Details for: VIPAS39
Associated with
Other Information
Genular Protein ID: 115543701
Symbol: SPE39_HUMAN
Name: Spermatogenesis-defective protein 39 homolog
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 12508121
Title: The DNA sequence and analysis of human chromosome 14.
PubMed ID: 12508121
DOI: 10.1038/nature01348
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: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19109425
Title: SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.
PubMed ID: 19109425
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
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: 21350494
Title: On the endosomal function and gene nomenclature of human SPE-39.
PubMed ID: 21350494
DOI: 10.1038/ng0311-176
PubMed ID: 23918659
Title: Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
PubMed ID: 23918659
DOI: 10.1093/hmg/ddt378
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: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 23901104
Title: Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.
PubMed ID: 23901104
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
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: 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: 493
- Mass: 57005
- Checksum: CF05C38EB922D192
- Sequence:
MNRTKGDEEE YWNSSKFKAF TFDDEDDELS QLKESKRAVN SLRDFVDDDD DDDLERVSWS GEPVGSISWS IRETAGNSGS THEGREQLKS RNSFSSYAQL PKPTSTYSLS SFFRGRTRPG SFQSLSDALS DTPAKSYAPE LGRPKGEYRD YSNDWSPSDT VRRLRKGKVC SLERFRSLQD KLQLLEEAVS MHDGNVITAV LIFLKRTLSK EILFRELEVR QVALRHLIHF LKEIGDQKLL LDLFRFLDRT EELALSHYRE HLNIQDPDKR KEFLKTCVGL PFSAEDSAHI QDHYTLLERQ IIIEANDRHL ESAGQTEIFR KHPRKASILN MPLVTTLFYS CFYHYTEAEG TFSSPVNLKK TFKIPDKQYV LTALAARAKL RAWNDVDALF TTKNWLGYTK KRAPIGFHRV VEILHKNNAP VQILQEYVNL VEDVDTKLNL ATKFKCHDVV IDTYRDLKDR QQLLAYRSKV DKGSAEEEKI DALLSSSQIR WKN
Genular Protein ID: 4113038543
Symbol: B4DMB7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 519
- Mass: 59740
- Checksum: 55D3144BFE2E2EF9
- Sequence:
MTTGLILFFQ SGRPLGAGVR LGLGLRMNRT KGDEEEYWNS SKFKAFTFDD EDDELSQLKE SKRAVNSLRD FVDDDDDDDL ERVSWSGEPV GSISWSIRET AGNSGSTHEG REQLKSRNSF SSYAQLPKPT STYSLSSFFR GRTRPGSFQS LSDALLDTPA KSYAPELGRP KGEYRDYSND WSPSDTVRRL RKGKVCSLER FRSLQDKLQL LEEAVSMHDG NVITAVLIFL KRTLSKEILF RELEVRQVAL RHLIHFLKEI GDQKLPLDLF RFLDRTEELA LSHYREHLNI QNPDKRKEFL KTCVGLPFSA EDSAHIQDHY TLLERQIIIE ANDRHLESAG QTEIFRKHPR KASILNMPLV TTLFYSCFYH YTEAEGIFSS PVNLKKTFKI PDKQYVLTAL AARAKLRAWN DVDALFTTKN WLGYTKKRAP IGFHRVVEIL HKNNAPVQIL QEYVNLVEDV DTKLNLATKF KCHDVVIDTY RDLKDRQQLL AYRSKVDKGS AEEEKIDALL SSSQIRWKN
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.