Description
hydroxymethylbilane synthase [Source:HGNC Symbol;Acc:4982]
Gene Synonyms
PBG-D, PBGD, PORC, UPS
Location
Chromosome 11: 118,955,576-118,964,259 forward strand.
GRCh37:CM000673.1
View alleles of this gene on alternative sequences
About this gene
This gene has 25 transcripts (splice variants), 1 gene allele and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000278715.3 | HMBS-001 | 1501 | 361aa | ENSP00000278715.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8409 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | NM_000190.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000537841.1 | HMBS-007 | 1559 | 344aa | ENSP00000444730.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS41726 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000442944.2 | HMBS-025 | 1548 | 344aa | ENSP00000392041.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS41726 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000542729.1 | HMBS-002 | 1469 | 304aa | ENSP00000443058.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58187 | B5U9V4 F5GY90 P08397 | NM_001258209.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000392841.1 | HMBS-201 | 1411 | 344aa | ENSP00000376584.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS41726 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | NM_001024382.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000544387.1 | HMBS-003 | 1351 | 321aa | ENSP00000438424.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58186 | B5U9V4 F5GY90 P08397 | NM_001258208.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000543090.1 | HMBS-004 | 1347 | 330aa | ENSP00000445429.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B5U9V4 F5H345 Q0G847 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000539986.1 | HMBS-008 | 1155 | 187aa | ENSP00000440092.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GY90 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000535253.1 | HMBS-010 | 755 | 187aa | ENSP00000442079.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GY90 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000546302.1 | HMBS-015 | 708 | 191aa | ENSP00000445599.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H226 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000536813.1 | HMBS-014 | 507 | 119aa | ENSP00000438726.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H0P4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000545621.1 | HMBS-005 | 1282 | 81aa | ENSP00000444849.1 | Nonsense mediated decay | F5H4X2 | - | - | |
| ENST00000542822.1 | HMBS-012 | 936 | 81aa | ENSP00000444817.1 | Nonsense mediated decay | F5H4Y7 | - | - | |
| ENST00000535793.1 | HMBS-016 | 832 | 63aa | ENSP00000439904.1 | Nonsense mediated decay | F5H4W5 | - | - | |
| ENST00000534956.1 | HMBS-018 | 547 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000536185.1 | HMBS-021 | 441 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546226.1 | HMBS-020 | 2112 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000543543.1 | HMBS-009 | 1796 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000542044.1 | HMBS-006 | 1544 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000544182.1 | HMBS-019 | 1542 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000542345.1 | HMBS-011 | 882 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000539045.1 | HMBS-017 | 845 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000544360.1 | HMBS-024 | 695 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000545901.1 | HMBS-013 | 581 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000543821.1 | HMBS-023 | 562 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
