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Q7Z7G8

- VP13B_HUMAN

UniProt

Q7Z7G8 - VP13B_HUMAN

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Protein

Vacuolar protein sorting-associated protein 13B

Gene
VPS13B, CHS1, COH1, KIAA0532
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. protein transport Source: UniProtKB-KW
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
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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.

Family & Domainsi

Sequence similaritiesi

Belongs to the VPS13 family.

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.

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. VSP_009404Add
BLAST
Alternative sequencei416 – 40223607Missing in isoform 5. VSP_009405Add
BLAST
Alternative sequencei839 – 86325GVKSK…KYCST → EIGSCYVAQVDLELLASNDP PTSTS in isoform 4. VSP_009406Add
BLAST
Alternative sequencei864 – 40223159Missing in isoform 4. VSP_009407Add
BLAST
Alternative sequencei977 – 9771Missing in isoform 6. VSP_039837
Alternative sequencei1386 – 143348SLGEE…GFFPS → RPGEGWQSGHFEGVFLQCKE KSV in isoform 2. VSP_009408Add
BLAST
Alternative sequencei1386 – 142742SLGEE…PFSNC → RPGEGWQSGHFEGVFLQCKE KSVPWGRVLVFGAMWRCLPF LY in isoform 3. VSP_009409Add
BLAST
Alternative sequencei1428 – 40222595Missing in isoform 3. VSP_009410Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti401 – 4011F → S in BAA91275. 1 Publication
Sequence conflicti544 – 5441M → V in AAP41102. 1 Publication
Sequence conflicti544 – 5441M → V in AAP41103. 1 Publication
Sequence conflicti544 – 5441M → V in AAP41104. 1 Publication
Sequence conflicti544 – 5441M → V in AAP41105. 1 Publication
Sequence conflicti544 – 5441M → V in BAC03664. 1 Publication
Sequence conflicti618 – 6181D → N in AAP41102. 1 Publication
Sequence conflicti618 – 6181D → N in AAP41103. 1 Publication
Sequence conflicti618 – 6181D → N in AAP41104. 1 Publication
Sequence conflicti618 – 6181D → N in AAP41105. 1 Publication
Sequence conflicti618 – 6181D → N in BAC03664. 1 Publication
Sequence conflicti1387 – 13871L → H in AAP41102. 1 Publication
Sequence conflicti1401 – 14011F → I in AAP41102. 1 Publication
Sequence conflicti1425 – 14251S → R in AAP41102. 1 Publication
Sequence conflicti1673 – 16731A → D in AAP41102. 1 Publication
Sequence conflicti1673 – 16731A → D in AAP41103. 1 Publication

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]
ENST00000395996; ENSP00000379318; ENSG00000132549. [Q7Z7G8-3]
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 ]
ENST00000395996 ; ENSP00000379318 ; ENSG00000132549 . [Q7Z7G8-3 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 99 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

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