Tissue expression of NHLRC1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	NHLRC1
Gene description	NHL repeat containing E3 ubiquitin protein ligase 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Mixed
FANTOM5:	Mixed

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: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Mixed

GENE INFORMATION
Gene name	NHLRC1 (HGNC Symbol)
Synonyms	bA204B7.2, EPM2B, malin
Description	NHL repeat containing E3 ubiquitin protein ligase 1 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
Chromosome	6
Cytoband	p22.3
Chromosome location (bp)	18121419 - 18122606
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000187566 (version 83.38)
Entrez gene	378884
UniProt	Q6VVB1 (UniProt - Evidence at protein level)
neXtProt	NX_Q6VVB1
Antibodypedia	NHLRC1 antibodies

PROTEIN BROWSER

NHLRC1-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NHLRC1-001 ENSP00000345464 ENST00000340650	Q6VVB1 [Direct mapping] E3 ubiquitin-protein ligase NHLRC1 Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0000209 [protein polyubiquitination] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005783 [endoplasmic reticulum] GO:0005829 [cytosol] GO:0005975 [carbohydrate metabolic process] GO:0005978 [glycogen biosynthetic process] GO:0006006 [glucose metabolic process] GO:0006914 [autophagy] GO:0008270 [zinc ion binding] GO:0016874 [ligase activity] GO:0031398 [positive regulation of protein ubiquitination] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044281 [small molecule metabolic process] GO:0048471 [perinuclear region of cytoplasm] GO:0061630 [ubiquitin protein ligase activity] Show all	395 aa 42.3 kDa	No	0