Gene

nfixa

ID

ZDB-GENE-080722-15

Name

nuclear factor I/Xa

Symbol

nfixa Nomenclature History

Previous Names

nfix

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in skeletal muscle fiber development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Marshall-Smith syndrome and Sotos syndrome. Is expressed in central nervous system; muscle; notochord; paraxial mesoderm; and somite. Orthologous to human NFIX (nuclear factor I X).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

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: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nfixa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Marshall-Smith syndrome	Alliance	Marshall-Smith syndrome	602535
Sotos syndrome 2	Alliance	Malan syndrome	614753

Associated With nfixa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR019739	CTF transcription factor/nuclear factor 1, conserved site
Domain	IPR003619	MAD homology 1, Dwarfin-type
Domain	IPR019548	CTF transcription factor/nuclear factor 1, N-terminal
Domain	IPR020604	CTF transcription factor/nuclear factor 1, DNA-binding domain
Family	IPR000647	CTF transcription factor/nuclear factor 1

Domain Details Per Protein

Protein	Length	CTF transcription factor/nuclear factor 1	CTF transcription factor/nuclear factor 1, conserved site	CTF transcription factor/nuclear factor 1, DNA-binding domain	CTF transcription factor/nuclear factor 1, N-terminal	MAD homology 1, Dwarfin-type
UniProtKB:A0A8M9Q7B4 InterPro	224
UniProtKB:A0A8M9QGH8 InterPro	196
UniProtKB:A0A8M9PNC5 InterPro	246
UniProtKB:A0A8M9PNC9 InterPro	202
UniProtKB:A0A8M9Q7B7 InterPro	204
UniProtKB:A0A8M9QGG6 InterPro	245