Gene

sec23a

ID

ZDB-GENE-040426-2823

Name

Sec23 homolog A, coat complex II component

Symbol

sec23a Nomenclature History

Previous Names

cru
crusher
wu:fc10f08
wu:fi15g03
zgc:55534

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to have GTPase activator activity and zinc ion binding activity. Involved in cartilage development; embryonic neurocranium morphogenesis; and pectoral fin morphogenesis. Predicted to localize to several cellular components, including COPII vesicle coat; endoplasmic reticulum exit site; and extrinsic component of membrane. Used to study craniolenticulosutural dysplasia. Human ortholog(s) of this gene implicated in craniolenticulosutural dysplasia. Is expressed in several structures, including cartilage element; hatching gland; notochord; polster; and tail bud. Orthologous to human SEC23A (Sec23 homolog A, COPII coat complex component).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7159902 (19 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sec23a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
craniolenticulosutural dysplasia	Alliance	Craniolenticulosutural dysplasia	607812

Associated With sec23a Via Experimental Models

Human Disease	Fish	Conditions	Citations
craniolenticulosutural dysplasia	sec23a^m299/m299 (AB)	standard conditions	Cox et al., 2017

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR006895	Zinc finger, Sec23/Sec24-type
Domain	IPR006896	Sec23/Sec24, trunk domain
Domain	IPR006900	Sec23/Sec24, helical domain
Domain	IPR007123	Gelsolin-like domain
Domain	IPR012990	Sec23/Sec24 beta-sandwich
Domain	IPR037550	Sec23, C-terminal
Family	IPR037364	Protein transport protein Sec23
Homologous_superfamily	IPR029006	ADF-H/Gelsolin-like domain superfamily
Homologous_superfamily	IPR036174	Zinc finger, Sec23/Sec24-type superfamily
Homologous_superfamily	IPR036175	Sec23/Sec24 helical domain superfamily
Homologous_superfamily	IPR036180	Gelsolin-like domain superfamily
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily