions.
    IntActiQ7Z7G8. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z7G8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the VPS13 family.Curated

    Phylogenomic databases

    eggNOGiCOG5043.
    HOVERGENiHBG094148.
    InParanoidiQ7Z7G8.
    OMAiVFISKFT.
    OrthoDBiEOG7HB58H.
    PhylomeDBiQ7Z7G8.
    TreeFamiTF323503.

    Family and domain databases

    InterProiIPR015412. Autophagy-rel_C.
    IPR026854. VPS13A_N.
    IPR009543. VPSAP_dom.
    [Graphical view]
    PfamiPF09333. ATG_C. 1 hit.
    PF12624. Chorein_N. 1 hit.
    PF06650. DUF1162. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z7G8-1) [UniParc]FASTAAdd to Basket

    Also known as: 1A

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE     50
    LKLPFTFLSG HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH 100
    ESCGSNSTNR STAESTKSSI KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN 150
    VNIVINNLIL KYVEDDIVLS VNITSAECYT VGELWDRAFM DISATDLVLR 200
    KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF TYENLNSKMP 250
    SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 300
    TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW 350
    SFVPAIVSYD DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT 400
    FKLTEMQVES SYYSPQKVKS KEVLCWEQEG TTVEALMMGE PFFDCQIGFV 450
    GCRAMCLKGI MGVKDFEENM NRSETEACFF ICGDNLSTKG FTYLTNSLFD 500
    YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY LYTMENTSGK 550
    GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 600
    ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC 650
    TISMAEFNLL DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL 700
    EHSVPMYAEQ LVHVVSSLTQ PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS 750
    GSYCLPVPVI PSFSTALYGK LLKLPTCWTK RSQIAITEGI FELPNLTIQA 800
    TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV KSKNPLPTLE 850
    GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD 900
    TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ 950
    GLAVNIDPIL YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI 1000
    GSAPLAKQQS YQASEYASSP VKTKTVTESR PLSVPVKAML NISESCRSPE 1050
    ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI PNDSLPSPST IVSGDIPGTV 1100
    RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV IPRPILEEGD 1150
    AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR 1200
    HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP 1250
    TSPETMAGPV PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES 1300
    PFSDSVTLEQ TTSNIGGTSG RVSLWMQWVL PKITIKLFAP DPENKGTEVC 1350
    MVSELEDLSA SIDVQDVYTK VKCKIESFNI DHYRSSLGEE CWSLGQCGGV 1400
    FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD GTHQQHGFLS 1450
    LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD 1500
    IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN 1550
    TSVIRIFIPK TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV 1600
    LRKDIYQRAL NLGILRDPGS EIEDRQYQID LQSINIGTAQ WHQLKPEKES 1650
    VSGGVVTETE RNSQNPALEW NMASSIRRHQ ERRAILTPVL TDFSVRITGA 1700
    PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV AQVQLLHQLI 1750
    VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS 1800
    VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT 1850
    YSCMALSKSK SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL 1900
    LRSSISFPSG KKIGVLSLES LHASTRSSAR QALGITIVRQ PGRRGTGDLQ 1950
    LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF DAVLKGVASD YKCIDPGKTL 2000
    PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP ADVNLDISKP 2050
    LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY 2100
    YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH 2150
    TSKPCLLASL SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER 2200
    SRILIGPCCA TANLEAKWCK HSGNPGPEQS IPKISIDLRG GLLQVFWGQE 2250
    HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV PQMSSPVEKN QTFKSEQSSD 2300
    DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR YPEPRVLTLV 2350
    RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE 2400
    SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS 2450
    TCDPLVTPTA LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG 2500
    TAAPQYLQPF VSDRNMPSEL EYMIVSFREP HMYLRQWNNG SVCQEIQFLA 2550
    QADCKLLECR NVTMQSVVKP FSIFGQMAVS SDVVEKLLDC TVIVDSVFVN 2600
    LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE TLRFGQVDTD 2650
    ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR 2700
    TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI 2750
    GQDGQAVVRE HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL 2800
    ESKAPEYSIV IQVPSSNSSI IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR 2850
    SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE KPLQNIEPDL VHHLTFQARE 2900
    EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE KSLQPIWPYN 2950
    KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW 3000
    LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL 3050
    TSPKWKDGGN GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI 3100
    QIIQIEDKTT IINNTPYQIF YKPQLSVCNP HSGKEYFRVP DSATFSICPG 3150
    GEQPAMKSSS LPCWDLMPDI SQSVLDASLL QKQIMLGFSP APGADSSQCW 3200
    SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL GVTYLTLSED 3250
    PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS 3300
    YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY 3350
    VDVVHQCGTV FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD 3400
    DLTHHKASAE LLRLTLDNIF LCVAPGAGPL PGEEPVAALF ELYCVEICCG 3450
    DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ CSKMQSLLIS NKELEEYKEK 3500
    CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY IKTLFDTYLP 3550
    NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH 3600
    ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV 3650
    VGSLDILGSP ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF 3700
    VKHISKGTLT SITNLATSLA RNMDRLSLDE EHYNRQEEWR RQLPESLGEG 3750
    LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT SEAQASAGHK AKGVISGVGK 3800
    GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP SDLHADQAPN 3850
    SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV 3900
    SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE 3950
    QQYNRLVDYI TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH 4000
    FAQVFLSKFT MVKNKALRKG FP 4022
    Length:4,022
    Mass (Da):448,664
    Last modified:October 5, 2010 - v2
    Checksum:i35B79EE13730AFE3
    GO
    Isoform 2 (identifier: Q7Z7G8-2) [UniParc]FASTAAdd to Basket

    Also known as: 2A

    The sequence of this isoform differs from the canonical sequence as follows:
         1386-1433: SLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPS → RPGEGWQSGHFEGVFLQCKEKSV

    Show »
    Length:3,997
    Mass (Da):445,988
    Checksum:i6EC3A1177E48E2C4
    GO
    Isoform 3 (identifier: Q7Z7G8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1386-1427: SLGEECWSLG...ISKQDPFSNC → RPGEGWQSGH...AMWRCLPFLY
         1428-4022: Missing.

    Show »
    Length:1,427
    Mass (Da):159,614
    Checksum:i6893DF0E105FFD2F
    GO
    Isoform 4 (identifier: Q7Z7G8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         839-863: GVKSKNPLPTLEGSIQNVELKYCST → EIGSCYVAQVDLELLASNDPPTSTS
         864-4022: Missing.

    Show »
    Length:863
    Mass (Da):97,404
    Checksum:iA2FA2A03674406F4
    GO
    Isoform 5 (identifier: Q7Z7G8-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         403-415: LTEMQVESSYYSP → VGLFSCCLYLYQL
         416-4022: Missing.

    Show »
    Length:415
    Mass (Da):47,210
    Checksum:iD3EB3552F9CC5737
    GO
    Isoform 6 (identifier: Q7Z7G8-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         977-977: Missing.

    Show »
    Length:4,021
    Mass (Da):448,536
    Checksum:iA946700FAF21CC1D
    GO

    Sequence cautioni

    Isoform 5 : The sequence AAP41106.1 differs from that shown. Reason: erroneous termination (Stop codon at position 412)
    Isoform 5 : The sequence BAA91275.1 differs from that shown. Reason: erroneous termination (Stop codon at position 412)
    The sequence BAC03664.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti401 – 4011F → S in BAA91275. (PubMed:14702039)Curated
    Sequence conflicti544 – 5441M → V in AAP41102. (PubMed:12730828)Curated
    Sequence conflicti544 – 5441M → V in AAP41103. (PubMed:12730828)Curated
    Sequence conflicti544 – 5441M → V in AAP41104. (PubMed:12730828)Curated
    Sequence conflicti544 – 5441M → V in AAP41105. (PubMed:12730828)Curated
    Sequence conflicti544 – 5441M → V in BAC03664. (PubMed:14702039)Curated
    Sequence conflicti618 – 6181D → N in AAP41102. (PubMed:12730828)Curated
    Sequence conflicti618 – 6181D → N in AAP41103. (PubMed:12730828)Curated
    Sequence conflicti618 – 6181D → N in AAP41104. (PubMed:12730828)Curated
    Sequence conflicti618 – 6181D → N in AAP41105. (PubMed:12730828)Curated
    Sequence conflicti618 – 6181D → N in BAC03664. (PubMed:14702039)Curated
    Sequence conflicti1387 – 13871L → H in AAP41102. (PubMed:12730828)Curated
    Sequence conflicti1401 – 14011F → I in AAP41102. (PubMed:12730828)Curated
    Sequence conflicti1425 – 14251S → R in AAP41102. (PubMed:12730828)Curated
    Sequence conflicti1673 – 16731A → D in AAP41102. (PubMed:12730828)Curated
    Sequence conflicti1673 – 16731A → D in AAP41103. (PubMed:12730828)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti829 – 8291A → T.1 Publication
    Corresponds to variant rs61753721 [ dbSNP | Ensembl ].
    VAR_058749
    Natural varianti866 – 8661V → I.1 Publication
    VAR_058750
    Natural varianti1138 – 11381P → L.
    Corresponds to variant rs35342235 [ dbSNP | Ensembl ].
    VAR_057750
    Natural varianti1494 – 14941Missing in COH1. 1 Publication
    VAR_058751
    Natural varianti1739 – 17446Missing in COH1.
    VAR_058752
    Natural varianti1994 – 19941I → V.1 Publication
    Corresponds to variant rs139640224 [ dbSNP | Ensembl ].
    VAR_058753
    Natural varianti2193 – 21931L → R in COH1; unknown pathological significance. 1 Publication
    VAR_017759
    Natural varianti2341 – 23411Y → C in COH1. 1 Publication
    VAR_038422
    Natural varianti2481 – 24811V → I Found in a patient with mental retardation and facial dysmorphisms. 1 Publication
    VAR_069429
    Natural varianti2584 – 25841V → A.
    Corresponds to variant rs7833870 [ dbSNP | Ensembl ].
    VAR_057751
    Natural varianti2645 – 26451G → D in COH1. 1 Publication
    VAR_038423
    Natural varianti2773 – 27731S → L in COH1. 1 Publication
    VAR_058754
    Natural varianti2820 – 28201I → T in COH1. 1 Publication
    VAR_058755
    Natural varianti2822 – 28221Y → C.1 Publication
    VAR_058756
    Natural varianti2993 – 29931N → S in COH1. 1 Publication
    Corresponds to variant rs28940272 [ dbSNP | Ensembl ].
    VAR_038424
    Natural varianti3001 – 30011L → V in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036325
    Natural varianti3142 – 31421S → R.1 Publication
    VAR_058757
    Natural varianti3432 – 34321G → R.
    Corresponds to variant rs6468694 [ dbSNP | Ensembl ].
    VAR_057752

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei403 – 41513LTEMQ…SYYSP → VGLFSCCLYLYQL in isoform 5. 2 PublicationsVSP_009404Add
    BLAST
    Alternative sequencei416 – 40223607Missing in isoform 5. 2 PublicationsVSP_009405Add
    BLAST
    Alternative sequencei839 – 86325GVKSK…KYCST → EIGSCYVAQVDLELLASNDP PTSTS in isoform 4. 1 PublicationVSP_009406Add
    BLAST
    Alternative sequencei864 – 40223159Missing in isoform 4. 1 PublicationVSP_009407Add
    BLAST
    Alternative sequencei977 – 9771Missing in isoform 6. 1 PublicationVSP_039837
    Alternative sequencei1386 – 143348SLGEE…GFFPS → RPGEGWQSGHFEGVFLQCKE KSV in isoform 2. 2 PublicationsVSP_009408Add
    BLAST
    Alternative sequencei1386 – 142742SLGEE…PFSNC → RPGEGWQSGHFEGVFLQCKE KSVPWGRVLVFGAMWRCLPF LY in isoform 3. 1 PublicationVSP_009409Add
    BLAST
    Alternative sequencei1428 – 40222595Missing in isoform 3. 1 PublicationVSP_009410Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY223814 mRNA. Translation: AAP41102.1.
    AY223815 mRNA. Translation: AAP41103.1.
    AY223816 mRNA. Translation: AAP41104.1.
    AY223817 mRNA. Translation: AAP41105.1.
    AY223818 mRNA. Translation: AAP41106.1. Sequence problems.
    AJ608772 mRNA. Translation: CAE75584.1.
    AJ608773 mRNA. Translation: CAE75585.1.
    AK091431 mRNA. Translation: BAC03664.1. Different initiation.
    AK000590 mRNA. Translation: BAA91275.1. Sequence problems.
    AC018442 Genomic DNA. No translation available.
    AC023933 Genomic DNA. No translation available.
    AC026827 Genomic DNA. No translation available.
    AC104986 Genomic DNA. No translation available.
    AC105195 Genomic DNA. No translation available.
    AC105328 Genomic DNA. No translation available.
    AC107909 Genomic DNA. No translation available.
    AP004289 Genomic DNA. No translation available.
    AP004290 Genomic DNA. No translation available.
    AB011104 mRNA. Translation: BAA25458.1.
    CCDSiCCDS47903.1. [Q7Z7G8-5]
    CCDS6280.1. [Q7Z7G8-1]
    CCDS6281.1. [Q7Z7G8-2]
    CCDS6283.1. [Q7Z7G8-4]
    PIRiT00070.
    RefSeqiNP_056058.2. NM_015243.2. [Q7Z7G8-4]
    NP_060360.3. NM_017890.4. [Q7Z7G8-1]
    NP_689777.3. NM_152564.4. [Q7Z7G8-2]
    NP_858047.2. NM_181661.2. [Q7Z7G8-5]
    XP_005250857.1. XM_005250800.1. [Q7Z7G8-1]
    XP_005250858.1. XM_005250801.2. [Q7Z7G8-1]
    UniGeneiHs.191540.

    Genome annotation databases

    EnsembliENST00000355155; ENSP00000347281; ENSG00000132549. [Q7Z7G8-4]
    ENST00000357162; ENSP00000349685; ENSG00000132549. [Q7Z7G8-2]
    ENST00000358544; ENSP00000351346; ENSG00000132549. [Q7Z7G8-1]
    ENST00000441350; ENSP00000398472; ENSG00000132549. [Q7Z7G8-5]
    ENST00000496144; ENSP00000430900; ENSG00000132549. [Q7Z7G8-3]
    GeneIDi157680.
    KEGGihsa:157680.
    UCSCiuc003yis.3. human. [Q7Z7G8-5]
    uc003yit.3. human. [Q7Z7G8-4]
    uc003yiu.1. human. [Q7Z7G8-3]
    uc003yiv.4. human. [Q7Z7G8-1]
    uc003yiw.4. human. [Q7Z7G8-2]

    Polymorphism databases

    DMDMi308153515.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY223814 mRNA. Translation: AAP41102.1 .
    AY223815 mRNA. Translation: AAP41103.1 .
    AY223816 mRNA. Translation: AAP41104.1 .
    AY223817 mRNA. Translation: AAP41105.1 .
    AY223818 mRNA. Translation: AAP41106.1 . Sequence problems.
    AJ608772 mRNA. Translation: CAE75584.1 .
    AJ608773 mRNA. Translation: CAE75585.1 .
    AK091431 mRNA. Translation: BAC03664.1 . Different initiation.
    AK000590 mRNA. Translation: BAA91275.1 . Sequence problems.
    AC018442 Genomic DNA. No translation available.
    AC023933 Genomic DNA. No translation available.
    AC026827 Genomic DNA. No translation available.
    AC104986 Genomic DNA. No translation available.
    AC105195 Genomic DNA. No translation available.
    AC105328 Genomic DNA. No translation available.
    AC107909 Genomic DNA. No translation available.
    AP004289 Genomic DNA. No translation available.
    AP004290 Genomic DNA. No translation available.
    AB011104 mRNA. Translation: BAA25458.1 .
    CCDSi CCDS47903.1. [Q7Z7G8-5 ]
    CCDS6280.1. [Q7Z7G8-1 ]
    CCDS6281.1. [Q7Z7G8-2 ]
    CCDS6283.1. [Q7Z7G8-4 ]
    PIRi T00070.
    RefSeqi NP_056058.2. NM_015243.2. [Q7Z7G8-4 ]
    NP_060360.3. NM_017890.4. [Q7Z7G8-1 ]
    NP_689777.3. NM_152564.4. [Q7Z7G8-2 ]
    NP_858047.2. NM_181661.2. [Q7Z7G8-5 ]
    XP_005250857.1. XM_005250800.1. [Q7Z7G8-1 ]
    XP_005250858.1. XM_005250801.2. [Q7Z7G8-1 ]
    UniGenei Hs.191540.

    3D structure databases

    ProteinModelPortali Q7Z7G8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127612. 3 interactions.
    IntActi Q7Z7G8. 2 interactions.

    PTM databases

    PhosphoSitei Q7Z7G8.

    Polymorphism databases

    DMDMi 308153515.

    Proteomic databases

    MaxQBi Q7Z7G8.
    PaxDbi Q7Z7G8.
    PRIDEi Q7Z7G8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355155 ; ENSP00000347281 ; ENSG00000132549 . [Q7Z7G8-4 ]
    ENST00000357162 ; ENSP00000349685 ; ENSG00000132549 . [Q7Z7G8-2 ]
    ENST00000358544 ; ENSP00000351346 ; ENSG00000132549 . [Q7Z7G8-1 ]
    ENST00000441350 ; ENSP00000398472 ; ENSG00000132549 . [Q7Z7G8-5 ]
    ENST00000496144 ; ENSP00000430900 ; ENSG00000132549 . [Q7Z7G8-3 ]
    GeneIDi 157680.
    KEGGi hsa:157680.
    UCSCi uc003yis.3. human. [Q7Z7G8-5 ]
    uc003yit.3. human. [Q7Z7G8-4 ]
    uc003yiu.1. human. [Q7Z7G8-3 ]
    uc003yiv.4. human. [Q7Z7G8-1 ]
    uc003yiw.4. human. [Q7Z7G8-2 ]

    Organism-specific databases

    CTDi 157680.
    GeneCardsi GC08P100095.
    GeneReviewsi VPS13B.
    HGNCi HGNC:2183. VPS13B.
    HPAi HPA028146.
    HPA043865.
    MIMi 216550. phenotype.
    607817. gene.
    neXtProti NX_Q7Z7G8.
    Orphaneti 193. Cohen syndrome.
    PharmGKBi PA26699.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5043.
    HOVERGENi HBG094148.
    InParanoidi Q7Z7G8.
    OMAi VFISKFT.
    OrthoDBi EOG7HB58H.
    PhylomeDBi Q7Z7G8.
    TreeFami TF323503.

    Miscellaneous databases

    ChiTaRSi VPS13B. human.
    GenomeRNAii 157680.
    NextBioi 87507.
    PROi Q7Z7G8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z7G8.
    Bgeei Q7Z7G8.
    Genevestigatori Q7Z7G8.

    Family and domain databases

    InterProi IPR015412. Autophagy-rel_C.
    IPR026854. VPS13A_N.
    IPR009543. VPSAP_dom.
    [Graphical view ]
    Pfami PF09333. ATG_C. 1 hit.
    PF12624. Chorein_N. 1 hit.
    PF06650. DUF1162. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport."
      Kolehmainen J., Black G.C.M., Saarinen A., Chandler K., Clayton-Smith J., Traeskelin A.-L., Perveen R., Kivitie-Kallio S., Norio R., Warburg M., Fryns J.-P., de la Chapelle A., Lehesjoki A.-E.
      Am. J. Hum. Genet. 72:1359-1369(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE SPECIFICITY, VARIANT COH1 ARG-2193.
      Tissue: Lymphoblast.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Lymphoblast.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 518-1522 (ISOFORM 6).
      Tissue: Brain.
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2386-4022.
      Tissue: Brain.
    6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. Cited for: VARIANT COH1 SER-2993.
    8. Cited for: VARIANTS COH1 CYS-2341 AND ASP-2645.
    9. Cited for: VARIANT COH1 THR-2820.
    10. Cited for: VARIANTS COH1 1739-GLU--GLN-1744 DEL AND LEU-2773, VARIANTS THR-829; ILE-866; VAL-1994; CYS-2822 AND ARG-3142.
    11. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-3001.
    12. Cited for: VARIANT COH1 LEU-1494 DEL, TISSUE SPECIFICITY.
    13. Cited for: VARIANT ILE-2481.

    Entry informationi

    Entry nameiVP13B_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z7G8
    Secondary accession number(s): C9JD30
    , Q709C6, Q709C7, Q7Z7G4, Q7Z7G5, Q7Z7G6, Q7Z7G7, Q8NB77, Q9NWV1, Q9Y4E7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 16, 2004
    Last sequence update: October 5, 2010
    Last modified: October 1, 2014
    This is version 100 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3