Human Gene ATP1B4 (uc004esr.3) Description and Page Index
  Description: Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.
RefSeq Summary (NM_001142447): This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].
Transcript (Including UTRs)
   Position: hg19 chrX:119,495,940-119,517,104 Size: 21,165 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chrX:119,496,024-119,513,489 Size: 17,466 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:119,495,940-119,517,104)mRNA (may differ from genome)Protein (357 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
ReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein ATP1B4; AltName: Full=X,K-ATPase subunit beta-m; AltName: Full=X/potassium-transporting ATPase subunit beta-m;
FUNCTION: 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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus inner membrane; Single-pass type II membrane protein (By similarity). Note=Detected in nuclear envelops.
TISSUE SPECIFICITY: Highly expressed in skeletal muscle and at a lower level in heart.
SIMILARITY: Belongs to the X(+)/potassium ATPases subunit beta family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP1B4
CDC HuGE Published Literature: ATP1B4

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP1B4
Diseases sorted by gene-association score: kufor-rakeb syndrome (12), juvenile-onset parkinson disease (10), thyrotoxic periodic paralysis (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.59 RPKM in Muscle - Skeletal
Total median expression: 4.83 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.0084-0.238 Picture PostScript Text
3' UTR -1097.183615-0.304 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000402 - ATPase_P-typ_cation-exchng_bsu

Pfam Domains:
PF00287 - Sodium / potassium ATPase beta chain

ModBase Predicted Comparative 3D Structure on Q9UN42
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015077 monovalent inorganic cation transmembrane transporter activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0015672 monovalent inorganic cation transport
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0005887 integral component of plasma membrane
GO:0005890 sodium:potassium-exchanging ATPase complex
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  AK309999 - Homo sapiens cDNA, FLJ17041.
AF158383 - Homo sapiens X,K-ATPase beta-m subunit (ATP1B4) mRNA, alternatively spliced product A, complete cds.
AF158384 - Homo sapiens X,K-ATPase beta-m subunit (ATP1B4) mRNA, alternatively spliced product B, complete cds.
JD183933 - Sequence 164957 from Patent EP1572962.
JD092276 - Sequence 73300 from Patent EP1572962.
JD419654 - Sequence 400678 from Patent EP1572962.
BC117227 - Homo sapiens ATPase, (Na+)/K+ transporting, beta 4 polypeptide, mRNA (cDNA clone MGC:150836 IMAGE:40125778), complete cds.
BC143404 - Homo sapiens ATPase, (Na+)/K+ transporting, beta 4 polypeptide, mRNA (cDNA clone MGC:176928 IMAGE:9051911), complete cds.
BC143406 - Homo sapiens ATPase, (Na+)/K+ transporting, beta 4 polypeptide, mRNA (cDNA clone MGC:176930 IMAGE:9051913), complete cds.
BC143407 - Homo sapiens ATPase, (Na+)/K+ transporting, beta 4 polypeptide, mRNA (cDNA clone MGC:176931 IMAGE:9051914), complete cds.
HQ258396 - Synthetic construct Homo sapiens clone IMAGE:100072825 ATPase, (Na+)/K+ transporting, beta 4 polypeptide (ATP1B4) gene, encodes complete protein.
KJ893375 - Synthetic construct Homo sapiens clone ccsbBroadEn_02769 ATP1B4 gene, encodes complete protein.
JD077518 - Sequence 58542 from Patent EP1572962.
JD195188 - Sequence 176212 from Patent EP1572962.
JD273089 - Sequence 254113 from Patent EP1572962.
JD100314 - Sequence 81338 from Patent EP1572962.
JD502280 - Sequence 483304 from Patent EP1572962.
JD268978 - Sequence 250002 from Patent EP1572962.
JD527478 - Sequence 508502 from Patent EP1572962.
JD357653 - Sequence 338677 from Patent EP1572962.
JD080925 - Sequence 61949 from Patent EP1572962.
JD495981 - Sequence 477005 from Patent EP1572962.
JD532710 - Sequence 513734 from Patent EP1572962.
JD517986 - Sequence 499010 from Patent EP1572962.
JD220035 - Sequence 201059 from Patent EP1572962.
JD037063 - Sequence 18087 from Patent EP1572962.
JD409449 - Sequence 390473 from Patent EP1572962.
JD130076 - Sequence 111100 from Patent EP1572962.
JD429793 - Sequence 410817 from Patent EP1572962.
JD166018 - Sequence 147042 from Patent EP1572962.
JD372154 - Sequence 353178 from Patent EP1572962.
JD074325 - Sequence 55349 from Patent EP1572962.
JD246510 - Sequence 227534 from Patent EP1572962.
JD060281 - Sequence 41305 from Patent EP1572962.
JD065434 - Sequence 46458 from Patent EP1572962.
JD368700 - Sequence 349724 from Patent EP1572962.
JD450096 - Sequence 431120 from Patent EP1572962.
JD558602 - Sequence 539626 from Patent EP1572962.
JD519018 - Sequence 500042 from Patent EP1572962.
JD141902 - Sequence 122926 from Patent EP1572962.
JD365012 - Sequence 346036 from Patent EP1572962.
JD365013 - Sequence 346037 from Patent EP1572962.
JD267508 - Sequence 248532 from Patent EP1572962.
JD514058 - Sequence 495082 from Patent EP1572962.
JD514059 - Sequence 495083 from Patent EP1572962.
JD383770 - Sequence 364794 from Patent EP1572962.
JD070024 - Sequence 51048 from Patent EP1572962.
JD070025 - Sequence 51049 from Patent EP1572962.
JD451864 - Sequence 432888 from Patent EP1572962.
JD040821 - Sequence 21845 from Patent EP1572962.
JD324023 - Sequence 305047 from Patent EP1572962.
JD314033 - Sequence 295057 from Patent EP1572962.
JD171800 - Sequence 152824 from Patent EP1572962.
JD132529 - Sequence 113553 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04260 - Cardiac muscle contraction
hsa04960 - Aldosterone-regulated sodium reabsorption
hsa04964 - Proximal tubule bicarbonate reclamation

Reactome (by CSHL, EBI, and GO)

Protein Q9UN42 (Reactome details) participates in the following event(s):

R-HSA-5252001 ATP1B4 binds SNW1
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-212436 Generic Transcription Pathway
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-162582 Signal Transduction
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AT1B4_HUMAN, NM_001142447, NP_001135919, Q17RR0, Q9UN41, Q9UN42
UCSC ID: uc004esr.3
RefSeq Accession: NM_001142447
Protein: Q9UN42 (aka AT1B4_HUMAN or ATNE_HUMAN)
CCDS: CCDS14598.1, CCDS48158.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001142447.2
exon count: 8CDS single in 3' UTR: no RNA size: 4773
ORF size: 1074CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2348.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.