Hydroxymethylbilane synthase (HMBS) Associated conditions: 1. Acute intermittent porphyria
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001425054.1 | NP_001411983.1 | NW_009646203.1 | (106479..107494) | Reference GRCh38.p14 PATCHES | - |
| 2 | REVIEWED | NM_001425065.1 | NP_001411994.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001425063.1 | NP_001411992.1 | NW_009646203.1 | (106479..107494) | Reference GRCh38.p14 PATCHES | - |
| 4 | REVIEWED | NM_001425063.1 | NP_001411992.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001425062.1 | NP_001411991.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001425061.1 | NP_001411990.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001425059.1 | NP_001411988.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001425058.1 | NP_001411987.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001425057.1 | NP_001411986.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001425056.1 | NP_001411985.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_000190.4 | NP_000181.2 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001425054.1 | NP_001411983.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001425053.1 | NP_001411982.1 | NW_009646203.1 | (106479..107494) | Reference GRCh38.p14 PATCHES | - |
| 14 | REVIEWED | NM_001425053.1 | NP_001411982.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 15 | REVIEWED | NM_001425052.1 | NP_001411981.1 | NW_009646203.1 | (106479..107494) | Reference GRCh38.p14 PATCHES | - |
| 16 | REVIEWED | NM_001425052.1 | NP_001411981.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 17 | REVIEWED | NM_001258209.2 | NP_001245138.1 | NW_009646203.1 | (106479..107494) | Reference GRCh38.p14 PATCHES | - |
| 18 | REVIEWED | NM_001258209.2 | NP_001245138.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 19 | REVIEWED | NM_001258208.2 | NP_001245137.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
| 20 | REVIEWED | NM_001024382.2 | NP_001019553.1 | NC_000011.10 | (119084880..119093548) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Hydroxymethylbilane synthase (HMBS) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | enables | hydroxymethylbilane synthase activity | Function | - |
| 2 | Homo sapiens | IDA | enables | hydroxymethylbilane synthase activity | Function | 18004775 18936296 |
| 3 | Homo sapiens | IEA | enables | hydroxymethylbilane synthase activity | Function | - |
| 4 | Homo sapiens | TAS | enables | hydroxymethylbilane synthase activity | Function | 2025226 |
| 5 | Homo sapiens | IPI | enables | protein binding | Function | 32296183 32814053 |
| 6 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 7 | Homo sapiens | IEA | is_active_in | cytosol | Component | - |
| 8 | Homo sapiens | IEA | located_in | cytosol | Component | - |
| 9 | Homo sapiens | ISS | is_active_in | cytosol | Component | - |
| 10 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 11 | Homo sapiens | IEA | involved_in | porphyrin-containing compound biosynthetic process | Process | - |
| 12 | Homo sapiens | IDA | involved_in | protoporphyrinogen IX biosynthetic process | Process | 18004775 |
| 13 | Homo sapiens | IEA | involved_in | protoporphyrinogen IX biosynthetic process | Process | - |
| 14 | Homo sapiens | IBA | involved_in | heme biosynthetic process | Process | - |
| 15 | Homo sapiens | IC | involved_in | heme biosynthetic process | Process | 18004775 |
| 16 | Homo sapiens | IDA | involved_in | heme biosynthetic process | Process | 18936296 |
| 17 | Homo sapiens | IEA | involved_in | heme biosynthetic process | Process | - |
| 18 | Homo sapiens | TAS | involved_in | heme biosynthetic process | Process | - |
| 19 | Homo sapiens | IEA | involved_in | heme A biosynthetic process | Process | - |
| 20 | Homo sapiens | IDA | involved_in | heme B biosynthetic process | Process | 18004775 |
| 21 | Homo sapiens | IEA | involved_in | heme B biosynthetic process | Process | - |
| 22 | Homo sapiens | IEA | enables | transferase activity | Function | - |
| 23 | Homo sapiens | IEA | involved_in | tetrapyrrole biosynthetic process | Process | - |