Tissue expression of SCNN1A - Summary - The Human Protein Atlas

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SCNN1A

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TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	SCNN1A
Gene description	Sodium channel, non voltage gated 1 alpha subunit
Protein class	Disease related genes FDA approved drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Mixed
FANTOM5:	Tissue enhanced (kidney, thyroid gland)

Protein evidence

Evidence at protein level

Protein expression

Membranous and cytoplasmic expression in most tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. HPA012743
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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: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (kidney, thyroid gland)

GENE INFORMATION
Gene name	SCNN1A (HGNC Symbol)
Synonyms	ENaCalpha, SCNN1
Description	Sodium channel, non voltage gated 1 alpha subunit (HGNC Symbol)
Entrez gene summary	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
Chromosome	12
Cytoband	p13.31
Chromosome location (bp)	6346843 - 6377730
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000111319 (version 83.38)
Entrez gene	6337
UniProt	P37088 (UniProt - Evidence at protein level)
neXtProt	NX_P37088
Antibodypedia	SCNN1A antibodies

PROTEIN BROWSER

SCNN1A-001	SCNN1A-002	SCNN1A-003	SCNN1A-004	SCNN1A-007	SCNN1A-022

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SCNN1A-001 ENSP00000228916 ENST00000228916	P37088 [Direct mapping] Amiloride-sensitive sodium channel subunit alpha Show all	Transporters Transporter channels and pores 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 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0005272 [sodium channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006814 [sodium ion transport] GO:0015280 [ligand-gated sodium channel activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0031514 [motile cilium] GO:0034220 [ion transmembrane transport] GO:0034706 [sodium channel complex] GO:0035725 [sodium ion transmembrane transport] GO:0050699 [WW domain binding] GO:0050891 [multicellular organismal water homeostasis] GO:0050896 [response to stimulus] GO:0050909 [sensory perception of taste] GO:0055078 [sodium ion homeostasis] GO:0055085 [transmembrane transport] GO:0060170 [ciliary membrane] GO:0070062 [extracellular exosome] Show all	669 aa 75.7 kDa	No	2
SCNN1A-002 ENSP00000353292 ENST00000360168	P37088 [Direct mapping] Amiloride-sensitive sodium channel subunit alpha Show all	Transporters Transporter channels and pores 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 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0003779 [actin binding] GO:0005272 [sodium channel activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006814 [sodium ion transport] GO:0009897 [external side of plasma membrane] GO:0015280 [ligand-gated sodium channel activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0030864 [cortical actin cytoskeleton] GO:0031514 [motile cilium] GO:0034220 [ion transmembrane transport] GO:0034706 [sodium channel complex] GO:0035725 [sodium ion transmembrane transport] GO:0050699 [WW domain binding] GO:0050878 [regulation of body fluid levels] GO:0050891 [multicellular organismal water homeostasis] GO:0050896 [response to stimulus] GO:0050909 [sensory perception of taste] GO:0055078 [sodium ion homeostasis] GO:0055085 [transmembrane transport] GO:0060170 [ciliary membrane] GO:0070062 [extracellular exosome] Show all	728 aa 81.9 kDa	No	2
SCNN1A-003 ENSP00000438739 ENST00000543768	P37088 [Direct mapping] Amiloride-sensitive sodium channel subunit alpha Show all	Transporters Transporter channels and pores 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 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0005272 [sodium channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006814 [sodium ion transport] GO:0015280 [ligand-gated sodium channel activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0031514 [motile cilium] GO:0034220 [ion transmembrane transport] GO:0034706 [sodium channel complex] GO:0035725 [sodium ion transmembrane transport] GO:0050699 [WW domain binding] GO:0050891 [multicellular organismal water homeostasis] GO:0050896 [response to stimulus] GO:0050909 [sensory perception of taste] GO:0055078 [sodium ion homeostasis] GO:0055085 [transmembrane transport] GO:0060170 [ciliary membrane] GO:0070062 [extracellular exosome] Show all	692 aa 78.2 kDa	No	2
SCNN1A-004 ENSP00000440876 ENST00000540037	F5GXE6 [Direct mapping] Amiloride-sensitive sodium channel subunit alpha 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 # TM segments-based 1TM proteins predicted by MDM Show all	GO:0005272 [sodium channel activity] GO:0006814 [sodium ion transport] GO:0015280 [ligand-gated sodium channel activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0035725 [sodium ion transmembrane transport] Show all	369 aa 40.9 kDa	No	1
SCNN1A-007 ENSP00000443434 ENST00000536788	F5H5F8 [Direct mapping] Amiloride-sensitive sodium channel subunit alpha 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 1TM proteins predicted by MDM Show all	GO:0005272 [sodium channel activity] GO:0006814 [sodium ion transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0035725 [sodium ion transmembrane transport] Show all	159 aa 18.1 kDa	No	1
SCNN1A-022 ENSP00000380166 ENST00000396966	J3KPV6 [Direct mapping] Amiloride-sensitive sodium channel subunit alpha 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 1TM proteins predicted by MDM Show all	GO:0005272 [sodium channel activity] GO:0006814 [sodium ion transport] GO:0015280 [ligand-gated sodium channel activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0035725 [sodium ion transmembrane transport] Show all	511 aa 59 kDa	No	1

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The Human Protein Atlas project is funded
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