Description
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin [Source:HGNC Symbol;Acc:8549]
Gene Synonyms
BLOS6, HPS9, PA, PALLID, PLDN
Location
Chromosome 15: 45,879,321-45,908,197 forward strand.
GRCh37:CM000677.1
About this gene
This gene has 20 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000220531.3 | BLOC1S6-001 | 4037 | 172aa | ENSP00000220531.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10126 | H3BN73 H3BRA4 Q9UL45 | NM_012388.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000568816.1 | BLOC1S6-004 | 4013 | 75aa | ENSP00000455021.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BRA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000566753.1 | BLOC1S6-002 | 1996 | 85aa | ENSP00000457478.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BU57 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000567461.1 | BLOC1S6-006 | 1052 | 75aa | ENSP00000456152.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BRA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000564765.1 | BLOC1S6-019 | 706 | 46aa | ENSP00000454537.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BMT8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000565323.1 | BLOC1S6-015 | 688 | 177aa | ENSP00000456851.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BRA4 H3BST1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000565409.1 | BLOC1S6-018 | 616 | 75aa | ENSP00000455599.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BRA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000565216.1 | BLOC1S6-012 | 573 | 131aa | ENSP00000456067.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BR42 H3BRA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000569076.1 | BLOC1S6-009 | 557 | 113aa | ENSP00000454803.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BNE3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000562384.1 | BLOC1S6-007 | 494 | 75aa | ENSP00000457077.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 H3BRA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000566801.1 | BLOC1S6-014 | 338 | 21aa | ENSP00000454715.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BN73 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000567523.1 | BLOC1S6-003 | 1839 | 80aa | ENSP00000456624.1 | Nonsense mediated decay | Q9UL45 | - | - | |
ENST00000564310.1 | BLOC1S6-020 | 636 | 57aa | ENSP00000455439.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000568597.1 | BLOC1S6-010 | 592 | 86aa | ENSP00000454638.1 | Nonsense mediated decay | H3BN13 | - | - | |
ENST00000568963.1 | BLOC1S6-008 | 480 | 43aa | ENSP00000454438.1 | Nonsense mediated decay | H3BML5 | - | - | |
ENST00000567740.1 | BLOC1S6-005 | 1051 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000563000.1 | BLOC1S6-013 | 622 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000565727.1 | BLOC1S6-017 | 599 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000563160.1 | BLOC1S6-016 | 581 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000566184.1 | BLOC1S6-011 | 493 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |