Gene

gphna

ID

ZDB-GENE-110127-3

Name

gephyrin a

Symbol

gphna Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to have molybdopterin adenylyltransferase activity and molybdopterin molybdotransferase activity. Involved in glycine receptor clustering. Predicted to localize to several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Is expressed in head; myotome; rhombomere; spinal cord; and spinal cord interneuron. Orthologous to human GPHN (gephyrin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from Ogino et al., 2011

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gphna Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
molybdenum cofactor deficiency type C	Alliance	Molybdenum cofactor deficiency C	615501

Associated With gphna Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR008284	Molybdenum cofactor biosynthesis, conserved site
Domain	IPR001453	MoaB/Mog domain
Domain	IPR005110	MoeA, N-terminal and linker domain
Domain	IPR005111	MoeA, C-terminal, domain IV
Family	IPR038987	Molybdopterin biosynthesis protein MoeA-like
Homologous_superfamily	IPR036135	MoeA, N-terminal and linker domain superfamily
Homologous_superfamily	IPR036425	MoaB/Mog-like domain superfamily
Homologous_superfamily	IPR036688	MoeA, C-terminal, domain IV superfamily

Domain Details Per Protein

Protein	Length	MoaB/Mog domain	MoaB/Mog-like domain superfamily	MoeA, C-terminal, domain IV	MoeA, C-terminal, domain IV superfamily	MoeA, N-terminal and linker domain	MoeA, N-terminal and linker domain superfamily	Molybdenum cofactor biosynthesis, conserved site	Molybdopterin biosynthesis protein MoeA-like
UniProtKB:A0A8M9P061 InterPro	595
UniProtKB:D3KYL0 InterPro	834
UniProtKB:A0A8M9PE95 InterPro	574
UniProtKB:A0A8M6Z1J0 InterPro	808
UniProtKB:D3KYK9 InterPro	795
UniProtKB:A0A8M9PKR1 InterPro	899
UniProtKB:A0A8M9PKR6 InterPro	860
UniProtKB:A0A8M9P8X5 InterPro	886
UniProtKB:D3KYK7 InterPro	735
UniProtKB:A0A8M9PNS6 InterPro	560
UniProtKB:A0A8M9PNR5 InterPro	906
UniProtKB:A0A8M9PKS3 InterPro	535
UniProtKB:A0A8M9PE84 InterPro	920
UniProtKB:A0A8M9P8Y1 InterPro	581
UniProtKB:A0A0R4INA6 InterPro	868
UniProtKB:A0A8M9PNS0 InterPro	881
UniProtKB:A0A8M9PE88 InterPro	885
UniProtKB:D3KYK8 InterPro	774

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	gphna-201 (1) Ensembl	Ensembl	5,300 nt	Select Tool
mRNA	gphna-202 (1) Ensembl	Ensembl	5,480 nt	Select Tool
mRNA	gphna-203 (1) Ensembl	Ensembl	2,261 nt	Select Tool
mRNA	gphna-204 (1) Ensembl	Ensembl	2,441 nt	Select Tool
mRNA	gphna-205 (1) Ensembl	Ensembl	5,582 nt	Select Tool ZFIN BLAST
mRNA	gphna-206 (1) Ensembl	Ensembl	5,387 nt	Select Tool ZFIN BLAST
mRNA	gphna-207 (1) Ensembl	Ensembl	5,519 nt	Select Tool ZFIN BLAST
mRNA	gphna-208 (1) Ensembl	Ensembl	5,540 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-gphn	monoclonal	gphna gphnb	IgG1	Mouse	IHC WB	BD Biosciences	4

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations