ZFIN ID: ZDB-GENE-040426-1375
Gene Name: hydroxymethylbilane synthase a
Gene Symbol: hmbsa    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: hmbs, zgc:64128

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 5 Mapping Details/Browsers
Description: Predicted to have hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to localize to cytoplasm. Is expressed in intermediate mesoderm. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase).
Genome Resources: Alliance (1),  Gene:394129 (1),  Ensembl(GRCz11):ENSDARG00000008840 (2)
GENE EXPRESSION
All Expression Data: 3 figures from 2 publications
Wild-type Stages, Structures: Gastrula:75%-epiboly (8.0h-9.0h) to Segmentation:5-9 somites (11.66h-14.0h)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa31452 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH hmbsa HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    acute intermittent porphyria Alliance Porphyria, acute intermittent 176000
    Porphyria, acute intermittent, nonerythroid variant 176000
    DISEASE ASSOCIATED WITH hmbsa VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process peptidyl-pyrromethane cofactor linkage (more)
    Cellular Component cytoplasm (more)
    Molecular Function hydroxymethylbilane synthase activity (more)
    GO Terms (all 5)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA hmbsa-201 (1)    Ensembl 1990
    hmbsa-202 (1)    Ensembl 912
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM hmbsa No data available
    MARKER RELATIONSHIPS
    hmbsa Contained in: [BAC] DKEY-151N15 (1) (order this)
    hmbsa Encodes: [cDNA] MGC:64128 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_201154 (1) 2006 nt
    Genomic GenBank:BX294169 (1) 73230 nt
    Select Tool
    Polypeptide UniProtKB:A0A0R4IQ55 (1) 361 aa
    Sequence Information (all 13)
    ORTHOLOGY for hmbsa ( Chr: 5 )
    CITATIONS (28)