Human (GRCh38.p14)
Description

hydroxymethylbilane synthase [Source:HGNC Symbol;Acc:HGNC:4982]

Gene Synonyms

PBGD, PORC, UPS

Location

Chromosome 11: 119,084,866-119,093,834 forward strand.

GRCh38:CM000673.2

About this gene

This gene has 36 transcripts (splice variants), 228 orthologues and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000652429.1HMBS-2321505361aaENSP00000498786.1
 
Protein coding
CCDS8409P08397-1 NM_000190.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P3
ENST00000686218.1HMBS-2332173306aaENSP00000509288.1
 
Protein coding
A0A8I5KXV4 -GENCODE basic
ENST00000650101.1HMBS-2301936338aaENSP00000496970.1
 
Protein coding
A0A3B3IRR1 -GENCODE basic
ENST00000537841.5HMBS-2081559344aaENSP00000444730.1
 
Protein coding
CCDS41726P08397-2 -GENCODE basicTSL:5
ENST00000648374.1HMBS-2261477344aaENSP00000497255.1
 
Protein coding
CCDS41726P08397-2 -GENCODE basic
ENST00000542729.5HMBS-2121469304aaENSP00000443058.1
 
Protein coding
CCDS58187P08397-4 -GENCODE basicTSL:2
ENST00000442944.7HMBS-2021448355aaENSP00000392041.3
 
Protein coding
A0A3F2YNY7 -GENCODE basicAPPRIS ALT1TSL:5
ENST00000392841.1HMBS-2011411344aaENSP00000376584.1
 
Protein coding
CCDS41726P08397-2 -GENCODE basicTSL:1
ENST00000544387.5HMBS-2191351321aaENSP00000438424.1
 
Protein coding
CCDS58186P08397-3 -GENCODE basicTSL:2
ENST00000543090.5HMBS-2141347330aaENSP00000445429.1
 
Protein coding
F5H345 -GENCODE basicTSL:5
ENST00000536813.6HMBS-207941228aaENSP00000438726.2
 
Protein coding
F5H0P4 -TSL:3CDS 3' incomplete
ENST00000535253.5HMBS-204755187aaENSP00000442079.1
 
Protein coding
F5GY90 -TSL:4CDS 3' incomplete
ENST00000546302.6HMBS-223707191aaENSP00000445599.1
 
Protein coding
F5H226 -TSL:5CDS 3' incomplete
ENST00000640813.1HMBS-2241283190aaENSP00000491061.1
 
Nonsense mediated decay
A0A1W2PNU5 -TSL:5
ENST00000545621.5HMBS-220128281aaENSP00000444849.1
 
Nonsense mediated decay
F5H4X2 -TSL:1
ENST00000648026.1HMBS-2251180218aaENSP00000498044.1
 
Nonsense mediated decay
A0A3B3IU34 -CDS 5' incomplete
ENST00000542822.5HMBS-21393681aaENSP00000444817.1
 
Nonsense mediated decay
F5H4Y7 -TSL:5
ENST00000535793.5HMBS-20583263aaENSP00000439904.1
 
Nonsense mediated decay
F5H4W5 -TSL:5
ENST00000648488.1HMBS-227690151aaENSP00000498079.1
 
Nonsense mediated decay
A0A3B3IU56 --
ENST00000649868.1HMBS-22952948aaENSP00000497548.1
 
Nonsense mediated decay
A0A3B3IT17 --
ENST00000534956.2HMBS-203580No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000536185.5HMBS-206441No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000691144.1HMBS-2353543No protein-
 
Retained intron
---
ENST00000691249.1HMBS-2362163No protein-
 
Retained intron
---
ENST00000650307.1HMBS-2312130No protein-
 
Retained intron
---
ENST00000546226.5HMBS-2222112No protein-
 
Retained intron
--TSL:2
ENST00000686690.1HMBS-2341908No protein-
 
Retained intron
---
ENST00000543543.5HMBS-2151796No protein-
 
Retained intron
--TSL:5
ENST00000542044.5HMBS-2101544No protein-
 
Retained intron
--TSL:5
ENST00000544182.1HMBS-2171542No protein-
 
Retained intron
--TSL:2
ENST00000649823.1HMBS-2281298No protein-
 
Retained intron
---
ENST00000542345.5HMBS-211882No protein-
 
Retained intron
--TSL:3
ENST00000539045.1HMBS-209845No protein-
 
Retained intron
--TSL:2
ENST00000544360.5HMBS-218695No protein-
 
Retained intron
--TSL:3
ENST00000545901.5HMBS-221581No protein-
 
Retained intron
--TSL:1
ENST00000543821.5HMBS-216562No protein-
 
Retained intron
--TSL:4