Tissue expression of HEXA - Summary - The Human Protein Atlas

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HEXA

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	HEXA
Gene description	Hexosaminidase A (alpha polypeptide)
Protein class	Candidate cardiovascular disease genes Disease related genes Enzymes Plasma proteins Potential drug targets Predicted secreted proteins
Predicted localization	Secreted
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

Lysosomal expression in several tissues, most abundant in lung and gallbladder.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. HPA054583
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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	HEXA
Synonyms
Description	Hexosaminidase A (alpha polypeptide) (HGNC Symbol)
Entrez gene summary	This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]
Chromosome	15
Cytoband	q23
Chromosome location (bp)	72340919 - 72376476
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000213614 (version 83.38)
Entrez gene	3073
UniProt	P06865 (UniProt - Evidence at protein level)
neXtProt	NX_P06865
Antibodypedia	HEXA antibodies

PROTEIN BROWSER

HEXA-001	HEXA-007	HEXA-012	HEXA-016

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HEXA-001 ENSP00000268097 ENST00000268097	P06865 [Direct mapping] Beta-hexosaminidase subunit alpha Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Candidate cardiovascular disease genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0004563 [beta-N-acetylhexosaminidase activity] GO:0005975 [carbohydrate metabolic process] GO:0006024 [glycosaminoglycan biosynthetic process] GO:0006665 [sphingolipid metabolic process] GO:0006687 [glycosphingolipid metabolic process] GO:0008375 [acetylglucosaminyltransferase activity] GO:0016020 [membrane] GO:0030203 [glycosaminoglycan metabolic process] GO:0030204 [chondroitin sulfate metabolic process] GO:0030207 [chondroitin sulfate catabolic process] GO:0030212 [hyaluronan metabolic process] GO:0030214 [hyaluronan catabolic process] GO:0042339 [keratan sulfate metabolic process] GO:0042340 [keratan sulfate catabolic process] GO:0042582 [azurophil granule] GO:0043202 [lysosomal lumen] GO:0044281 [small molecule metabolic process] GO:0046982 [protein heterodimerization activity] GO:0070062 [extracellular exosome] Show all	529 aa 60.7 kDa	Yes	0
HEXA-007 ENSP00000478217 ENST00000567213	A0A087WTY2 [Direct mapping] Beta-hexosaminidase subunit alpha Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		119 aa 13.3 kDa	Yes	0
HEXA-012 ENSP00000455114 ENST00000566304	H3BP20 [Direct mapping] Beta-hexosaminidase Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0004563 [beta-N-acetylhexosaminidase activity] GO:0005975 [carbohydrate metabolic process] Show all	540 aa 62 kDa	Yes	0
HEXA-016 ENSP00000456489 ENST00000567159	H3BS10 [Direct mapping] Beta-hexosaminidase Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0004563 [beta-N-acetylhexosaminidase activity] GO:0005975 [carbohydrate metabolic process] Show all	509 aa 58.4 kDa	Yes	0

Contact

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The Project

The Human Protein Atlas

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