Description
Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:17022]
Gene Synonyms
AIBP63, KIAA1017
Location
Chromosome 11: 18,300,223-18,343,745 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 11 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000349215.3 | HPS5-001 | 4491 | 1129aa | ENSP00000265967.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7836 | F5GWM5 Q9UPZ3 | NM_181507.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000396253.3 | HPS5-002 | 4717 | 1015aa | ENSP00000379552.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7837 | F5GWM5 Q9UPZ3 | NM_007216.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000438420.2 | HPS5-005 | 4147 | 1015aa | ENSP00000399590.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7837 | F5GWM5 Q9UPZ3 | NM_181508.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000531848.1 | HPS5-003 | 2160 | 400aa | ENSP00000431758.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V159 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000537258.1 | HPS5-007 | 1275 | 263aa | ENSP00000437437.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H6Q8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000544218.1 | HPS5-009 | 759 | 160aa | ENSP00000441781.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWM5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000352460.3 | HPS5-006 | 1642 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000589545.1 | HPS5-012 | 485 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000543728.1 | HPS5-010 | 320 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000545561.1 | HPS5-008 | 1121 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000399287.3 | HPS5-004 | 711 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
