Description
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) [Source:HGNC Symbol;Acc:4976]
Gene Synonyms
HCS
Location
Chromosome 21: 38,123,189-38,362,536 reverse strand.
GRCh37:CM000683.1
About this gene
This gene has 6 transcripts (splice variants), 213 orthologues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000399120.1 | HLCS-002 | 6466 | 726aa | ENSP00000382071.1 | Protein coding | CCDS13647 | C9JCQ9 C9JD75 P50747 | NM_001242784.1 | Ensembl Canonical, GENCODE Basic, |
| ENST00000336648.4 | HLCS-001 | 6010 | 726aa | ENSP00000338387.3 | Protein coding | CCDS13647 | C9JCQ9 C9JD75 P50747 | NM_001242785.1 | GENCODE Basic, |
| ENST00000448340.1 | HLCS-003 | 780 | 92aa | ENSP00000392923.1 | Protein coding | C9JCQ9 C9JD75 P50747 | - | CDS 3' incomplete, | |
| ENST00000419461.1 | HLCS-005 | 702 | 86aa | ENSP00000396370.1 | Protein coding | C9JCQ9 C9JD75 | - | CDS 3' incomplete, | |
| ENST00000427746.1 | HLCS-004 | 666 | 77aa | ENSP00000396443.1 | Protein coding | C9JCQ9 | - | CDS 3' incomplete, | |
| ENST00000482273.1 | HLCS-006 | 729 | No protein | - | Processed transcript | - | - | - |

