Gene

macf1a

ID

ZDB-GENE-030131-3606

Name

microtubule actin crosslinking factor 1a

Symbol

macf1a Nomenclature History

Previous Names

acf7a (1)
macf1
fc46g01
magellan (1)
mgn (1)
si:rp71-45k5.7
wu:fc46g01

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to have structural molecule activity. Involved in oocyte animal/vegetal axis specification and organelle disassembly. Localizes to cell cortex and mitochondrial cloud. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in lissencephaly. Is expressed in hair cell anterior macula; inner ear; macula; oocyte stage I; and posterior crista. Orthologous to human MACF1 (microtubule actin crosslinking factor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 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

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 13 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With macf1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
lissencephaly 9 with complex brainstem malformation	Alliance	Lissencephaly 9 with complex brainstem malformation	618325

Associated With macf1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR018247	EF-Hand 1, calcium-binding site
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001452	SH3 domain
Domain	IPR001715	Calponin homology domain
Domain	IPR002048	EF-hand domain
Domain	IPR003108	GAR domain
Domain	IPR041573	Desmoplakin, spectrin-like domain
Domain	IPR041615	Desmoplakin, SH3 domain
Family	IPR043197	Plakin
Homologous_superfamily	IPR011992	EF-hand domain pair
Homologous_superfamily	IPR035915	Plakin repeat superfamily
Homologous_superfamily	IPR036534	GAR domain superfamily
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR001101	Plectin repeat
Repeat	IPR002017	Spectrin repeat
Repeat	IPR018159	Spectrin/alpha-actinin
Repeat	IPR049538	Plectin-like, spectrin-like repeat

Domain Details Per Protein

Protein	Length	Actinin-type actin-binding domain, conserved site	Calponin homology domain	CH domain superfamily	Desmoplakin, SH3 domain	Desmoplakin, spectrin-like domain	EF-Hand 1, calcium-binding site	EF-hand domain	EF-hand domain pair	GAR domain	GAR domain superfamily	Plakin	Plakin repeat superfamily	Plectin-like, spectrin-like repeat	Plectin repeat	SH3 domain	Spectrin/alpha-actinin	Spectrin repeat
UniProtKB:A0A8M3ASP2 InterPro	8221
UniProtKB:A0A8M3AL27 InterPro	7933
UniProtKB:A0A8M3B3N5 InterPro	8112
UniProtKB:A0A8M3ASP9 InterPro	8045
UniProtKB:A0A8M9PGN1 InterPro	8021
UniProtKB:A0A8M6YTZ6 InterPro	8253
UniProtKB:A0A8M6Z2F9 InterPro	8221
UniProtKB:A0A8M6YU02 InterPro	8080
UniProtKB:A0A8M6YUL9 InterPro	8063
UniProtKB:A0A8M6YUK6 InterPro	8259
UniProtKB:A0A8M3AKC0 InterPro	8189
UniProtKB:A0A8M6Z325 InterPro	8084
UniProtKB:A0A8M9PB61 InterPro	8200
UniProtKB:A0A8M6Z331 InterPro	5648
UniProtKB:A0A8M3AVP3 InterPro	8042
UniProtKB:A0A8M3AL24 InterPro	8238
UniProtKB:A0A8M6Z318 InterPro	8255
UniProtKB:A0A8M6Z2G6 InterPro	8072
UniProtKB:A0A8M6YWG9 InterPro	8059
UniProtKB:A0A8M6YUL3 InterPro	8150
UniProtKB:A0A8M2B696 InterPro	8248
UniProtKB:A0A8M6YWG4 InterPro	8115
UniProtKB:A0A8M9P1Z8 InterPro	8238
UniProtKB:A0A8M3AVN6 InterPro	8227
UniProtKB:A0A8M6YWF8 InterPro	8256

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	macf1a-201 (1) Ensembl	Ensembl	16,194 nt	Select Tool ZFIN BLAST
mRNA	macf1a-202 (1) Ensembl	Ensembl	18,608 nt	Select Tool ZFIN BLAST
mRNA	macf1a-203 (1) Ensembl	Ensembl	684 nt	Select Tool ZFIN BLAST
mRNA	macf1a-204 (1) Ensembl	Ensembl	898 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations