Gene

syne1a

ID

ZDB-GENE-030131-4172

Name

spectrin repeat containing, nuclear envelope 1a

Symbol

syne1a Nomenclature History

Previous Names

si:ch211-225l4.1
si:ch211-87a14.2
wu:fc76h10

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to have actin filament binding activity. Predicted to be involved in cytoskeletal anchoring at nuclear membrane. Predicted to localize to integral component of membrane and meiotic nuclear membrane microtubule tethering complex. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 4; autosomal recessive spinocerebellar ataxia 8; bipolar disorder; cerebellar ataxia; and muscular dystrophy. Is expressed in basal plate midbrain region; heart; and nervous system. Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

eu1113 (13 images)

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 syne1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
arthrogryposis multiplex congenita-3	Alliance	Arthrogryposis multiplex congenita 3, myogenic type	618484
autosomal dominant Emery-Dreifuss muscular dystrophy 4	Alliance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998
autosomal recessive spinocerebellar ataxia 8	Alliance	Spinocerebellar ataxia, autosomal recessive 8	610743

Associated With syne1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001715	Calponin homology domain
Domain	IPR012315	KASH domain
Domain	IPR047290	Nesprin-1-like, first calponin homology domain
Domain	IPR047291	Nesprin-1-like, second calponin homology domain
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR002017	Spectrin repeat
Repeat	IPR018159	Spectrin/alpha-actinin

Domain Details Per Protein

Protein	Length	Actinin-type actin-binding domain, conserved site	Calponin homology domain	CH domain superfamily	KASH domain	Nesprin-1-like, first calponin homology domain	Nesprin-1-like, second calponin homology domain	Spectrin/alpha-actinin	Spectrin repeat
UniProtKB:A0A8M9Q747 InterPro	8731
UniProtKB:A0A8M9PD82 InterPro	8718
UniProtKB:A0A8M9PPT9 InterPro	8708
UniProtKB:A0A8M9Q2Z9 InterPro	8718
UniProtKB:A0A8M9PHU3 InterPro	5765
UniProtKB:A0A8M9PC75 InterPro	8731

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	syne1a-201 (1) Ensembl	Havana	26957 nt	Select Tool MegaBLAST Ensembl
mRNA	syne1a-202 (1) Ensembl	Havana	838 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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