Description
proprotein convertase subtilisin/kexin type 1 [Source:HGNC Symbol;Acc:8743]
Gene Synonyms
BMIQ12, NEC1, PC1, PC3, SPC3
Location
Chromosome 5: 95,726,119-95,769,847 reverse strand.
GRCh37:CM000667.1
About this gene
This gene has 4 transcripts (splice variants), 6 paralogues and is associated with 3 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000311106.3 | PCSK1-001 | 5086 | 753aa | ENSP00000308024.2 | Protein coding | CCDS4081 | D6RJA3 P29120 | NM_001177876.1 | Ensembl Canonical, GENCODE basic, |
ENST00000508626.1 | PCSK1-002 | 2234 | 706aa | ENSP00000421600.1 | Protein coding | CCDS54881 | P29120 | NM_001177875.1 | GENCODE basic, |
ENST00000509190.1 | PCSK1-005 | 565 | 157aa | ENSP00000427294.1 | Protein coding | D6RJA3 | - | CDS 3' incomplete, | |
ENST00000513085.1 | PCSK1-004 | 1481 | No protein | - | Processed transcript | - | - | - |