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 have serine-type endopeptidase activity. Involved in cranial skeletal system development; heart development; and neural crest cell migration. Localizes to 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 (mannan binding lectin serine peptidase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Domain	IPR049883	NOTCH1 EGF-like calcium-binding domain
Family	IPR001314	Peptidase S1A, chymotrypsin family
Family	IPR024175	Peptidase S1A, complement C1r/C1S/mannan-binding
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	NOTCH1 EGF-like calcium-binding domain	Peptidase S1A, chymotrypsin family	Peptidase S1A, complement C1r/C1S/mannan-binding	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:A0A2R8QH04 InterPro	384
UniProtKB:X1WH68 InterPro	740

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	masp1-201 (1) Ensembl	Ensembl	2451 nt	Select Tool ZFIN BLAST
mRNA	masp1-202 (1) Ensembl	Havana	2468 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	masp1-204 (1) Ensembl	Havana	1415 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	masp1-206 (1) Ensembl	Ensembl	3086 nt	Select Tool ZFIN BLAST
ncRNA	masp1-002 (1) Ensembl	Havana	692 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	masp1-003 (1) Ensembl	Havana	686 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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