Human (GRCh38.p14)
Description

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [Source:HGNC Symbol;Acc:HGNC:15597]

Gene Synonyms

BLOC2S1, SUTAL

Location

Chromosome 3: 149,129,638-149,173,732 forward strand.

GRCh38:CM000665.2

About this gene

This gene has 7 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000296051.7HPS3-20146111004aaENSP00000296051.2
 
Protein coding
CCDS3140Q969F9-1 NM_032383.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000460120.5HPS3-2022745839aaENSP00000418230.1
 
Protein coding
CCDS77836G5E9V4 -GENCODE basicTSL:2
ENST00000460822.1HPS3-2031958266aaENSP00000419824.1
 
Nonsense mediated decay
H7C5G2 -TSL:2CDS 5' incomplete
ENST00000494327.1HPS3-207556No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000462030.5HPS3-2042486No protein-
 
Retained intron
--TSL:2
ENST00000486530.1HPS3-2061894No protein-
 
Retained intron
--TSL:5
ENST00000478525.1HPS3-205601No protein-
 
Retained intron
--TSL:3