Tissue expression of DEGS1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	DEGS1
Gene description	Delta(4)-desaturase, sphingolipid 1
Protein class	Enzymes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Tissue enriched (skin)
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skin)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	DEGS1 (HGNC Symbol)
Synonyms	DEGS-1, Des-1, DES1, FADS7, MLD
Description	Delta(4)-desaturase, sphingolipid 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
Chromosome	1
Cytoband	q42.11
Chromosome location (bp)	224175756 - 224193441
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000143753 (version 83.38)
Entrez gene	8560
UniProt	O15121 (UniProt - Evidence at protein level)
neXtProt	NX_O15121
Antibodypedia	DEGS1 antibodies

PROTEIN BROWSER

DEGS1-001	DEGS1-004	DEGS1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DEGS1-001 ENSP00000316476 ENST00000323699	O15121 [Direct mapping] Sphingolipid delta(4)-desaturase DES1 A0A024R3P1 [Target identity:100%; Query identity:100%] Degenerative spermatocyte homolog 1, lipid desaturase (Drosophila), isoform CRA_a Show all	Enzymes ENZYME proteins Oxidoreductases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005887 [integral component of plasma membrane] GO:0006629 [lipid metabolic process] GO:0006636 [unsaturated fatty acid biosynthetic process] GO:0006665 [sphingolipid metabolic process] GO:0009055 [electron carrier activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0030148 [sphingolipid biosynthetic process] GO:0042284 [sphingolipid delta-4 desaturase activity] GO:0044281 [small molecule metabolic process] GO:0046513 [ceramide biosynthetic process] GO:0055114 [oxidation-reduction process] Show all	323 aa 37.9 kDa	No	4
DEGS1-004 ENSP00000400545 ENST00000415210	E7EMA0 [Direct mapping] Sphingolipid delta(4)-desaturase DES1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 5TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0006629 [lipid metabolic process] GO:0016021 [integral component of membrane] GO:0042284 [sphingolipid delta-4 desaturase activity] GO:0046513 [ceramide biosynthetic process] GO:0055114 [oxidation-reduction process] Show all	261 aa 30.1 kDa	No	5
DEGS1-201 ENSP00000375749 ENST00000391877	O15121 [Direct mapping] Sphingolipid delta(4)-desaturase DES1 A0A024R3P1 [Target identity:100%; Query identity:100%] Degenerative spermatocyte homolog 1, lipid desaturase (Drosophila), isoform CRA_a Show all	Enzymes ENZYME proteins Oxidoreductases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005887 [integral component of plasma membrane] GO:0006629 [lipid metabolic process] GO:0006636 [unsaturated fatty acid biosynthetic process] GO:0006665 [sphingolipid metabolic process] GO:0009055 [electron carrier activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0030148 [sphingolipid biosynthetic process] GO:0042284 [sphingolipid delta-4 desaturase activity] GO:0044281 [small molecule metabolic process] GO:0046513 [ceramide biosynthetic process] GO:0055114 [oxidation-reduction process] Show all	323 aa 37.9 kDa	No	4