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Protein

Vacuolar protein sorting-associated protein 13B

Gene

VPS13B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:2183. VPS13B.

Pathology & Biotechi

Involvement in diseasei

Cohen syndrome (COH1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:216550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0587511494Missing in COH1. 1 Publication1
Natural variantiVAR_0587521739 – 1744Missing in COH1. 6
Natural variantiVAR_0177592193L → R in COH1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074149dbSNPEnsembl.1
Natural variantiVAR_0384222341Y → C in COH1. 1 PublicationCorresponds to variant rs386834104dbSNPEnsembl.1
Natural variantiVAR_0384232645G → D in COH1. 1 PublicationCorresponds to variant rs120074153dbSNPEnsembl.1
Natural variantiVAR_0587542773S → L in COH1. 1 PublicationCorresponds to variant rs180177370dbSNPEnsembl.1
Natural variantiVAR_0587552820I → T in COH1. 1 PublicationCorresponds to variant rs120074155dbSNPEnsembl.1
Natural variantiVAR_0384242993N → S in COH1. 1 PublicationCorresponds to variant rs28940272dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Obesity

Organism-specific databases

DisGeNETi157680.
MalaCardsiVPS13B.
MIMi216550. phenotype.
OpenTargetsiENSG00000132549.
Orphaneti193. Cohen syndrome.
PharmGKBiPA26699.

Polymorphism and mutation databases

BioMutaiVPS13B.
DMDMi308153515.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000658801 – 4022Vacuolar protein sorting-associated protein 13BAdd BLAST4022

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei414PhosphoserineCombined sources1
Modified residuei999PhosphoserineCombined sources1
Modified residuei1002PhosphoserineCombined sources1
Modified residuei1033PhosphoserineCombined sources1
Modified residuei1815PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7Z7G8.
MaxQBiQ7Z7G8.
PaxDbiQ7Z7G8.
PeptideAtlasiQ7Z7G8.
PRIDEiQ7Z7G8.

PTM databases

iPTMnetiQ7Z7G8.
PhosphoSitePlusiQ7Z7G8.

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

BgeeiENSG00000132549.
ExpressionAtlasiQ7Z7G8. baseline and differential.
GenevisibleiQ7Z7G8. HS.

Organism-specific databases

HPAiHPA028146.
HPA043865.

Interactioni

Protein-protein interaction databases

BioGridi127612. 13 interactors.
IntActiQ7Z7G8. 4 interactors.
STRINGi9606.ENSP00000351346.

Structurei

3D structure databases

ProteinModelPortaliQ7Z7G8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the VPS13 family.Curated

Phylogenomic databases

eggNOGiKOG1809. Eukaryota.
COG5043. LUCA.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG094148.
InParanoidiQ7Z7G8.
KOiK19526.
OMAiVFISKFT.
OrthoDBiEOG091G000Q.
PhylomeDBiQ7Z7G8.
TreeFamiTF323503.

Family and domain databases

InterProiIPR009543. SHR-BD.
IPR031645. VPS13_C.
IPR026854. VPS13_N.
[Graphical view]
PfamiPF12624. Chorein_N. 1 hit.
PF06650. SHR-BD. 1 hit.
PF16909. VPS13_C. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE
60 70 80 90 100
LKLPFTFLSG HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH
110 120 130 140 150
ESCGSNSTNR STAESTKSSI KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN
160 170 180 190 200
VNIVINNLIL KYVEDDIVLS VNITSAECYT VGELWDRAFM DISATDLVLR
210 220 230 240 250
KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF TYENLNSKMP
260 270 280 290 300
SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL
310 320 330 340 350
TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW
360 370 380 390 400
SFVPAIVSYD DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT
410 420 430 440 450
FKLTEMQVES SYYSPQKVKS KEVLCWEQEG TTVEALMMGE PFFDCQIGFV
460 470 480 490 500
GCRAMCLKGI MGVKDFEENM NRSETEACFF ICGDNLSTKG FTYLTNSLFD
510 520 530 540 550
YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY LYTMENTSGK
560 570 580 590 600
GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC
610 620 630 640 650
ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC
660 670 680 690 700
TISMAEFNLL DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL
710 720 730 740 750
EHSVPMYAEQ LVHVVSSLTQ PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS
760 770 780 790 800
GSYCLPVPVI PSFSTALYGK LLKLPTCWTK RSQIAITEGI FELPNLTIQA
810 820 830 840 850
TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV KSKNPLPTLE
860 870 880 890 900
GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD
910 920 930 940 950
TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ
960 970 980 990 1000
GLAVNIDPIL YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI
1010 1020 1030 1040 1050
GSAPLAKQQS YQASEYASSP VKTKTVTESR PLSVPVKAML NISESCRSPE
1060 1070 1080 1090 1100
ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI PNDSLPSPST IVSGDIPGTV
1110 1120 1130 1140 1150
RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV IPRPILEEGD
1160 1170 1180 1190 1200
AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR
1210 1220 1230 1240 1250
HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP
1260 1270 1280 1290 1300
TSPETMAGPV PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES
1310 1320 1330 1340 1350
PFSDSVTLEQ TTSNIGGTSG RVSLWMQWVL PKITIKLFAP DPENKGTEVC
1360 1370 1380 1390 1400
MVSELEDLSA SIDVQDVYTK VKCKIESFNI DHYRSSLGEE CWSLGQCGGV
1410 1420 1430 1440 1450
FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD GTHQQHGFLS
1460 1470 1480 1490 1500
LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD
1510 1520 1530 1540 1550
IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN
1560 1570 1580 1590 1600
TSVIRIFIPK TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV
1610 1620 1630 1640 1650
LRKDIYQRAL NLGILRDPGS EIEDRQYQID LQSINIGTAQ WHQLKPEKES
1660 1670 1680 1690 1700
VSGGVVTETE RNSQNPALEW NMASSIRRHQ ERRAILTPVL TDFSVRITGA
1710 1720 1730 1740 1750
PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV AQVQLLHQLI
1760 1770 1780 1790 1800
VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS
1810 1820 1830 1840 1850
VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT
1860 1870 1880 1890 1900
YSCMALSKSK SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL
1910 1920 1930 1940 1950
LRSSISFPSG KKIGVLSLES LHASTRSSAR QALGITIVRQ PGRRGTGDLQ
1960 1970 1980 1990 2000
LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF DAVLKGVASD YKCIDPGKTL
2010 2020 2030 2040 2050
PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP ADVNLDISKP
2060 2070 2080 2090 2100
LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY
2110 2120 2130 2140 2150
YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH
2160 2170 2180 2190 2200
TSKPCLLASL SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER
2210 2220 2230 2240 2250
SRILIGPCCA TANLEAKWCK HSGNPGPEQS IPKISIDLRG GLLQVFWGQE
2260 2270 2280 2290 2300
HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV PQMSSPVEKN QTFKSEQSSD
2310 2320 2330 2340 2350
DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR YPEPRVLTLV
2360 2370 2380 2390 2400
RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE
2410 2420 2430 2440 2450
SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS
2460 2470 2480 2490 2500
TCDPLVTPTA LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG
2510 2520 2530 2540 2550
TAAPQYLQPF VSDRNMPSEL EYMIVSFREP HMYLRQWNNG SVCQEIQFLA
2560 2570 2580 2590 2600
QADCKLLECR NVTMQSVVKP FSIFGQMAVS SDVVEKLLDC TVIVDSVFVN
2610 2620 2630 2640 2650
LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE TLRFGQVDTD
2660 2670 2680 2690 2700
ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR
2710 2720 2730 2740 2750
TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI
2760 2770 2780 2790 2800
GQDGQAVVRE HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL
2810 2820 2830 2840 2850
ESKAPEYSIV IQVPSSNSSI IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR
2860 2870 2880 2890 2900
SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE KPLQNIEPDL VHHLTFQARE
2910 2920 2930 2940 2950
EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE KSLQPIWPYN
2960 2970 2980 2990 3000
KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW
3010 3020 3030 3040 3050
LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL
3060 3070 3080 3090 3100
TSPKWKDGGN GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI
3110 3120 3130 3140 3150
QIIQIEDKTT IINNTPYQIF YKPQLSVCNP HSGKEYFRVP DSATFSICPG
3160 3170 3180 3190 3200
GEQPAMKSSS LPCWDLMPDI SQSVLDASLL QKQIMLGFSP APGADSSQCW
3210 3220 3230 3240 3250
SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL GVTYLTLSED
3260 3270 3280 3290 3300
PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS
3310 3320 3330 3340 3350
YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY
3360 3370 3380 3390 3400
VDVVHQCGTV FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD
3410 3420 3430 3440 3450
DLTHHKASAE LLRLTLDNIF LCVAPGAGPL PGEEPVAALF ELYCVEICCG
3460 3470 3480 3490 3500
DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ CSKMQSLLIS NKELEEYKEK
3510 3520 3530 3540 3550
CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY IKTLFDTYLP
3560 3570 3580 3590 3600
NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH
3610 3620 3630 3640 3650
ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV
3660 3670 3680 3690 3700
VGSLDILGSP ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF
3710 3720 3730 3740 3750
VKHISKGTLT SITNLATSLA RNMDRLSLDE EHYNRQEEWR RQLPESLGEG
3760 3770 3780 3790 3800
LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT SEAQASAGHK AKGVISGVGK
3810 3820 3830 3840 3850
GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP SDLHADQAPN
3860 3870 3880 3890 3900
SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV
3910 3920 3930 3940 3950
SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE
3960 3970 3980 3990 4000
QQYNRLVDYI TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH
4010 4020
FAQVFLSKFT MVKNKALRKG FP
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 differs from that shown. erroneous termination (Stop codon at position 412)Curated
Isoform 5 : The sequence BAA91275 differs from that shown. erroneous termination (Stop codon at position 412)Curated
The sequence BAC03664 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti401F → S in BAA91275 (PubMed:14702039).Curated1
Sequence conflicti544M → V in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti544M → V in AAP41103 (PubMed:12730828).Curated1
Sequence conflicti544M → V in AAP41104 (PubMed:12730828).Curated1
Sequence conflicti544M → V in AAP41105 (PubMed:12730828).Curated1
Sequence conflicti544M → V in BAC03664 (PubMed:14702039).Curated1
Sequence conflicti618D → N in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti618D → N in AAP41103 (PubMed:12730828).Curated1
Sequence conflicti618D → N in AAP41104 (PubMed:12730828).Curated1
Sequence conflicti618D → N in AAP41105 (PubMed:12730828).Curated1
Sequence conflicti618D → N in BAC03664 (PubMed:14702039).Curated1
Sequence conflicti1387L → H in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1401F → I in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1425S → R in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1673A → D in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1673A → D in AAP41103 (PubMed:12730828).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058749829A → T.1 PublicationCorresponds to variant rs61753721dbSNPEnsembl.1
Natural variantiVAR_058750866V → I.1 PublicationCorresponds to variant rs150185067dbSNPEnsembl.1
Natural variantiVAR_0577501138P → L.Corresponds to variant rs35342235dbSNPEnsembl.1
Natural variantiVAR_0587511494Missing in COH1. 1 Publication1
Natural variantiVAR_0587521739 – 1744Missing in COH1. 6
Natural variantiVAR_0587531994I → V.1 PublicationCorresponds to variant rs139640224dbSNPEnsembl.1
Natural variantiVAR_0177592193L → R in COH1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074149dbSNPEnsembl.1
Natural variantiVAR_0384222341Y → C in COH1. 1 PublicationCorresponds to variant rs386834104dbSNPEnsembl.1
Natural variantiVAR_0694292481V → I Found in a patient with mental retardation and facial dysmorphisms. 1 PublicationCorresponds to variant rs201963516dbSNPEnsembl.1
Natural variantiVAR_0577512584V → A.Corresponds to variant rs7833870dbSNPEnsembl.1
Natural variantiVAR_0384232645G → D in COH1. 1 PublicationCorresponds to variant rs120074153dbSNPEnsembl.1
Natural variantiVAR_0587542773S → L in COH1. 1 PublicationCorresponds to variant rs180177370dbSNPEnsembl.1
Natural variantiVAR_0587552820I → T in COH1. 1 PublicationCorresponds to variant rs120074155dbSNPEnsembl.1
Natural variantiVAR_0587562822Y → C.1 PublicationCorresponds to variant rs371325199dbSNPEnsembl.1
Natural variantiVAR_0384242993N → S in COH1. 1 PublicationCorresponds to variant rs28940272dbSNPEnsembl.1
Natural variantiVAR_0363253001L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0587573142S → R.1 Publication1
Natural variantiVAR_0577523432G → R.Corresponds to variant rs6468694dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009404403 – 415LTEMQ…SYYSP → VGLFSCCLYLYQL in isoform 5. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_009405416 – 4022Missing in isoform 5. 2 PublicationsAdd BLAST3607
Alternative sequenceiVSP_009406839 – 863GVKSK…KYCST → EIGSCYVAQVDLELLASNDP PTSTS in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_009407864 – 4022Missing in isoform 4. 1 PublicationAdd BLAST3159
Alternative sequenceiVSP_039837977Missing in isoform 6. 1 Publication1
Alternative sequenceiVSP_0094081386 – 1433SLGEE…GFFPS → RPGEGWQSGHFEGVFLQCKE KSV in isoform 2. 2 PublicationsAdd BLAST48
Alternative sequenceiVSP_0094091386 – 1427SLGEE…PFSNC → RPGEGWQSGHFEGVFLQCKE KSVPWGRVLVFGAMWRCLPF LY in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0094101428 – 4022Missing in isoform 3. 1 PublicationAdd BLAST2595

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005250800.3. [Q7Z7G8-1]
XP_005250858.1. XM_005250801.4. [Q7Z7G8-1]
XP_011515150.1. XM_011516848.2. [Q7Z7G8-6]
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.4. human. [Q7Z7G8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005250800.3. [Q7Z7G8-1]
XP_005250858.1. XM_005250801.4. [Q7Z7G8-1]
XP_011515150.1. XM_011516848.2. [Q7Z7G8-6]
UniGeneiHs.191540.

3D structure databases

ProteinModelPortaliQ7Z7G8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127612. 13 interactors.
IntActiQ7Z7G8. 4 interactors.
STRINGi9606.ENSP00000351346.

PTM databases

iPTMnetiQ7Z7G8.
PhosphoSitePlusiQ7Z7G8.

Polymorphism and mutation databases

BioMutaiVPS13B.
DMDMi308153515.

Proteomic databases

EPDiQ7Z7G8.
MaxQBiQ7Z7G8.
PaxDbiQ7Z7G8.
PeptideAtlasiQ7Z7G8.
PRIDEiQ7Z7G8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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.4. human. [Q7Z7G8-1]

Organism-specific databases

CTDi157680.
DisGeNETi157680.
GeneCardsiVPS13B.
GeneReviewsiVPS13B.
HGNCiHGNC:2183. VPS13B.
HPAiHPA028146.
HPA043865.
MalaCardsiVPS13B.
MIMi216550. phenotype.
607817. gene.
neXtProtiNX_Q7Z7G8.
OpenTargetsiENSG00000132549.
Orphaneti193. Cohen syndrome.
PharmGKBiPA26699.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1809. Eukaryota.
COG5043. LUCA.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG094148.
InParanoidiQ7Z7G8.
KOiK19526.
OMAiVFISKFT.
OrthoDBiEOG091G000Q.
PhylomeDBiQ7Z7G8.
TreeFamiTF323503.

Miscellaneous databases

ChiTaRSiVPS13B. human.
GenomeRNAii157680.
PROiQ7Z7G8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132549.
ExpressionAtlasiQ7Z7G8. baseline and differential.
GenevisibleiQ7Z7G8. HS.

Family and domain databases

InterProiIPR009543. SHR-BD.
IPR031645. VPS13_C.
IPR026854. VPS13_N.
[Graphical view]
PfamiPF12624. Chorein_N. 1 hit.
PF06650. SHR-BD. 1 hit.
PF16909. VPS13_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 117 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.