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Protein

Amiloride-sensitive sodium channel subunit beta

Gene

SCNN1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.1 Publication1 Publication

Enzyme regulationi

Activated by WNK1, WNK2, WNK3 and WNK4.By similarity

GO - Molecular functioni

  • ligand-gated sodium channel activity Source: ProtInc
  • WW domain binding Source: BHF-UCL

GO - Biological processi

  • excretion Source: ProtInc
  • ion transmembrane transport Source: Reactome
  • multicellular organismal water homeostasis Source: UniProtKB
  • response to stimulus Source: UniProtKB-KW
  • sensory perception of taste Source: UniProtKB-KW
  • sodium ion homeostasis Source: UniProtKB
  • sodium ion transmembrane transport Source: UniProtKB
  • sodium ion transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel

Keywords - Biological processi

Ion transport, Sensory transduction, Sodium transport, Taste, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168447-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
SIGNORiP51168.

Protein family/group databases

TCDBi1.A.6.1.1. the epithelial na(+) channel (enac) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Amiloride-sensitive sodium channel subunit beta
Alternative name(s):
Beta-NaCH
Epithelial Na(+) channel subunit beta
Short name:
Beta-ENaC
Short name:
ENaCB
Nonvoltage-gated sodium channel 1 subunit beta
SCNEB
Gene namesi
Name:SCNN1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:10600. SCNN1B.

Subcellular locationi

  • Apical cell membrane 1 Publication; Multi-pass membrane protein By similarity
  • Cytoplasmic vesicle membrane By similarity

  • Note: Apical membrane of epithelial cells.1 Publication

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 50CytoplasmicBy similarityAdd BLAST50
Transmembranei51 – 71Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini72 – 532ExtracellularBy similarityAdd BLAST461
Transmembranei533 – 553Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini554 – 640CytoplasmicBy similarityAdd BLAST87

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB-SubCell
  • cytoplasmic vesicle membrane Source: UniProtKB-SubCell
  • external side of plasma membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • plasma membrane Source: Reactome
  • sodium channel complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Involvement in diseasei

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878).1 Publication
Disease descriptionA rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
See also OMIM:264350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00712737G → S in PHA1B. 1 PublicationCorresponds to variant rs137852706dbSNPEnsembl.1
Liddle syndrome (LIDLS)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
See also OMIM:177200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007128616P → L in LIDLS. 3 PublicationsCorresponds to variant rs387906402dbSNPEnsembl.1
Natural variantiVAR_007129616P → S in LIDLS. 1 Publication1
Natural variantiVAR_026520617P → S in LIDLS. 1 PublicationCorresponds to variant rs137852708dbSNPEnsembl.1
Natural variantiVAR_026521618P → R in LIDLS. 1 PublicationCorresponds to variant rs137852705dbSNPEnsembl.1
Natural variantiVAR_026522620Y → H in LIDLS; constitutive channel activation. 1 PublicationCorresponds to variant rs137852707dbSNPEnsembl.1
Bronchiectasis with or without elevated sweat chloride 1 (BESC1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.
See also OMIM:211400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06240182S → C in BESC1. 2 PublicationsCorresponds to variant rs35731153dbSNPEnsembl.1
Natural variantiVAR_062402267P → L in BESC1; decreased channel activity. 1 PublicationCorresponds to variant rs137852709dbSNPEnsembl.1
Natural variantiVAR_062403288N → S in BESC1. 1 PublicationCorresponds to variant rs137852712dbSNPEnsembl.1
Natural variantiVAR_062404294G → S in BESC1; increased channel activity. 1 PublicationCorresponds to variant rs72654338dbSNPEnsembl.1
Natural variantiVAR_062405348V → M in BESC1. 1 PublicationCorresponds to variant rs61759921dbSNPEnsembl.1
Natural variantiVAR_062406369P → T in BESC1. 1 PublicationCorresponds to variant rs137852711dbSNPEnsembl.1
Natural variantiVAR_062407539E → K in BESC1; decreased channel activity. 1 PublicationCorresponds to variant rs137852710dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6338.
MalaCardsiSCNN1B.
MIMi177200. phenotype.
211400. phenotype.
264350. phenotype.
OpenTargetsiENSG00000168447.
Orphaneti171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBiPA306.

Chemistry databases

ChEMBLiCHEMBL2107836.
DrugBankiDB00594. Amiloride.
DB00384. Triamterene.

Polymorphism and mutation databases

BioMutaiSCNN1B.
DMDMi8928561.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001812681 – 640Amiloride-sensitive sodium channel subunit betaAdd BLAST640

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi260N-linked (GlcNAc...)Sequence analysis1
Modified residuei633PhosphoserineBy similarity1
Modified residuei635PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.By similarity
N-glycosylated. N-glycosylation is required for interaction with BPIFA1.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP51168.
PeptideAtlasiP51168.
PRIDEiP51168.

PTM databases

iPTMnetiP51168.
PhosphoSitePlusiP51168.

Expressioni

Tissue specificityi

Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244).2 Publications

Gene expression databases

BgeeiENSG00000168447.
CleanExiHS_SCNN1B.
ExpressionAtlasiP51168. baseline and differential.
GenevisibleiP51168. HS.

Organism-specific databases

HPAiHPA015612.

Interactioni

Subunit structurei

Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (PubMed:7499195, PubMed:16423824). Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:12167593). Interacts with NEDD4L (via WW domains) (PubMed:11244092). Interacts with WWP1 (via WW domains) (PubMed:9169421). Interacts with WWP2 (via WW domains) (PubMed:9169421, PubMed:12167593). Interacts with the full length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497). Interacts (N-glycosylated) with BPIFA1; the interaction is direct and inhibits the proteolytic processing of SCNN1A and SCNN1G and the activation of ENaC (PubMed:24124190, PubMed:24043776).8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NEDD4P469344EBI-2547187,EBI-726944

GO - Molecular functioni

  • WW domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi112242. 18 interactors.
IntActiP51168. 4 interactors.
MINTiMINT-198733.
STRINGi9606.ENSP00000345751.

Structurei

3D structure databases

ProteinModelPortaliP51168.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4294. Eukaryota.
ENOG410ZNFK. LUCA.
GeneTreeiENSGT00760000119120.
HOGENOMiHOG000236286.
HOVERGENiHBG058435.
InParanoidiP51168.
KOiK04825.
OMAiCNDTQYK.
OrthoDBiEOG091G0KW6.
PhylomeDBiP51168.
TreeFamiTF330663.

Family and domain databases

InterProiIPR004724. ENaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERiPTHR11690. PTHR11690. 2 hits.
PfamiPF00858. ASC. 1 hit.
[Graphical view]
PRINTSiPR01078. AMINACHANNEL.
TIGRFAMsiTIGR00859. ENaC. 1 hit.
PROSITEiPS01206. ASC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P51168-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA
60 70 80 90 100
MWFLLTLLFA ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA
110 120 130 140 150
SPFKYSKIKH LLKDLDELME AVLERILAPE LSHANATRNL NFSIWNHTPL
160 170 180 190 200
VLIDERNPHH PMVLDLFGDN HNGLTSSSAS EKICNAHGCK MAMRLCSLNR
210 220 230 240 250
TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY PGEQMILACL
260 270 280 290 300
FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD
310 320 330 340 350
IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK
360 370 380 390 400
LQRMGEPYSP CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN
410 420 430 440 450
CGHYLYPLPR GEKYCNNRDF PDWAHCYSDL QMSVAQRETC IGMCKESCND
460 470 480 490 500
TQYKMTISMA DWPSEASEDW IFHVLSQERD QSTNITLSRK GIVKLNIYFQ
510 520 530 540 550
EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF GEIIIDFVWI
560 570 580 590 600
TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN
610 620 630 640
TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAI
Length:640
Mass (Da):72,659
Last modified:December 1, 2000 - v2
Checksum:i5249867F0A960E0C
GO
Isoform 2 (identifier: P51168-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLLHINPAYLFKLLHGFPPWIMPTDGNLGDKNFQMGKPGHREGATM

Show »
Length:685
Mass (Da):77,703
Checksum:iED75B0423B2C083B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti41I → T in AAH36352 (PubMed:15489334).Curated1
Sequence conflicti314A → G in CAA60632 (PubMed:7490094).Curated1
Sequence conflicti498Y → F in AAA75459 (PubMed:7762608).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00712737G → S in PHA1B. 1 PublicationCorresponds to variant rs137852706dbSNPEnsembl.1
Natural variantiVAR_06240182S → C in BESC1. 2 PublicationsCorresponds to variant rs35731153dbSNPEnsembl.1
Natural variantiVAR_062402267P → L in BESC1; decreased channel activity. 1 PublicationCorresponds to variant rs137852709dbSNPEnsembl.1
Natural variantiVAR_062403288N → S in BESC1. 1 PublicationCorresponds to variant rs137852712dbSNPEnsembl.1
Natural variantiVAR_062404294G → S in BESC1; increased channel activity. 1 PublicationCorresponds to variant rs72654338dbSNPEnsembl.1
Natural variantiVAR_036480311A → V in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs777888930dbSNPEnsembl.1
Natural variantiVAR_036481314A → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_015836336A → P.2 Publications1
Natural variantiVAR_062405348V → M in BESC1. 1 PublicationCorresponds to variant rs61759921dbSNPEnsembl.1
Natural variantiVAR_062406369P → T in BESC1. 1 PublicationCorresponds to variant rs137852711dbSNPEnsembl.1
Natural variantiVAR_036482387L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_015837434V → M.1 PublicationCorresponds to variant rs201330438dbSNPEnsembl.1
Natural variantiVAR_014891442G → V.2 PublicationsCorresponds to variant rs1799980dbSNPEnsembl.1
Natural variantiVAR_062407539E → K in BESC1; decreased channel activity. 1 PublicationCorresponds to variant rs137852710dbSNPEnsembl.1
Natural variantiVAR_026519563R → Q Associated with hypertension in South African Black. 1 PublicationCorresponds to variant rs149868979dbSNPEnsembl.1
Natural variantiVAR_015838589G → S.1 PublicationCorresponds to variant rs61759926dbSNPEnsembl.1
Natural variantiVAR_014892594T → M.1 PublicationCorresponds to variant rs1799979dbSNPEnsembl.1
Natural variantiVAR_015839597R → H.1 PublicationCorresponds to variant rs140945152dbSNPEnsembl.1
Natural variantiVAR_007128616P → L in LIDLS. 3 PublicationsCorresponds to variant rs387906402dbSNPEnsembl.1
Natural variantiVAR_007129616P → S in LIDLS. 1 Publication1
Natural variantiVAR_026520617P → S in LIDLS. 1 PublicationCorresponds to variant rs137852708dbSNPEnsembl.1
Natural variantiVAR_026521618P → R in LIDLS. 1 PublicationCorresponds to variant rs137852705dbSNPEnsembl.1
Natural variantiVAR_026522620Y → H in LIDLS; constitutive channel activation. 1 PublicationCorresponds to variant rs137852707dbSNPEnsembl.1
Natural variantiVAR_015840624R → C.1 PublicationCorresponds to variant rs372132399dbSNPEnsembl.1
Natural variantiVAR_015841632E → G.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0077241M → MLLHINPAYLFKLLHGFPPW IMPTDGNLGDKNFQMGKPGH REGATM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X87159 mRNA. Translation: CAA60632.1.
L36593 mRNA. Translation: AAA75459.1.
AJ005383
, AJ005384, AJ005385, AJ005386, AJ005387, AJ005388, AJ005389, AJ005390, AJ005391, AJ005392, AJ005393 Genomic DNA. Translation: CAA06508.2.
FJ515831 Genomic DNA. Translation: ACS13723.1.
BC036352 mRNA. Translation: AAH36352.2.
AC130452 Genomic DNA. No translation available.
AF260226 mRNA. Translation: AAK49394.1.
U16023 Genomic DNA. Translation: AAA67036.1.
CCDSiCCDS10609.1. [P51168-1]
PIRiI51915.
RefSeqiNP_000327.2. NM_000336.2. [P51168-1]
UniGeneiHs.414614.

Genome annotation databases

EnsembliENST00000307331; ENSP00000302874; ENSG00000168447. [P51168-2]
ENST00000343070; ENSP00000345751; ENSG00000168447. [P51168-1]
GeneIDi6338.
KEGGihsa:6338.
UCSCiuc002dln.3. human. [P51168-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X87159 mRNA. Translation: CAA60632.1.
L36593 mRNA. Translation: AAA75459.1.
AJ005383
, AJ005384, AJ005385, AJ005386, AJ005387, AJ005388, AJ005389, AJ005390, AJ005391, AJ005392, AJ005393 Genomic DNA. Translation: CAA06508.2.
FJ515831 Genomic DNA. Translation: ACS13723.1.
BC036352 mRNA. Translation: AAH36352.2.
AC130452 Genomic DNA. No translation available.
AF260226 mRNA. Translation: AAK49394.1.
U16023 Genomic DNA. Translation: AAA67036.1.
CCDSiCCDS10609.1. [P51168-1]
PIRiI51915.
RefSeqiNP_000327.2. NM_000336.2. [P51168-1]
UniGeneiHs.414614.

3D structure databases

ProteinModelPortaliP51168.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112242. 18 interactors.
IntActiP51168. 4 interactors.
MINTiMINT-198733.
STRINGi9606.ENSP00000345751.

Chemistry databases

ChEMBLiCHEMBL2107836.
DrugBankiDB00594. Amiloride.
DB00384. Triamterene.

Protein family/group databases

TCDBi1.A.6.1.1. the epithelial na(+) channel (enac) family.

PTM databases

iPTMnetiP51168.
PhosphoSitePlusiP51168.

Polymorphism and mutation databases

BioMutaiSCNN1B.
DMDMi8928561.

Proteomic databases

PaxDbiP51168.
PeptideAtlasiP51168.
PRIDEiP51168.

Protocols and materials databases

DNASUi6338.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307331; ENSP00000302874; ENSG00000168447. [P51168-2]
ENST00000343070; ENSP00000345751; ENSG00000168447. [P51168-1]
GeneIDi6338.
KEGGihsa:6338.
UCSCiuc002dln.3. human. [P51168-1]

Organism-specific databases

CTDi6338.
DisGeNETi6338.
GeneCardsiSCNN1B.
H-InvDBHIX0026943.
HGNCiHGNC:10600. SCNN1B.
HPAiHPA015612.
MalaCardsiSCNN1B.
MIMi177200. phenotype.
211400. phenotype.
264350. phenotype.
600760. gene.
neXtProtiNX_P51168.
OpenTargetsiENSG00000168447.
Orphaneti171876. Generalized pseudohypoaldosteronism type 1.
60033. Idiopathic bronchiectasis.
526. Liddle syndrome.
PharmGKBiPA306.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4294. Eukaryota.
ENOG410ZNFK. LUCA.
GeneTreeiENSGT00760000119120.
HOGENOMiHOG000236286.
HOVERGENiHBG058435.
InParanoidiP51168.
KOiK04825.
OMAiCNDTQYK.
OrthoDBiEOG091G0KW6.
PhylomeDBiP51168.
TreeFamiTF330663.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168447-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
SIGNORiP51168.

Miscellaneous databases

GeneWikiiSCNN1B.
GenomeRNAii6338.
PROiP51168.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168447.
CleanExiHS_SCNN1B.
ExpressionAtlasiP51168. baseline and differential.
GenevisibleiP51168. HS.

Family and domain databases

InterProiIPR004724. ENaC.
IPR001873. Na+channel_ASC.
IPR020903. Na+channel_ASC_CS.
[Graphical view]
PANTHERiPTHR11690. PTHR11690. 2 hits.
PfamiPF00858. ASC. 1 hit.
[Graphical view]
PRINTSiPR01078. AMINACHANNEL.
TIGRFAMsiTIGR00859. ENaC. 1 hit.
PROSITEiPS01206. ASC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSCNNB_HUMAN
AccessioniPrimary (citable) accession number: P51168
Secondary accession number(s): C5HTZ2
, O60891, Q96KG2, Q9UJ32, Q9UMU5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 1, 2000
Last modified: November 30, 2016
This is version 172 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.