Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000396253.3HPS5-00247171015aaENSP00000379552.3
 
Protein coding
CCDS7837F5GWM5 Q9UPZ3 NM_007216.3GENCODE basic
ENST00000349215.3HPS5-00144911129aaENSP00000265967.5
 
Protein coding
CCDS7836F5GWM5 Q9UPZ3 NM_181507.1GENCODE basic
ENST00000438420.2HPS5-00541471015aaENSP00000399590.2
 
Protein coding
CCDS7837F5GWM5 Q9UPZ3 NM_181508.1GENCODE basic
ENST00000531848.1HPS5-0032160400aaENSP00000431758.1
 
Protein coding
G3V159 -GENCODE basic
ENST00000537258.1HPS5-0071275263aaENSP00000437437.1
 
Protein coding
F5H6Q8 -GENCODE basic
ENST00000544218.1HPS5-009759160aaENSP00000441781.1
 
Protein coding
F5GWM5 -CDS 3' incomplete
ENST00000352460.3HPS5-0061642No protein-
 
Processed transcript
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ENST00000589545.1HPS5-012485No protein-
 
Processed transcript
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ENST00000543728.1HPS5-010320No protein-
 
Processed transcript
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ENST00000545561.1HPS5-0081121No protein-
 
Retained intron
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ENST00000399287.3HPS5-004711No protein-
 
Retained intron
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