Gene

gemin5

ID

ZDB-GENE-031112-9

Name

gem (nuclear organelle) associated protein 5

Symbol

gemin5 Nomenclature History

Previous Names

cb926 (1)

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to enable mRNA 3'-UTR binding activity. Acts upstream of or within T cell differentiation and neuromast regeneration. Predicted to be located in ribosome. Predicted to be part of SMN complex. Predicted to be active in nucleus. Is expressed in several structures, including alar plate midbrain region; brain; immature eye; liver; and segmental plate. Used to study cerebellar ataxia. Orthologous to human GEMIN5 (gem nuclear organelle associated protein 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb926 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 7 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gemin5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Alliance	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	619333

Associated With gemin5 Via Experimental Models

Human Disease	Fish	Conditions	Citations
cerebellar ataxia	gemin5^it342/it342	standard conditions	Saida et al., 2021
cerebellar ataxia	gemin5^it343/it343	standard conditions	Saida et al., 2021

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR019775	WD40 repeat, conserved site
Domain	IPR024977	Anaphase-promoting complex subunit 4-like, WD40 domain
Homologous_superfamily	IPR011047	Quinoprotein alcohol dehydrogenase-like superfamily
Homologous_superfamily	IPR015943	WD40/YVTN repeat-like-containing domain superfamily
Repeat	IPR001680	WD40 repeat

Domain Details Per Protein

Protein	Length	Anaphase-promoting complex subunit 4-like, WD40 domain	Quinoprotein alcohol dehydrogenase-like superfamily	WD40 repeat	WD40 repeat, conserved site	WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:E9QH84 InterPro	1440
UniProtKB:A0A8M3AX38 InterPro	1439

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	gemin5-201 (1) Ensembl	Ensembl		4,516 nt	Select Tool ZFIN BLAST
mRNA	gemin5-202 (1) Ensembl	Ensembl		615 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-gemin5	monoclonal	gemin5	IgG2a	Mouse	WB		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations