Gene

sec61a1b

ID

ZDB-GENE-021016-2

Name

SEC61 translocon subunit alpha 1b

Symbol

sec61a1b Nomenclature History

Previous Names

cb413 (1)
sec61a1l
sec61al2
sec61b
wu:fb36f05
wu:fb36f12
wu:fb37d04
wu:fi26f11

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Predicted to enable protein transmembrane transporter activity; ribosome binding activity; and signal sequence binding activity. Acts upstream of or within pronephros development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of Sec61 translocon complex. Is expressed in several structures, including EVL; anterior axial hypoblast; axis; ectoderm; and mesoderm. Human ortholog(s) of this gene implicated in familial juvenile hyperuricemic nephropathy. Orthologous to human SEC61A1 (SEC61 translocon subunit alpha 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

18 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb413 (17 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Bolar et al., 2016
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sec61a1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Immunodeficiency, common variable, 15	620670
		Tubulointerstitial kidney disease, autosomal dominant, 5	617056
		?Neutropenia, severe congenital, 11, autosomal dominant	620674

Associated With sec61a1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR030659	SecY conserved site
Domain	IPR019561	Translocon Sec61/SecY, plug domain
Family	IPR002208	SecY/SEC61-alpha family
Homologous_superfamily	IPR023201	SecY domain superfamily