Degs1 MGI Mouse Gene Detail - MGI:1097711 - delta 4-desaturase, sphingolipid 1

Symbol

Degs1
Name

delta 4-desaturase, sphingolipid 1
Synonyms

Des1, Mdes

Feature Type

protein coding gene
IDs

MGI:1097711
NCBI Gene: 13244
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr1:182103529-182110366 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 84.93 cM, cytoband H5
Mapping Data

3 experiments

SNPs within 2kb

268 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1097711	protein coding gene	Chr1:182103337-182110369 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016892	protein coding gene	Chr1:188896724-188904745 (-)
A/J	MGP_AJ_G0016871	protein coding gene	Chr1:181194380-181201743 (-)
AKR/J	MGP_AKRJ_G0016836	protein coding gene	Chr1:186571911-186578955 (-)
BALB/cJ	MGP_BALBcJ_G0016829	protein coding gene	Chr1:181830799-181837828 (-)
C3H/HeJ	MGP_C3HHeJ_G0016653	protein coding gene	Chr1:187382816-187389848 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017292	protein coding gene	Chr1:194998986-195006017 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014999	protein coding gene	Chr1:172121784-172129102 (-)
CAST/EiJ	MGP_CASTEiJ_G0016235	protein coding gene	Chr1:186724116-186731162 (-)
CBA/J	MGP_CBAJ_G0016627	protein coding gene	Chr1:202215770-202222809 (-)
DBA/2J	MGP_DBA2J_G0016733	protein coding gene	Chr1:179975330-179982436 (-)
FVB/NJ	MGP_FVBNJ_G0016729	protein coding gene	Chr1:178099516-178106562 (-)
LP/J	MGP_LPJ_G0016808	protein coding gene	Chr1:190083968-190090996 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016761	protein coding gene	Chr1:209254281-209261320 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017329	protein coding gene	Chr1:186391786-186398800 (-)
PWK/PhJ	MGP_PWKPhJ_G0016023	protein coding gene	Chr1:179158400-179165559 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015799	protein coding gene	Chr1:185345559-185352197 (-)
WSB/EiJ	MGP_WSBEiJ_G0016298	protein coding gene	Chr1:186582424-186589456 (-)

Human Ortholog

DEGS1, delta 4-desaturase, sphingolipid 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DEGS1, delta 4-desaturase, sphingolipid 1
Synonyms

DEGS, DEGS-1, Des-1, DES1, FADS7, HLD18, MIG15, MLD
Links

HGNC:13709

NCBI Gene ID: 8560

neXtProt AC: NX_O15121

UniProt: O15121
Chr Location

1q42.11; chr1:224175756-224193441 (+) GRCh38

MGI Vertebrate Homology

Degs1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DEGS1
Protein SuperFamily

Sphnglp_dlt4_des
Gene Tree

Degs1

Diseases

1 with human DEGS1 associations

				Human Disease	Mouse Models
				hypomyelinating leukodystrophy 18 IDs hypomyelinating leukodystrophy 18 DOID:0070399 OMIM:618404

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

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Phenotype Summary

23 phenotypes from 2 alleles in 2 genetic backgrounds
18 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

13
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

8
Targeted

1
Genomic Mutations

1 involving Degs1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

25 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit premature death, decreased to absent ceramide levels, decreased body weight, scaly skin, sparse hair, tremors, hematological and blood chemistry abnormalities, decreased bone mineral content and density and decreased liver function.

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All GO Annotations

14
GO References

7

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.

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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

825
Tissues

103
cDNA Data

145
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase degs1

ZFIN degs1

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All Sequences

46
RefSeq

4
UniProt

2
CCDS

CCDS15587.1

Ensembl

ENSMUSG00000038633 (Evidence)
NCBI Gene

13244

			Length	Strain/Species	Flank
genomic	13244	NCBI Gene Model \| MGI Sequence Detail	6838	C57BL/6J	± kb
transcript	NM_007853	RefSeq \| MGI Sequence Detail	1853	C57BL/6
polypeptide	O09005	UniProt \| EBI \| MGI Sequence Detail	323	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006413 sphingolipid Delta(4)-desaturase DES1

(term hierarchy)
EC

1.14.19.17, 5.2.1.-
InterPro Domains

IPR005804 Fatty acid desaturase domain

IPR011388 Sphingolipid delta4-desaturase

IPR013866 Sphingolipid delta4-desaturase, N-terminal

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All nucleic 146

cDNA 145

Primer pair 1

Microarray probesets 4

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MGI:2138108

Summaries

All 53

Developmental Gene Expression 6

Gene Ontology 7

Phenotypes 18
Earliest

J:41881 Endo K, et al., Mdes, a mouse homolog of the Drosophila degenerative spermatocyte gene is expressed during mouse spermatogenesis. Dev Growth Differ. 1997 Jun;39(3):399-403
Latest

J:335426 Butera A, et al., ZFP750 affects the cutaneous barrier through regulating lipid metabolism. Sci Adv. 2023 Apr 28;9(17):eadg5423

TSS for Degs1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr15613	Chr1:182110303-182110372 (-)	28 bp
Tssr15612	Chr1:182109783-182109804 (-)	572 bp
Tssr15611	Chr1:182104057-182104074 (-)	6,300 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)
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