Tissue expression of SC5D - Summary - The Human Protein Atlas

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SC5D

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	SC5D
Gene description	Sterol-C5-desaturase
Protein class	Disease related genes Enzymes Potential drug targets Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General cytoplasmic expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA066283
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	SC5D (HGNC Symbol)
Synonyms	SC5DL
Description	Sterol-C5-desaturase (HGNC Symbol)
Entrez gene summary	This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Chromosome	11
Cytoband
Chromosome location (bp)	121292453 - 121308694
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000109929 (version 83.38)
Entrez gene	6309
UniProt	O75845 (UniProt - Evidence at protein level)
neXtProt	NX_O75845
Antibodypedia	SC5D antibodies

PROTEIN BROWSER

SC5D-001	SC5D-002	SC5D-004	SC5D-007

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SC5D-001 ENSP00000264027 ENST00000264027	O75845 [Direct mapping] Lathosterol oxidase A0A024R3G4 [Target identity:100%; Query identity:100%] Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like, isoform CRA_b 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 Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000248 [C-5 sterol desaturase activity] GO:0005506 [iron ion binding] GO:0005789 [endoplasmic reticulum membrane] GO:0006629 [lipid metabolic process] GO:0006633 [fatty acid biosynthetic process] GO:0006695 [cholesterol biosynthetic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0033490 [cholesterol biosynthetic process via lathosterol] GO:0043231 [intracellular membrane-bounded organelle] GO:0044281 [small molecule metabolic process] GO:0055114 [oxidation-reduction process] Show all	299 aa 35.3 kDa	No	4
SC5D-002 ENSP00000376539 ENST00000392789	O75845 [Direct mapping] Lathosterol oxidase A0A024R3G4 [Target identity:100%; Query identity:100%] Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like, isoform CRA_b 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 Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005506 [iron ion binding] GO:0005789 [endoplasmic reticulum membrane] GO:0006629 [lipid metabolic process] GO:0006633 [fatty acid biosynthetic process] GO:0006695 [cholesterol biosynthetic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0044281 [small molecule metabolic process] GO:0055114 [oxidation-reduction process] Show all	299 aa 35.3 kDa	No	4
SC5D-004 ENSP00000432550 ENST00000534230	E9PQ91 [Direct mapping] Lathosterol oxidase 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 4TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005506 [iron ion binding] GO:0006633 [fatty acid biosynthetic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	228 aa 27.1 kDa	No	4
SC5D-007 ENSP00000436290 ENST00000527762	E9PPW5 [Direct mapping] Lathosterol oxidase 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 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005506 [iron ion binding] GO:0006633 [fatty acid biosynthetic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	177 aa 21.4 kDa	No	3

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.