Elovl1 MGI Mouse Gene Detail - MGI:1858959 - ELOVL fatty acid elongase 1

Symbol

Elovl1
Name

ELOVL fatty acid elongase 1
Synonyms

elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1, Ssc1

Feature Type

protein coding gene
IDs

MGI:1858959
NCBI Gene: 54325
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr4:118285321-118290150 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 54.61 cM
Mapping Data

3 experiments

SNPs within 2kb

125 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1858959	protein coding gene	Chr4:118285290-118290150 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028667	protein coding gene	Chr4:119485050-119489557 (+)
A/J	MGP_AJ_G0028628	protein coding gene	Chr4:114849955-114854529 (+)
AKR/J	MGP_AKRJ_G0028578	protein coding gene	Chr4:117354398-117358488 (+)
BALB/cJ	MGP_BALBcJ_G0028649	protein coding gene	Chr4:115490953-115495478 (+)
C3H/HeJ	MGP_C3HHeJ_G0028363	protein coding gene	Chr4:118933659-118938177 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029090	protein coding gene	Chr4:124049538-124054129 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026374	protein coding gene	Chr4:108869068-108873959 (+)
CAST/EiJ	MGP_CASTEiJ_G0027797	protein coding gene	Chr4:116192710-116197303 (+)
CBA/J	MGP_CBAJ_G0028330	protein coding gene	Chr4:127457389-127461915 (+)
DBA/2J	MGP_DBA2J_G0028478	protein coding gene	Chr4:115460913-115465498 (+)
FVB/NJ	MGP_FVBNJ_G0028446	protein coding gene	Chr4:113979658-113984602 (+)
LP/J	MGP_LPJ_G0028580	protein coding gene	Chr4:119665256-119669845 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028473	protein coding gene	Chr4:132337757-132342262 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029127	protein coding gene	Chr4:118518992-118523577 (+)
PWK/PhJ	MGP_PWKPhJ_G0027523	protein coding gene	Chr4:112293070-112297710 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027346	protein coding gene	Chr4:114819594-114824181 (+)
WSB/EiJ	MGP_WSBEiJ_G0027876	protein coding gene	Chr4:118415196-118419703 (+)

Human Ortholog

ELOVL1, ELOVL fatty acid elongase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ELOVL1, ELOVL fatty acid elongase 1
Synonyms

CGI-88, IKSHD, Ssc1
Links

HGNC:14418

NCBI Gene ID: 64834

neXtProt AC: NX_Q9BW60

UniProt: Q9BW60
Chr Location

1p34.2; chr1:43363398-43368074 (-) GRCh38

MGI Vertebrate Homology

Elovl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ELOVL1
Gene Tree

Elovl1

less

Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
20 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

14
Chemically induced (other)

2
Gene trapped

2
Radiation induced

1
Targeted

7
Transgenic

2
Genomic Mutations

4 involving Elovl1
Incidental Mutations

APF
Find Mice (IMSR)

23 strains or lines available

Mice homozygous for a targeted allele exhibit complete neonatal lethality, abnormal skin morphology, impaired skin barrier function, decreased weight and impaired formation of very long chain fatty acids.

less

All GO Annotations

24
GO References

9

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

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

741
Tissues

23
cDNA Data

14
Literature Summary

7

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase elovl1

ZFIN elovl1a, elovl1b

less

All Sequences

72
RefSeq

12
UniProt

4
CCDS

CCDS18549.1, CCDS18550.1

Ensembl

ENSMUSG00000006390 (Evidence)
NCBI Gene

54325

			Length	Strain/Species	Flank
genomic	54325	NCBI Gene Model \| MGI Sequence Detail	4830	C57BL/6J	± kb
transcript	NM_001424988	RefSeq \| MGI Sequence Detail	3167	C57BL/6
polypeptide	Q9JLJ5	UniProt \| EBI \| MGI Sequence Detail	279	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000007036 very long chain fatty acid elongase 1

(term hierarchy)
EC

2.3.1.199
InterPro Domains

IPR002076 ELO family

IPR030457 ELO family, conserved site

IPR033681 Elongation of very long chain fatty acids protein 1
GlyGen

Q9JLJ5 1 site, 1 O-linked glycan (1 site)

less

All nucleic 21

cDNA 16

Primer pair 5

Microarray probesets 6

less

MGI:2140119, MGI:2140640

Summaries

All 59

Developmental Gene Expression 7

Gene Ontology 9

Phenotypes 20
Earliest

J:170151 LORCH J, Note on the cytological localization of alkaline phosphatase. Q J Microsc Sci. 1947 Jun;88(Pt 2):159-61
Latest

J:335285 Sassa T, et al., Involvement of omega-O-acylceramides and protein-bound ceramides in oral permeability barrier formation. Cell Rep. 2023 Apr 5;:112363

TSS for Elovl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38657	Chr4:118284092-118284095 (+)	-1,227 bp
Tssr38658	Chr4:118285275-118285391 (+)	12 bp
Tssr38659	Chr4:118285993-118286013 (+)	682 bp
Tssr38660	Chr4:118286878-118286887 (+)	1,562 bp
Tssr38661	Chr4:118286899-118286922 (+)	1,590 bp
Tssr38662	Chr4:118286938-118286961 (+)	1,629 bp
Tssr38663	Chr4:118288403-118288411 (+)	3,086 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24