Details for: VPS33B
Associated with
Other Information
Genular Protein ID: 1094132622
Symbol: VP33B_HUMAN
Name: Vacuolar protein sorting-associated protein 33B
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10894945
Title: Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.
PubMed ID: 10894945
DOI: 10.1159/000015571
PubMed ID: 11250079
Title: Molecular cloning and characterization of human VPS18, VPS11, VPS16, and VPS33.
PubMed ID: 11250079
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 18474358
Title: Mycobacterium tuberculosis virulence is mediated by PtpA dephosphorylation of human vacuolar protein sorting 33B.
PubMed ID: 18474358
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 19109425
Title: SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.
PubMed ID: 19109425
PubMed ID: 20190753
Title: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
PubMed ID: 20190753
DOI: 10.1038/ng.538
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21411634
Title: Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells.
PubMed ID: 21411634
PubMed ID: 22753090
Title: Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
PubMed ID: 22753090
DOI: 10.1002/humu.22155
PubMed ID: 23918659
Title: Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
PubMed ID: 23918659
DOI: 10.1093/hmg/ddt378
PubMed ID: 23901104
Title: Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.
PubMed ID: 23901104
PubMed ID: 15052268
Title: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
PubMed ID: 15052268
DOI: 10.1038/ng1325
PubMed ID: 18853461
Title: Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
PubMed ID: 18853461
DOI: 10.1002/humu.20900
PubMed ID: 28017832
Title: Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
PubMed ID: 28017832
PubMed ID: 30561130
Title: Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
PubMed ID: 30561130
DOI: 10.1002/ajmg.a.40634
PubMed ID: 31479177
Title: Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
PubMed ID: 31479177
DOI: 10.1002/humu.23770
Sequence Information:
- Length: 617
- Mass: 70585
- Checksum: BD7DB97E1FEB1D32
- Sequence:
MAFPHRPDAP ELPDFSMLKR LARDQLIYLL EQLPGKKDLF IEADLMSPLD RIANVSILKQ HEVDKLYKVE NKPALSSNEQ LCFLVRPRIK NMRYIASLVN ADKLAGRTRK YKVIFSPQKF YACEMVLEEE GIYGDVSCDE WAFSLLPLDV DLLSMELPEF FRDYFLEGDQ RWINTVAQAL HLLSTLYGPF PNCYGIGRCA KMAYELWRNL EEEEDGETKG RRPEIGHIFL LDRDVDFVTA LCSQVVYEGL VDDTFRIKCG SVDFGPEVTS SDKSLKVLLN AEDKVFNEIR NEHFSNVFGF LSQKARNLQA QYDRRRGMDI KQMKNFVSQE LKGLKQEHRL LSLHIGACES IMKKKTKQDF QELIKTEHAL LEGFNIREST SYIEEHIDRQ VSPIESLRLM CLLSITENGL IPKDYRSLKT QYLQSYGPEH LLTFSNLRRA GLLTEQAPGD TLTAVESKVS KLVTDKAAGK ITDAFSSLAK RSNFRAISKK LNLIPRVDGE YDLKVPRDMA YVFGGAYVPL SCRIIEQVLE RRSWQGLDEV VRLLNCSDFA FTDMTKEDKA SSESLRLILV VFLGGCTFSE ISALRFLGRE KGYRFIFLTT AVTNSARLME AMSEVKA
Genular Protein ID: 3927237187
Symbol: F5H008_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
Sequence Information:
- Length: 590
- Mass: 67606
- Checksum: 929FDF9128B3FD5C
- Sequence:
MAFPHRPDAP ELPDFSMLKR LARDQLIYLL EQQHEVDKLY KVENKPALSS NEQLCFLVRP RIKNMRYIAS LVNADKLAGR TRKYKVIFSP QKFYACEMVL EEEGIYGDVS CDEWAFSLLP LDVDLLSMEL PEFFRDYFLE GDQRWINTVA QALHLLSTLY GPFPNCYGIG RCAKMAYELW RNLEEEEDGE TKGRRPEIGH IFLLDRDVDF VTALCSQVVY EGLVDDTFRI KCGSVDFGPE VTSSDKSLKV LLNAEDKVFN EIRNEHFSNV FGFLSQKARN LQAQYDRRRG MDIKQMKNFV SQELKGLKQE HRLLSLHIGA CESIMKKKTK QDFQELIKTE HALLEGFNIR ESTSYIEEHI DRQVSPIESL RLMCLLSITE NGLIPKDYRS LKTQYLQSYG PEHLLTFSNL RRAGLLTEQA PGDTLTAVES KVSKLVTDKA AGKITDAFSS LAKRSNFRAI SKKLNLIPRV DGEYDLKVPR DMAYVFGGAY VPLSCRIIEQ VLERRSWQGL DEVVRLLNCS DFAFTDMTKE DKASSESLRL ILVVFLGGCT FSEISALRFL GREKGYRFIF LTTAVTNSAR LMEAMSEVKA
Genular Protein ID: 319155589
Symbol: B7Z1N4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 590
- Mass: 67636
- Checksum: 938B8ED43CF2F940
- Sequence:
MAFPHRPDAP ELPDFSMLKR LARDQLIYLL EQQHEVDKLY KVENKPALSS NEQLCFLVRP RIKNMRYIAS LVNADKLAGR TRKYKVIFSP QKFYACEMVL EEEGIYGDVS CDEWAFSLLP LDVDLLSMEL PEFFRDYFLE GDQRWINTVA QALHLLSTLY GPFPNCYGIG RCAKMAYELW RNLEEEEDGE TKGRRPEIGH IFLLDRDVDF VTALCSQVVY EGLVDDTFRI KCGSVDFGPE VTSSDKSLKV LLNAEDKVFN EIRNEHFSNV FGFLSQKARN LQAQYDRRRG MDIKQMKNFV SQELKGLKQE HRLLSLHIGA CESIMKKKTK QDFQELIKTE HALLEGFNIR ESTSYIEEHI DRQVSPIESL RLMCLLSITE NGLIPKDYRS LKTQYLQSYG PEHLLTFSNL RRAGLLTEQA PGDTLTAVES KVSKLVTDKA AGKITDAFSS LAKRSNFRAI SKKLNLIPRV DGEYDLKVPR DMAYVFSGAY VPLSCRIIEQ VLERRSWQGL DEVVRLLNCS DFAFTDMTKE DKASSESLRL ILVVFLGGCT FSEISALRFL GREKGYRFIF LTTAVTNSAR LMEAMSEVKA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.