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

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
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr9:77917365-77984519 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 43.36 cM
Mapping Data

2 experiments

SNPs within 2kb

473 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916051	protein coding gene	Chr9:77917364-77984519 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035055	protein coding gene	Chr9:78377627-78450580 (+)
A/J	MGP_AJ_G0035036	protein coding gene	Chr9:75640779-75709618 (+)
AKR/J	MGP_AKRJ_G0034965	protein coding gene	Chr9:77439345-77509194 (+)
BALB/cJ	MGP_BALBcJ_G0035028	protein coding gene	Chr9:75318803-75388070 (+)
C3H/HeJ	MGP_C3HHeJ_G0034737	protein coding gene	Chr9:77955115-78026620 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035546	protein coding gene	Chr9:80482505-80555107 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032457	protein coding gene	Chr9:74877520-74943785 (+)
CAST/EiJ	MGP_CASTEiJ_G0034059	protein coding gene	Chr9:78293082-78365870 (+)
CBA/J	MGP_CBAJ_G0034709	protein coding gene	Chr9:83236906-83320909 (+)
DBA/2J	MGP_DBA2J_G0034869	protein coding gene	Chr9:75300525-75371172 (+)
FVB/NJ	MGP_FVBNJ_G0034811	protein coding gene	Chr9:74543859-74614602 (+)
LP/J	MGP_LPJ_G0034950	protein coding gene	Chr9:78608103-78683083 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034852	protein coding gene	Chr9:84473868-84549194 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035569	protein coding gene	Chr9:77615627-77684371 (+)
PWK/PhJ	MGP_PWKPhJ_G0033763	protein coding gene	Chr9:75532493-75598523 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033596	protein coding gene	Chr9:77845099-77911224 (+)
WSB/EiJ	MGP_WSBEiJ_G0034171	protein coding gene	Chr9:77537898-77609456 (+)

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

UniProt: Q9NYP7
Chr Location

6p12.1; chr6:53267398-53349179 (-) GRCh38.p7

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 type 38 IDs spinocerebellar ataxia type 38 DOID:0050985 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
16 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	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
Find Mice (IMSR)

78 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

29
GO References

6

External Resources

FuncBase

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

98
Tissues

96
cDNA Data

20
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
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

61
RefSeq

8
UniProt

4
CCDS

CCDS23355.1

Ensembl

ENSMUSG00000032349 (Evidence)
NCBI Gene

68801

			Length	Strain/Species	Flank
genomic	68801	NCBI Gene Model \| MGI Sequence Detail	67155	C57BL/6J	± kb
transcript	NM_134255	RefSeq \| MGI Sequence Detail	2802	C57BL/6
polypeptide	Q8BHI7	UniProt \| EBI \| MGI Sequence Detail	299	Not Applicable

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UniProt

4 Sequences
Protein Ontology

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

(term hierarchy)
EC

2.3.1.199
InterPro Domains

IPR002076 ELO family

IPR033677 Elongation of very long chain fatty acids protein 5

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All nucleic 22

cDNA 20

Primer pair 2

Microarray probesets 4

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MGI:2143114, MGI:2143235

Summaries

All 51

Developmental Gene Expression 4

Gene Ontology 6

Phenotypes 16
Earliest

J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
Latest

J:275163 Hoxha E, et al., Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice. Front Cell Neurosci. 2017;11:343

TSS for Elovl5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr86214	Chr9:77917185-77917207 (+)	-169 bp
Tssr86215	Chr9:77917208-77917223 (+)	-149 bp
Tssr86216	Chr9:77917248-77917257 (+)	-112 bp
Tssr86217	Chr9:77917375-77917386 (+)	16 bp
Tssr86218	Chr9:77917397-77917453 (+)	60 bp
Tssr2945	Chr9:77917462-77917473 (+)	103 bp
Tssr86221	Chr9:77921476-77921481 (+)	4,114 bp
Tssr86222	Chr9:77921485-77921500 (+)	4,128 bp
Tssr86223	Chr9:77921522-77921527 (+)	4,160 bp
Tssr86224	Chr9:77921721-77921746 (+)	4,369 bp
Tssr86225	Chr9:77921908-77921919 (+)	4,549 bp
Tssr86232	Chr9:77941234-77941244 (+)	23,874 bp
Tssr86233	Chr9:77941253-77941270 (+)	23,897 bp
Tssr86234	Chr9:77941274-77941303 (+)	23,924 bp
Tssr86240	Chr9:77976762-77976773 (+)	59,403 bp
Tssr86241	Chr9:77976842-77976854 (+)	59,483 bp
Tssr86242	Chr9:77976882-77976893 (+)	59,523 bp
Tssr86251	Chr9:77982999-77983033 (+)	65,651 bp
Tssr86252	Chr9:77983154-77983165 (+)	65,795 bp
Tssr86253	Chr9:77983517-77983547 (+)	66,167 bp
Tssr86254	Chr9:77983571-77983582 (+)	66,212 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 10/08/2019 MGI 6.14