Description

Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:HGNC:17022]

Location

Chromosome 11: 18,278,668-18,322,198 reverse strand.

GRCh38:CM000673.2

About this gene

This gene has 11 transcripts (splice variants), 69 orthologues, 1 paralogue, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HPS5-002ENST0000039625347251015aaENSP00000379552
 
Protein coding
CCDS7837Q9UPZ3 NM_007216
NP_009147
TSL:1GENCODE basic
HPS5-001ENST0000034921544911129aaENSP00000265967
 
Protein coding
CCDS7836Q9UPZ3 NM_181507
NP_852608
TSL:1GENCODE basicAPPRIS P1
HPS5-005ENST0000043842041471015aaENSP00000399590
 
Protein coding
CCDS7837Q9UPZ3 NM_181508
NP_852609
TSL:1GENCODE basic
HPS5-003ENST000005318482160400aaENSP00000431758
 
Protein coding
-G3V159 -TSL:5GENCODE basic
HPS5-007ENST000005372581275263aaENSP00000437437
 
Protein coding
-F5H6Q8 -TSL:5GENCODE basic
HPS5-009ENST00000544218759160aaENSP00000441781
 
Protein coding
-F5GWM5 -CDS 3' incompleteTSL:3
HPS5-006ENST000003524601642No protein-
 
Processed transcript
---TSL:5
HPS5-012ENST00000589545485No protein-
 
Processed transcript
---TSL:3
HPS5-010ENST00000543728320No protein-
 
Processed transcript
---TSL:5
HPS5-008ENST000005455611121No protein-
 
Retained intron
---TSL:2
HPS5-004ENST00000399287711No protein-
 
Retained intron
---TSL:1

Gene-based displays