SCD5

Protein identityUniProt · HPA

UniProt accession

Q86SK9

Gene

SCD5

Ensembl

ENSG00000145284

Chromosome

4

Canonical length

330 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

330 residues, UniProt reviewed canonical sequence.

>Q86SK9|SCD5
     1  MPGPATDAGK IPFCDAKEEI RAGLESSEGG GGPERPGARG QRQNIVWRNV VLMSLLHLGA
    61  VYSLVLIPKA KPLTLLWAYF CFLLAALGVT AGAHRLWSHR SYRAKLPLRI FLAVANSMAF
   121  QNDIFEWSRD HRAHHKYSET DADPHNARRG FFFSHIGWLF VRKHRDVIEK GRKLDVTDLL
   181  ADPVVRIQRK YYKISVVLMC FVVPTLVPWY IWGESLWNSY FLASILRYTI SLNISWLVNS
   241  AAHMYGNRPY DKHISPRQNP LVALGAIGEG FHNYHHTFPF DYSASEFGLN FNPTTWFIDF
   301  MCWLGLATDR KRATKPMIEA RKARTGDSSA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SCD5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

294 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SCD5.

Disease | AllUniProt

Conditions SCD5 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 79 (DFNA79) MIM:619086

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 54 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, autosomal dominant 79

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

0.92

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• unsaturated fatty acid biosynthetic process

Molecular functions

• iron ion binding
• oxidoreductase activity
• palmitoyl-CoA 9-desaturase activity
• stearoyl-CoA 9-desaturase activity

Cellular components

• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Fatty acid desaturase type 1, conserved site
• Fatty acid desaturase domain
• Acyl-CoA desaturase
• Fatty acid desaturase

KeywordsUniProt

• Deafness
• Endoplasmic reticulum
• Fatty acid biosynthesis
• Fatty acid metabolism
• Iron
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Metal-binding
• Non-syndromic deafness
• Oxidoreductase
• Transmembrane
• Transmembrane helix