Gene

c3b.1

ID

ZDB-GENE-030131-2211

Name

complement component c3b, tandem duplicate 1

Symbol

c3b.1 Nomenclature History

Previous Names

c3.7 (1)
si:dkey-21e7.2
wu:fb99g02

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Description

Predicted to have endopeptidase inhibitor activity. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in several diseases, including complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; sickle cell anemia; and silicosis. Is expressed in brain; gill; liver; pleuroperitoneal region; and post-vent region. Orthologous to human C3 (complement C3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With c3b.1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
age related macular degeneration 9	Alliance	{Macular degeneration, age-related, 9}	611378
complement component 3 deficiency	Alliance	C3 deficiency	613779
		{Hemolytic uremic syndrome, atypical, susceptibility to, 5}	612925

Associated With c3b.1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR047565	Alpha-macroglobulin-like, thiol-ester bond-forming region
Domain	IPR000020	Anaphylatoxin/fibulin
Domain	IPR001134	Netrin domain
Domain	IPR001599	Alpha-2-macroglobulin
Domain	IPR002890	Macroglobulin domain
Domain	IPR009048	Alpha-macroglobulin, receptor-binding
Domain	IPR011625	Alpha-2-macroglobulin, bait region domain
Domain	IPR011626	Alpha-macroglobulin-like, TED domain
Domain	IPR018933	Netrin module, non-TIMP type
Domain	IPR040839	Macroglobulin domain MG4
Domain	IPR041425	Complement C3/4/5, macroglobulin domain MG1
Domain	IPR041555	Macroglobulin domain MG3
Domain	IPR048848	Complement component 3, CUB domain, second segment
Homologous_superfamily	IPR008930	Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
Homologous_superfamily	IPR008993	Tissue inhibitor of metalloproteinases-like, OB-fold
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR014756	Immunoglobulin E-set
Homologous_superfamily	IPR018081	Anaphylatoxin, complement system
Homologous_superfamily	IPR036595	Alpha-macroglobulin, receptor-binding domain superfamily