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Gene

p4htmb

ID
ZDB-GENE-110131-7
Name
prolyl 4-hydroxylase, transmembrane b
Symbol
p4htmb Nomenclature History
Previous Names
  • P4H-TM (1)
  • p4htm
  • si:ch211-157b11.10
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to enable procollagen-proline 4-dioxygenase activity. Acts upstream of or within glomerular basement membrane development and pronephric glomerulus development. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including heart; integument; liver; nervous system; and pleuroperitoneal region. Orthologous to human P4HTM (prolyl 4-hydroxylase, transmembrane).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Hyvarinen et al., 2010
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Hyvarinen et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With p4htmb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 618493
Associated With p4htmb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018247 EF-Hand 1, calcium-binding site
Domain IPR002048 EF-hand domain
Domain IPR005123 Oxoglutarate/iron-dependent dioxygenase
Domain IPR006620 Prolyl 4-hydroxylase, alpha subunit
Homologous_superfamily IPR011992 EF-hand domain pair
Domain Details Per Protein
Protein Length EF-Hand 1, calcium-binding site EF-hand domain EF-hand domain pair Oxoglutarate/iron-dependent dioxygenase Prolyl 4-hydroxylase, alpha subunit
UniProtKB:X1WG80 510
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations