Tissue expression of ELOVL4 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	ELOVL4
Gene description	ELOVL fatty acid elongase 4
Protein class	Disease related genes Enzymes Potential drug targets Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (skin, cerebral cortex)
GTEx:	Tissue enhanced (skin)
FANTOM5:	Tissue enhanced (retina, cerebellum)

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: Tissue enhanced (skin, cerebral cortex)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (skin)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (retina, cerebellum)

GENE INFORMATION
Gene name	ELOVL4 (HGNC Symbol)
Synonyms	CT118, SCA34, STGD2, STGD3
Description	ELOVL fatty acid elongase 4 (HGNC Symbol)
Entrez gene summary	This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
Chromosome	6
Cytoband	q14.1
Chromosome location (bp)	79914812 - 79947580
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000118402 (version 83.38)
Entrez gene	6785
UniProt	Q9GZR5 (UniProt - Evidence at protein level)
neXtProt	NX_Q9GZR5
Antibodypedia	ELOVL4 antibodies

PROTEIN BROWSER

ELOVL4-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ELOVL4-001 ENSP00000358831 ENST00000369816	Q9GZR5 [Direct mapping] Elongation of very long chain fatty acids protein 4 Show all	Enzymes ENZYME proteins Transferases 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 7TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0005515 [protein binding] GO:0005783 [endoplasmic reticulum] GO:0006633 [fatty acid biosynthetic process] GO:0008020 [G-protein coupled photoreceptor activity] GO:0009584 [detection of visible light] GO:0016021 [integral component of membrane] GO:0016740 [transferase activity] GO:0019367 [fatty acid elongation, saturated fatty acid] GO:0019432 [triglyceride biosynthetic process] GO:0030176 [integral component of endoplasmic reticulum membrane] GO:0035338 [long-chain fatty-acyl-CoA biosynthetic process] GO:0042761 [very long-chain fatty acid biosynthetic process] GO:0044255 [cellular lipid metabolic process] GO:0044281 [small molecule metabolic process] Show all	314 aa 36.8 kDa	No	7