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Protein

Protein ATP1B4

Gene

ATP1B4

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

Functioni

May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit.1 Publication

GO - Molecular functioni

  • monovalent inorganic cation transmembrane transporter activity Source: ProtInc

GO - Biological processi

  • positive regulation of transcription from RNA polymerase II promoter Source: Reactome
  • regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101892-MONOMER.
ReactomeiR-HSA-2173796. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein ATP1B4
Alternative name(s):
X,K-ATPase subunit beta-m
X/potassium-transporting ATPase subunit beta-m
Gene namesi
Name:ATP1B4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:808. ATP1B4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 110NuclearSequence analysisAdd BLAST110
Transmembranei111 – 131Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini132 – 357Perinuclear spaceSequence analysisAdd BLAST226

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
  • nuclear envelope Source: Reactome
  • nuclear inner membrane Source: UniProtKB
  • sodium:potassium-exchanging ATPase complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000101892.
PharmGKBiPA410.

Polymorphism and mutation databases

BioMutaiATP1B4.
DMDMi17367154.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002191221 – 357Protein ATP1B4Add BLAST357

Proteomic databases

PaxDbiQ9UN42.
PeptideAtlasiQ9UN42.
PRIDEiQ9UN42.

PTM databases

PhosphoSitePlusiQ9UN42.

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle and at a lower level in heart.1 Publication

Gene expression databases

BgeeiENSG00000101892.
CleanExiHS_ATP1B4.
ExpressionAtlasiQ9UN42. baseline and differential.
GenevisibleiQ9UN42. HS.

Interactioni

Subunit structurei

Associates with a SMAD7-transcriptional complex. Interacts with SNW1 and TOR1AIP1 (By similarity). According to PubMed:17592128, does not associate with known Na,K-ATPase alpha-subunits.By similarity

Protein-protein interaction databases

BioGridi117007. 38 interactors.
DIPiDIP-60961N.
STRINGi9606.ENSP00000218008.

Structurei

3D structure databases

ProteinModelPortaliQ9UN42.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 72Glu-richAdd BLAST38

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3927. Eukaryota.
ENOG411150A. LUCA.
GeneTreeiENSGT00550000074530.
HOGENOMiHOG000039248.
HOVERGENiHBG050603.
InParanoidiQ9UN42.
KOiK01540.
OMAiPTGNAWW.
OrthoDBiEOG091G0DJ4.
PhylomeDBiQ9UN42.
TreeFamiTF314618.

Family and domain databases

InterProiIPR000402. Na/K_ATPase_sub_beta.
[Graphical view]
PANTHERiPTHR11523. PTHR11523. 1 hit.
PfamiPF00287. Na_K-ATPase. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01107. Na_K_ATPase_bet. 1 hit.
PROSITEiPS00390. ATPASE_NA_K_BETA_1. 1 hit.
PS00391. ATPASE_NA_K_BETA_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform A (identifier: Q9UN42-1) [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
MRRQLRSRRA PSFPYSYRYR LDDPDEANQN YLADEEEEAE EEARVTVVPK
60 70 80 90 100
SEEEEEEEEK EEEEEEEKEE EEGQGQPTGN AWWQKLQIMS EYLWDPERRM
110 120 130 140 150
FLARTGQSWS LILLIYFFFY ASLAAVITLC MYTLFLTISP YIPTFTERVK
160 170 180 190 200
PPGVMIRPFA HSLNFNFNVS EPDTWQHYVI SLNGFLQGYN DSLQEEMNVD
210 220 230 240 250
CPPGQYFIQD GNEDEDKKAC QFKRSFLKNC SGLEDPTFGY STGQPCILLK
260 270 280 290 300
MNRIVGFRPE LGDPVKVSCK VQRGDENDIR SISYYPESAS FDLRYYPYYG
310 320 330 340 350
KLTHVNYTSP LVAMHFTDVV KNQAVPVQCQ LKGKGVINDV INDRFVGRVI

FTLNIET
Length:357
Mass (Da):41,598
Last modified:May 1, 2000 - v1
Checksum:i94926EB1BB637ACA
GO
Isoform B (identifier: Q9UN42-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     107-110: Missing.

Show »
Length:353
Mass (Da):41,109
Checksum:i393BEDAF2FD45D96
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05553548V → A.Corresponds to variant rs2072452dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000351107 – 110Missing in isoform B. 1 Publication4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF158383 mRNA. Translation: AAD49692.1.
AF158384 mRNA. Translation: AAD49693.1.
BC117227 mRNA. Translation: AAI17228.1.
CCDSiCCDS14598.1. [Q9UN42-2]
CCDS48158.1. [Q9UN42-1]
RefSeqiNP_001135919.1. NM_001142447.2. [Q9UN42-1]
NP_036201.1. NM_012069.4. [Q9UN42-2]
UniGeneiHs.292599.

Genome annotation databases

EnsembliENST00000218008; ENSP00000218008; ENSG00000101892. [Q9UN42-1]
ENST00000361319; ENSP00000355346; ENSG00000101892. [Q9UN42-2]
GeneIDi23439.
KEGGihsa:23439.
UCSCiuc004esq.4. human. [Q9UN42-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF158383 mRNA. Translation: AAD49692.1.
AF158384 mRNA. Translation: AAD49693.1.
BC117227 mRNA. Translation: AAI17228.1.
CCDSiCCDS14598.1. [Q9UN42-2]
CCDS48158.1. [Q9UN42-1]
RefSeqiNP_001135919.1. NM_001142447.2. [Q9UN42-1]
NP_036201.1. NM_012069.4. [Q9UN42-2]
UniGeneiHs.292599.

3D structure databases

ProteinModelPortaliQ9UN42.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117007. 38 interactors.
DIPiDIP-60961N.
STRINGi9606.ENSP00000218008.

PTM databases

PhosphoSitePlusiQ9UN42.

Polymorphism and mutation databases

BioMutaiATP1B4.
DMDMi17367154.

Proteomic databases

PaxDbiQ9UN42.
PeptideAtlasiQ9UN42.
PRIDEiQ9UN42.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218008; ENSP00000218008; ENSG00000101892. [Q9UN42-1]
ENST00000361319; ENSP00000355346; ENSG00000101892. [Q9UN42-2]
GeneIDi23439.
KEGGihsa:23439.
UCSCiuc004esq.4. human. [Q9UN42-1]

Organism-specific databases

CTDi23439.
GeneCardsiATP1B4.
HGNCiHGNC:808. ATP1B4.
neXtProtiNX_Q9UN42.
OpenTargetsiENSG00000101892.
PharmGKBiPA410.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3927. Eukaryota.
ENOG411150A. LUCA.
GeneTreeiENSGT00550000074530.
HOGENOMiHOG000039248.
HOVERGENiHBG050603.
InParanoidiQ9UN42.
KOiK01540.
OMAiPTGNAWW.
OrthoDBiEOG091G0DJ4.
PhylomeDBiQ9UN42.
TreeFamiTF314618.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101892-MONOMER.
ReactomeiR-HSA-2173796. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.

Miscellaneous databases

GenomeRNAii23439.
PROiQ9UN42.

Gene expression databases

BgeeiENSG00000101892.
CleanExiHS_ATP1B4.
ExpressionAtlasiQ9UN42. baseline and differential.
GenevisibleiQ9UN42. HS.

Family and domain databases

InterProiIPR000402. Na/K_ATPase_sub_beta.
[Graphical view]
PANTHERiPTHR11523. PTHR11523. 1 hit.
PfamiPF00287. Na_K-ATPase. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01107. Na_K_ATPase_bet. 1 hit.
PROSITEiPS00390. ATPASE_NA_K_BETA_1. 1 hit.
PS00391. ATPASE_NA_K_BETA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT1B4_HUMAN
AccessioniPrimary (citable) accession number: Q9UN42
Secondary accession number(s): Q17RR0, Q9UN41
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 131 of the entry and version 1 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 X
    Human chromosome X: 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. 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.