Elovl5 MGI Mouse Gene Detail - MGI:1916051 - ELOVL family member 5, elongation of long chain fatty acids (yeast)

Elovl5 Gene Detail

Symbol

Elovl5
Name

ELOVL family member 5, elongation of long chain fatty acids (yeast)
Synonyms

1110059L23Rik

Feature Type

protein coding gene
IDs

MGI:1916051
NCBI Gene: 68801
Gene Overview

MyGene.info: ELOVL5

Sequence Map

Chr9:77917364-77984519 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

67156 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 43.36 cM
Mapping Data

2 experiments

Human Ortholog

ELOVL5, ELOVL fatty acid elongase 5

Vertebrate Orthologs

9

Human Ortholog

ELOVL5, ELOVL fatty acid elongase 5
Orthology source: HomoloGene, HGNC
Synonyms

dJ483K16.1, HELO1, SCA38
Links

HGNC:21308

NCBI Gene ID: 60481

neXtProt AC: NX_Q9NYP7
Chr Location

6p12.1; chr6:53267398-53349179 (-) GRCh38.p2

HomoloGene

Vertebrate Homology Class 41449
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: ELOVL5
Gene Tree

Elovl5

Diseases

1 with human ELOVL5 associations

				Human Disease	Mouse Models
				Spinocerebellar Ataxia 38; SCA38 OMIM: 615957

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

150
Chemically induced (other)

1
Gene trapped

146
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Elovl5
Incidental Mutations

Mutagenetix , APF

Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility.

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All GO Annotations

28
GO References

6

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

96
Tissues

95
cDNA Data

19
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase elovl5

ZFIN elovl5

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Elovl5 interacts with 307 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

49
RefSeq

6
UniProt

4
CCDS

CCDS23355.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000022986	VEGA Gene Model \| MGI Sequence Detail	67156	C57BL/6J	± kb
transcript	OTTMUST00000055326	VEGA \| MGI Sequence Detail	2782	Not Applicable
polypeptide	OTTMUSP00000026486	VEGA \| MGI Sequence Detail	299	Not Applicable

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SNPs within 2kb

473 from dbSNP Build 142

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UniProt

4 Sequences
Protein Ontology

PR:000007040 elongation of very long chain fatty acids protein 5
EC

2.3.1.199
InterPro Domains

IPR002076 ELO family

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All nucleic 20

cDNA 19

Primer pair 1

Microarray probesets 4

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MGI:2143114, MGI:2143235

Summaries

All 43

Developmental Gene Expression 4

Gene Ontology 6

Phenotypes 15
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:216600 Lau CG, et al., Morphology-based mammalian stem cell tests reveal potential developmental toxicity of donepezil. Mol Reprod Dev. 2014 Nov;81(11):994-1008

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 09/13/2016 MGI 6.05