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Q7Z7G8 (VP13B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vacuolar protein sorting-associated protein 13B
Alternative name(s):
Cohen syndrome protein 1
Gene names
Name:VPS13B
Synonyms:CHS1, COH1, KIAA0532
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4022 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Tissue specificity

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. Ref.1 Ref.12

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.8 Ref.9 Ref.10 Ref.12

Sequence similarities

Belongs to the VPS13 family.

Sequence caution

The sequence BAC03664.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

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)

Ontologies

Keywords
   Biological processProtein transport
Transport
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Obesity
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein transport

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z7G8-1)

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.
Isoform 2 (identifier: Q7Z7G8-2)

Also known as: 2A;

The sequence of this isoform differs from the canonical sequence as follows:
     1386-1433: SLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPS → RPGEGWQSGHFEGVFLQCKEKSV
Isoform 3 (identifier: Q7Z7G8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1386-1427: SLGEECWSLG...ISKQDPFSNC → RPGEGWQSGH...AMWRCLPFLY
     1428-4022: Missing.
Isoform 4 (identifier: Q7Z7G8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     839-863: GVKSKNPLPTLEGSIQNVELKYCST → EIGSCYVAQVDLELLASNDPPTSTS
     864-4022: Missing.
Isoform 5 (identifier: Q7Z7G8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     403-415: LTEMQVESSYYSP → VGLFSCCLYLYQL
     416-4022: Missing.
Isoform 6 (identifier: Q7Z7G8-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 40224022Vacuolar protein sorting-associated protein 13B
PRO_0000065880

Natural variations

Alternative sequence403 – 41513LTEMQ…SYYSP → VGLFSCCLYLYQL in isoform 5.
VSP_009404
Alternative sequence416 – 40223607Missing in isoform 5.
VSP_009405
Alternative sequence839 – 86325GVKSK…KYCST → EIGSCYVAQVDLELLASNDP PTSTS in isoform 4.
VSP_009406
Alternative sequence864 – 40223159Missing in isoform 4.
VSP_009407
Alternative sequence9771Missing in isoform 6.
VSP_039837
Alternative sequence1386 – 143348SLGEE…GFFPS → RPGEGWQSGHFEGVFLQCKE KSV in isoform 2.
VSP_009408
Alternative sequence1386 – 142742SLGEE…PFSNC → RPGEGWQSGHFEGVFLQCKE KSVPWGRVLVFGAMWRCLPF LY in isoform 3.
VSP_009409
Alternative sequence1428 – 40222595Missing in isoform 3.
VSP_009410
Natural variant8291A → T. Ref.10
Corresponds to variant rs61753721 [ dbSNP | Ensembl ].
VAR_058749
Natural variant8661V → I. Ref.10
VAR_058750
Natural variant11381P → L.
Corresponds to variant rs35342235 [ dbSNP | Ensembl ].
VAR_057750
Natural variant14941Missing in COH1. Ref.12
VAR_058751
Natural variant1739 – 17446Missing in COH1.
VAR_058752
Natural variant19941I → V. Ref.10
Corresponds to variant rs139640224 [ dbSNP | Ensembl ].
VAR_058753
Natural variant21931L → R in COH1; unknown pathological significance. Ref.1
VAR_017759
Natural variant23411Y → C in COH1. Ref.8
VAR_038422
Natural variant24811V → I Found in a patient with mental retardation and facial dysmorphisms. Ref.13
VAR_069429
Natural variant25841V → A.
Corresponds to variant rs7833870 [ dbSNP | Ensembl ].
VAR_057751
Natural variant26451G → D in COH1. Ref.8
VAR_038423
Natural variant27731S → L in COH1. Ref.10
VAR_058754
Natural variant28201I → T in COH1. Ref.9
VAR_058755
Natural variant28221Y → C. Ref.10
VAR_058756
Natural variant29931N → S in COH1. Ref.7
Corresponds to variant rs28940272 [ dbSNP | Ensembl ].
VAR_038424
Natural variant30011L → V in a breast cancer sample; somatic mutation. Ref.11
VAR_036325
Natural variant31421S → R. Ref.10
VAR_058757
Natural variant34321G → R.
Corresponds to variant rs6468694 [ dbSNP | Ensembl ].
VAR_057752

Experimental info

Sequence conflict4011F → S in BAA91275. Ref.3
Sequence conflict5441M → V in AAP41102. Ref.1
Sequence conflict5441M → V in AAP41103. Ref.1
Sequence conflict5441M → V in AAP41104. Ref.1
Sequence conflict5441M → V in AAP41105. Ref.1
Sequence conflict5441M → V in BAC03664. Ref.3
Sequence conflict6181D → N in AAP41102. Ref.1
Sequence conflict6181D → N in AAP41103. Ref.1
Sequence conflict6181D → N in AAP41104. Ref.1
Sequence conflict6181D → N in AAP41105. Ref.1
Sequence conflict6181D → N in BAC03664. Ref.3
Sequence conflict13871L → H in AAP41102. Ref.1
Sequence conflict14011F → I in AAP41102. Ref.1
Sequence conflict14251S → R in AAP41102. Ref.1
Sequence conflict16731A → D in AAP41102. Ref.1
Sequence conflict16731A → D in AAP41103. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (1A) [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: 35B79EE13730AFE3

FASTA4,022448,664
        10         20         30         40         50         60 
MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 

        70         80         90        100        110        120 
HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 

       130        140        150        160        170        180 
KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 

       190        200        210        220        230        240 
VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 

       250        260        270        280        290        300 
TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 

       310        320        330        340        350        360 
TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 

       370        380        390        400        410        420 
DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS 

       430        440        450        460        470        480 
KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF 

       490        500        510        520        530        540 
ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY 

       550        560        570        580        590        600 
LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 

       610        620        630        640        650        660 
ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL 

       670        680        690        700        710        720 
DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ 

       730        740        750        760        770        780 
PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK 

       790        800        810        820        830        840 
RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV 

       850        860        870        880        890        900 
KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD 

       910        920        930        940        950        960 
TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL 

       970        980        990       1000       1010       1020 
YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI GSAPLAKQQS YQASEYASSP 

      1030       1040       1050       1060       1070       1080 
VKTKTVTESR PLSVPVKAML NISESCRSPE ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI 

      1090       1100       1110       1120       1130       1140 
PNDSLPSPST IVSGDIPGTV RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV 

      1150       1160       1170       1180       1190       1200 
IPRPILEEGD AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR 

      1210       1220       1230       1240       1250       1260 
HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP TSPETMAGPV 

      1270       1280       1290       1300       1310       1320 
PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES PFSDSVTLEQ TTSNIGGTSG 

      1330       1340       1350       1360       1370       1380 
RVSLWMQWVL PKITIKLFAP DPENKGTEVC MVSELEDLSA SIDVQDVYTK VKCKIESFNI 

      1390       1400       1410       1420       1430       1440 
DHYRSSLGEE CWSLGQCGGV FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD 

      1450       1460       1470       1480       1490       1500 
GTHQQHGFLS LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD 

      1510       1520       1530       1540       1550       1560 
IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN TSVIRIFIPK 

      1570       1580       1590       1600       1610       1620 
TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV LRKDIYQRAL NLGILRDPGS 

      1630       1640       1650       1660       1670       1680 
EIEDRQYQID LQSINIGTAQ WHQLKPEKES VSGGVVTETE RNSQNPALEW NMASSIRRHQ 

      1690       1700       1710       1720       1730       1740 
ERRAILTPVL TDFSVRITGA PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV 

      1750       1760       1770       1780       1790       1800 
AQVQLLHQLI VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS 

      1810       1820       1830       1840       1850       1860 
VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT YSCMALSKSK 

      1870       1880       1890       1900       1910       1920 
SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL LRSSISFPSG KKIGVLSLES 

      1930       1940       1950       1960       1970       1980 
LHASTRSSAR QALGITIVRQ PGRRGTGDLQ LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF 

      1990       2000       2010       2020       2030       2040 
DAVLKGVASD YKCIDPGKTL PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP 

      2050       2060       2070       2080       2090       2100 
ADVNLDISKP LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY 

      2110       2120       2130       2140       2150       2160 
YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH TSKPCLLASL 

      2170       2180       2190       2200       2210       2220 
SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER SRILIGPCCA TANLEAKWCK 

      2230       2240       2250       2260       2270       2280 
HSGNPGPEQS IPKISIDLRG GLLQVFWGQE HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV 

      2290       2300       2310       2320       2330       2340 
PQMSSPVEKN QTFKSEQSSD DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR 

      2350       2360       2370       2380       2390       2400 
YPEPRVLTLV RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE 

      2410       2420       2430       2440       2450       2460 
SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS TCDPLVTPTA 

      2470       2480       2490       2500       2510       2520 
LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG TAAPQYLQPF VSDRNMPSEL 

      2530       2540       2550       2560       2570       2580 
EYMIVSFREP HMYLRQWNNG SVCQEIQFLA QADCKLLECR NVTMQSVVKP FSIFGQMAVS 

      2590       2600       2610       2620       2630       2640 
SDVVEKLLDC TVIVDSVFVN LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE 

      2650       2660       2670       2680       2690       2700 
TLRFGQVDTD ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR 

      2710       2720       2730       2740       2750       2760 
TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI GQDGQAVVRE 

      2770       2780       2790       2800       2810       2820 
HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL ESKAPEYSIV IQVPSSNSSI 

      2830       2840       2850       2860       2870       2880 
IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE 

      2890       2900       2910       2920       2930       2940 
KPLQNIEPDL VHHLTFQARE EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE 

      2950       2960       2970       2980       2990       3000 
KSLQPIWPYN KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW 

      3010       3020       3030       3040       3050       3060 
LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL TSPKWKDGGN 

      3070       3080       3090       3100       3110       3120 
GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI QIIQIEDKTT IINNTPYQIF 

      3130       3140       3150       3160       3170       3180 
YKPQLSVCNP HSGKEYFRVP DSATFSICPG GEQPAMKSSS LPCWDLMPDI SQSVLDASLL 

      3190       3200       3210       3220       3230       3240 
QKQIMLGFSP APGADSSQCW SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL 

      3250       3260       3270       3280       3290       3300 
GVTYLTLSED PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS 

      3310       3320       3330       3340       3350       3360 
YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY VDVVHQCGTV 

      3370       3380       3390       3400       3410       3420 
FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD DLTHHKASAE LLRLTLDNIF 

      3430       3440       3450       3460       3470       3480 
LCVAPGAGPL PGEEPVAALF ELYCVEICCG DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ 

      3490       3500       3510       3520       3530       3540 
CSKMQSLLIS NKELEEYKEK CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY 

      3550       3560       3570       3580       3590       3600 
IKTLFDTYLP NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH 

      3610       3620       3630       3640       3650       3660 
ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV VGSLDILGSP 

      3670       3680       3690       3700       3710       3720 
ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF VKHISKGTLT SITNLATSLA 

      3730       3740       3750       3760       3770       3780 
RNMDRLSLDE EHYNRQEEWR RQLPESLGEG LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT 

      3790       3800       3810       3820       3830       3840 
SEAQASAGHK AKGVISGVGK GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP 

      3850       3860       3870       3880       3890       3900 
SDLHADQAPN SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV 

      3910       3920       3930       3940       3950       3960 
SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE QQYNRLVDYI 

      3970       3980       3990       4000       4010       4020 
TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH FAQVFLSKFT MVKNKALRKG 


FP 

« Hide

Isoform 2 (2A) [UniParc].

Checksum: 6EC3A1177E48E2C4
Show »

FASTA3,997445,988
Isoform 3 [UniParc].

Checksum: 6893DF0E105FFD2F
Show »

FASTA1,427159,614
Isoform 4 [UniParc].

Checksum: A2FA2A03674406F4
Show »

FASTA86397,404
Isoform 5 [UniParc].

Checksum: D3EB3552F9CC5737
Show »

FASTA41547,210
Isoform 6 [UniParc].

Checksum: A946700FAF21CC1D
Show »

FASTA4,021448,536

References

« Hide 'large scale' references
[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]"Analysis of the human VPS13 gene family."
Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C., Monaco A.P.
Genomics 84:536-549(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Delineation of Cohen syndrome following a large-scale genotype-phenotype screen."
Kolehmainen J., Wilkinson R., Lehesjoki A.-E., Chandler K., Kivitie-Kallio S., Clayton-Smith J., Traeskelin A.-L., Waris L., Saarinen A., Khan J., Gross-Tsur V., Traboulsi E.I., Warburg M., Fryns J.-P., Norio R., Black G.C.M., Manson F.D.C.
Am. J. Hum. Genet. 75:122-127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT COH1 SER-2993.
[8]"Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome."
Hennies H.C., Rauch A., Seifert W., Schumi C., Moser E., Al-Taji E., Tariverdian G., Chrzanowska K.H., Krajewska-Walasek M., Rajab A., Giugliani R., Neumann T.E., Eckl K.M., Karbasiyan M., Reis A., Horn D.
Am. J. Hum. Genet. 75:138-145(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS COH1 CYS-2341 AND ASP-2645.
[9]"Cohen syndrome in the Ohio Amish."
Falk M.J., Feiler H.S., Neilson D.E., Maxwell K., Lee J.V., Segall S.K., Robin N.H., Wilhelmsen K.C., Traeskelin A.-L., Kolehmainen J., Lehesjoki A.-E., Wiznitzer M., Warman M.L.
Am. J. Med. Genet. A 128:23-28(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT COH1 THR-2820.
[10]"Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome."
Seifert W., Holder-Espinasse M., Spranger S., Hoeltzenbein M., Rossier E., Dollfus H., Lacombe D., Verloes A., Chrzanowska K.H., Maegawa G.H.B., Chitayat D., Kotzot D., Huhle D., Meinecke P., Albrecht B., Mathijssen I., Leheup B., Raile K., Hennies H.C., Horn D.
J. Med. Genet. 43:E22-E22(2006) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-3001.
[12]"Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1."
Seifert W., Holder-Espinasse M., Kuehnisch J., Kahrizi K., Tzschach A., Garshasbi M., Najmabadi H., Walter Kuss A., Kress W., Laureys G., Loeys B., Brilstra E., Mancini G.M.S., Dollfus H., Dahan K., Apse K., Hennies H.C., Horn D.
Hum. Mutat. 30:E404-E420(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT COH1 LEU-1494 DEL, TISSUE SPECIFICITY.
[13]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ILE-2481.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS47903.1. [Q7Z7G8-5]
CCDS6280.1. [Q7Z7G8-1]
CCDS6281.1. [Q7Z7G8-2]
CCDS6283.1. [Q7Z7G8-4]
PIRT00070.
RefSeqNP_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]
UniGeneHs.191540.

3D structure databases

ProteinModelPortalQ7Z7G8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127612. 3 interactions.
IntActQ7Z7G8. 2 interactions.

PTM databases

PhosphoSiteQ7Z7G8.

Polymorphism databases

DMDM308153515.

Proteomic databases

MaxQBQ7Z7G8.
PaxDbQ7Z7G8.
PRIDEQ7Z7G8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355155; ENSP00000347281; ENSG00000132549. [Q7Z7G8-4]
ENST00000357162; ENSP00000349685; ENSG00000132549. [Q7Z7G8-2]
ENST00000358544; ENSP00000351346; ENSG00000132549. [Q7Z7G8-1]
ENST00000395996; ENSP00000379318; ENSG00000132549. [Q7Z7G8-3]
ENST00000441350; ENSP00000398472; ENSG00000132549. [Q7Z7G8-5]
ENST00000496144; ENSP00000430900; ENSG00000132549. [Q7Z7G8-3]
GeneID157680.
KEGGhsa:157680.
UCSCuc003yis.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

CTD157680.
GeneCardsGC08P100095.
GeneReviewsVPS13B.
HGNCHGNC:2183. VPS13B.
HPAHPA028146.
HPA043865.
MIM216550. phenotype.
607817. gene.
neXtProtNX_Q7Z7G8.
Orphanet193. Cohen syndrome.
PharmGKBPA26699.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5043.
HOVERGENHBG094148.
InParanoidQ7Z7G8.
OMAVFISKFT.
OrthoDBEOG7HB58H.
PhylomeDBQ7Z7G8.
TreeFamTF323503.

Gene expression databases

ArrayExpressQ7Z7G8.
BgeeQ7Z7G8.
GenevestigatorQ7Z7G8.

Family and domain databases

InterProIPR015412. Autophagy-rel_C.
IPR026854. VPS13A_N.
IPR009543. VPSAP_dom.
[Graphical view]
PfamPF09333. ATG_C. 1 hit.
PF12624. Chorein_N. 1 hit.
PF06650. DUF1162. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSVPS13B. human.
GenomeRNAi157680.
NextBio87507.
PROQ7Z7G8.
SOURCESearch...

Entry information

Entry nameVP13B_HUMAN
AccessionPrimary (citable) accession number: Q7Z7G8
Secondary accession number(s): C9JD30 expand/collapse secondary AC list , Q709C6, Q709C7, Q7Z7G4, Q7Z7G5, Q7Z7G6, Q7Z7G7, Q8NB77, Q9NWV1, Q9Y4E7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM