======= HMBS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HMBS
  * **<color #00a2e8>Official Name</color>**: hydroxymethylbilane synthase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3145|3145]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P08397|P08397]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HMBS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HMBS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609806|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Porphobil deamC|
|Porphobil deam|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peptidyl-pyrromethane cofactor linkage|
|hydroxymethylbilane synthase activity|
|protoporphyrinogen IX biosynthetic process|
|protein-cofactor linkage|
|protoporphyrinogen IX metabolic process|
|heme biosynthetic process|
|porphyrin-containing compound biosynthetic process|
|tetrapyrrole biosynthetic process|
|heme metabolic process|
|peptidyl-cysteine modification|
|porphyrin-containing compound metabolic process|
|pigment biosynthetic process|
|tetrapyrrole metabolic process|
|pigment metabolic process|
|cofactor biosynthetic process|
|cofactor metabolic process|
|peptidyl-amino acid modification|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|organonitrogen compound biosynthetic process|
|cellular nitrogen compound biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp148|SB202190 10μM R03 exp148]]|-2.38|
|[[:results:exp236|GSK2606414 1μM R05 exp236]]|-2.12|
|[[:results:exp152|SGC2043 10μM R03 exp152]]|-1.85|
|[[:results:exp502|Milciclib 2μM R08 exp502]]|1.72|
|[[:results:exp1|5-Fluorouracil 2μM R00 exp1]]|1.74|
|[[:results:exp162|BI-D1870 2μM R04 exp162]]|1.77|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|1.89|
|[[:results:exp134|MS023 2μM R03 exp134]]|2.04|
|[[:results:exp467|CAY10603 0.55μM R08 exp467]]|2.08|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.12|
|[[:results:exp485|GSK626616 14μM R08 exp485]]|2.23|
|[[:results:exp414|Tozasertib 0.1μM R07 exp414]]|2.26|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|2.61|
|[[:results:exp436|Dynasore 7μM R08 exp436]]|3.1|
|[[:results:exp517|Quercetin 20μM R08 exp517]]|3.21|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|3.55|
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|4.05|
|[[:results:exp450|Artemisinin 50μM R08 exp450]]|8.49|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:alad|ALAD]]|0.64|
|[[:human genes:a:alas1|ALAS1]]|0.612|
|[[:human genes:f:fech|FECH]]|0.528|
|[[:human genes:g:glrx5|GLRX5]]|0.502|
|[[:human genes:s:sucla2|SUCLA2]]|0.466|
|[[:human genes:c:cpox|CPOX]]|0.464|
|[[:human genes:p:ppox|PPOX]]|0.46|
|[[:human genes:m:mipep|MIPEP]]|0.441|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 5/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|1/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|1/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 5134
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.24 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HMBS Expression in NALM6 Cells: 5.24'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>