Gene

masp1

ID
ZDB-GENE-110421-4
Name
MBL associated serine protease 1
Symbol
masp1 Nomenclature History
Previous Names
  • si:dkeyp-75c7.1
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Predicted to enable serine-type endopeptidase activity. Acts upstream of or within cranial skeletal system development; heart development; and neural crest cell migration. Located in cytoplasm. Is expressed in central nervous system; heart; and post-vent region. Human ortholog(s) of this gene implicated in 3MC syndrome 1. Orthologous to human MASP1 (MBL associated serine protease 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With masp1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
3MC syndrome 1 Alliance 3MC syndrome 1 257920
Associated With masp1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR033116 Serine proteases, trypsin family, serine active site
Conserved_site IPR018097 EGF-like calcium-binding, conserved site
Domain IPR000436 Sushi/SCR/CCP domain
Domain IPR000742 EGF-like domain
Domain IPR000859 CUB domain
Domain IPR001254 Serine proteases, trypsin domain
Domain IPR001881 EGF-like calcium-binding domain
Family IPR001314 Peptidase S1A, chymotrypsin family
Homologous_superfamily IPR009003 Peptidase S1, PA clan
Homologous_superfamily IPR035914 Spermadhesin, CUB domain superfamily
Homologous_superfamily IPR035976 Sushi/SCR/CCP superfamily
Homologous_superfamily IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold
Domain Details Per Protein
Protein Length CUB domain EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like domain Peptidase S1A, chymotrypsin family Peptidase S1, PA clan Peptidase S1, PA clan, chymotrypsin-like fold Serine proteases, trypsin domain Serine proteases, trypsin family, serine active site Spermadhesin, CUB domain superfamily Sushi/SCR/CCP domain Sushi/SCR/CCP superfamily
UniProtKB:X1WH68 740
UniProtKB:A0A0K2SV02 740
UniProtKB:E7FDS3 766
UniProtKB:A0A0K2SUZ0 384
UniProtKB:X1WBS4 383
UniProtKB:A0A2R8QH04 384
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