Details for: BLOC1S5

Gene ID: 63915

Symbol: BLOC1S5

Ensembl ID: ENSG00000188428

Description: biogenesis of lysosomal organelles complex 1 subunit 5

Associated with

Other Information

Genular Protein ID: 2298870850

Symbol: BL1S5_HUMAN

Name: Protein Muted homolog

UniProtKB Accession Codes:

Q8TDH9 B4DVM2 Q0VDJ6 Q0VDJ7 Q5THS1 Q68D56 Q8N5F9 Q9NU16

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 12 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11912185

Title: The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.

PubMed ID: 11912185

DOI: 10.1093/hmg/11.6.697

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 12191018

Title: Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.

PubMed ID: 12191018

DOI: 10.1034/j.1600-0854.2002.30908.x

PubMed ID: 12019270

Title: BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.

PubMed ID: 12019270

DOI: 10.1074/jbc.m204011200

PubMed ID: 17182842

Title: BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

PubMed ID: 17182842

DOI: 10.1091/mbc.e06-12-1066

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22203680

Title: Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

PubMed ID: 22203680

DOI: 10.1074/jbc.m111.325746

PubMed ID: 32565547

Title: BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

PubMed ID: 32565547

DOI: 10.1038/s41436-020-0867-5

Sequence Information:

  • Length: 187
  • Mass: 21609
  • Checksum: 790D4DE8E97D83D1
  • Sequence:
    • MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR PVIQGETRYF 
VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD SLSQVLQRLQ AANDSVCRLQ 
QREQERKKIH SDHLVASEKQ HMLQWDNFMK EQPNKRAEVD EEHRKAMERL KEQYAEMEKD 
LAKFSTF

Genular Protein ID: 1230044842

Symbol: A0A0A0MTN6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0A0MTN6

Database IDs:

ARBA 3 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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

Sequence Information:

  • Length: 90
  • Mass: 9774
  • Checksum: A09C3DE41A9DAC76
  • Sequence:
    • MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR PVIQGETRYF 
VKEFECKQLM TQSVDSNRGN RNEKRFIVTT

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.