ZFIN Gene: elna

ZFIN ID: ZDB-GENE-061212-1

ZFIN ID: ZDB-GENE-061212-1

Gene Name:

elastin a

Gene Symbol:

elna Nomenclature History

Previous Names:

eln1 (1), tropoelastin (1)

Gene Type:

protein_coding_gene

Location:

Chr: 15 Mapping Details/Browsers

Description:

Predicted to have extracellular matrix structural constituent. Predicted to localize to collagen-containing extracellular matrix. Is expressed in cranium; heart; nervous system; swim bladder; and ventral aorta. Human ortholog(s) of this gene implicated in several diseases, including aortic disease (multiple); autoimmune disease of musculoskeletal system (multiple); cutis laxa (multiple); retinal disease (multiple); and vasculitis (multiple). Orthologous to human ELN (elastin).

Genome Resources:

Alliance (1), Gene:790915 (1),

GENE EXPRESSION
All Expression Data:	11 figures from 3 publications
Wild-type Stages, Structures:	Pharyngula:Prim-5 (24.0h-30.0h) to Adult (90d-730d, breeding adult)
	brain bulbus arteriosus cardiac ventricle cranium heart valve inner ear swim bladder ventral aorta ventricular system whole organism
High Throughput Expression:	Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
sa11039	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa12235	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa17177	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa28377	Point Mutation	Unknown	Splice Site	ENU
sa32006	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa42459	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa42460	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa42461	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)

PHENOTYPE No data available

DISEASE ASSOCIATED WITH elna HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant cutis laxa 1	Alliance	Cutis laxa, autosomal dominant	123700
supravalvular aortic stenosis	Alliance	Supravalvar aortic stenosis	185500

DISEASE ASSOCIATED WITH elna VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	biological_process (more)
Cellular Component	collagen-containing extracellular matrix (more)
Molecular Function	extracellular matrix structural constituent (more)

GO Terms (all 3)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

Browsers: NCBI

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab1-elna	polyclonal	IgG	Rabbit	IHC		3

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM elna No data available

MARKER RELATIONSHIPS

elna Contained in:

[BAC] CH73-156F22 (1), CH211-257O19 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_001080063 (1)	3599 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:BX640522 (1)	154564 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:Q0Q5Z1 (1)	1164 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 172)

ORTHOLOGY for elna ( Chr: 15 )

CITATIONS (17)

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