Q9UN42 (AT1B4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein ATP1B4

Alternative name(s):
X,K-ATPase subunit beta-m
X/potassium-transporting ATPase subunit beta-m

Gene names

Name:

ATP1B4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	357 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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. Ref.4
Subunit structure	Associates with a SMAD7-transcriptional complex. Interacts with SNW1 and TOR1AIP1 By similarity. According to Ref.4, 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. Ref.3 Ref.4
Tissue specificity	Highly expressed in skeletal muscle and at a lower level in heart. Ref.1
Sequence similarities	Belongs to the X(+)/potassium ATPases subunit beta family.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from direct assay Ref.4. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc nuclear inner membrane Inferred from direct assay Ref.4. Source: UniProtKB sodium:potassium-exchanging ATPase complex Inferred from electronic annotation. Source: InterPro
Molecular_function	monovalent inorganic cation transmembrane transporter activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform A (identifier: Q9UN42-1)

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.

Isoform B (identifier: Q9UN42-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 357	357	Protein ATP1B4		PRO_0000219122
Regions
	Topological domain	1 – 110	110	Nuclear Potential
	Transmembrane	111 – 131	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	132 – 357	226	Perinuclear space Potential
	Compositional bias	35 – 72	38	Glu-rich
Natural variations
	Alternative sequence	107 – 110	4	Missing in isoform B.		VSP_000351
	Natural variant	48	1	V → A. Corresponds to variant rs2072452 [ dbSNP | Ensembl ].		VAR_055535

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 94926EB1BB637ACA	FASTA	357	41,598
	10 20 30 40 50 60 MRRQLRSRRA PSFPYSYRYR LDDPDEANQN YLADEEEEAE EEARVTVVPK SEEEEEEEEK 70 80 90 100 110 120 EEEEEEEKEE EEGQGQPTGN AWWQKLQIMS EYLWDPERRM FLARTGQSWS LILLIYFFFY 130 140 150 160 170 180 ASLAAVITLC MYTLFLTISP YIPTFTERVK PPGVMIRPFA HSLNFNFNVS EPDTWQHYVI 190 200 210 220 230 240 SLNGFLQGYN DSLQEEMNVD CPPGQYFIQD GNEDEDKKAC QFKRSFLKNC SGLEDPTFGY 250 260 270 280 290 300 STGQPCILLK MNRIVGFRPE LGDPVKVSCK VQRGDENDIR SISYYPESAS FDLRYYPYYG 310 320 330 340 350 KLTHVNYTSP LVAMHFTDVV KNQAVPVQCQ LKGKGVINDV INDRFVGRVI FTLNIET
	Isoform B [UniParc]. Checksum: 393BEDAF2FD45D96	FASTA	353	41,109
	10 20 30 40 50 60 MRRQLRSRRA PSFPYSYRYR LDDPDEANQN YLADEEEEAE EEARVTVVPK SEEEEEEEEK 70 80 90 100 110 120 EEEEEEEKEE EEGQGQPTGN AWWQKLQIMS EYLWDPERRM FLARTGLILL IYFFFYASLA 130 140 150 160 170 180 AVITLCMYTL FLTISPYIPT FTERVKPPGV MIRPFAHSLN FNFNVSEPDT WQHYVISLNG 190 200 210 220 230 240 FLQGYNDSLQ EEMNVDCPPG QYFIQDGNED EDKKACQFKR SFLKNCSGLE DPTFGYSTGQ 250 260 270 280 290 300 PCILLKMNRI VGFRPELGDP VKVSCKVQRG DENDIRSISY YPESASFDLR YYPYYGKLTH 310 320 330 340 350 VNYTSPLVAM HFTDVVKNQA VPVQCQLKGK GVINDVINDR FVGRVIFTLN IET

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel gene of the X,K-ATPase beta-subunit family that is predominantly expressed in skeletal and heart muscles." Pestov N.B., Adams G., Shakhparonov M.I., Modyanov N.N. FEBS Lett. 456:243-248(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), TISSUE SPECIFICITY. Tissue: Skeletal muscle.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
[3]	"Accumulation of beta (m), a structural member of X,K-ATPase beta-subunit family, in nuclear envelopes of perinatal myocytes." Zhao H., Pestov N.B., Korneenko T.V., Shakhparonov M.I., Modyanov N.N. Am. J. Physiol. 286:C757-C767(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[4]	"Evolution of Na,K-ATPase betam-subunit into a coregulator of transcription in placental mammals." Pestov N.B., Ahmad N., Korneenko T.V., Zhao H., Radkov R., Schaer D., Roy S., Bibert S., Geering K., Modyanov N.N. Proc. Natl. Acad. Sci. U.S.A. 104:11215-11220(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF158383 mRNA. Translation: AAD49692.1. AF158384 mRNA. Translation: AAD49693.1. BC117227 mRNA. Translation: AAI17228.1.
IPI	IPI00013724. IPI00220387.
RefSeq	NP_001135919.1. NM_001142447.2. NP_036201.1. NM_012069.4.
UniGene	Hs.292599.
3D structure databases
ProteinModelPortal	Q9UN42.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000218008.
PTM databases
PhosphoSite	Q9UN42.
Polymorphism databases
DMDM	17367154.
Proteomic databases
PaxDb	Q9UN42.
PRIDE	Q9UN42.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000218008; ENSP00000218008; ENSG00000101892. ENST00000361319; ENSP00000355346; ENSG00000101892.
GeneID	23439.
KEGG	hsa:23439.
UCSC	uc004esq.3. human. uc004esr.3. human.
Organism-specific databases
CTD	23439.
GeneCards	GC0XP119495.
HGNC	HGNC:808. ATP1B4.
HPA	HPA044128.
neXtProt	NX_Q9UN42.
PharmGKB	PA410.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG259814.
HOGENOM	HOG000039248.
HOVERGEN	HBG050603.
InParanoid	Q9UN42.
KO	K01540.
OMA	PTGNAWW.
OrthoDB	EOG469QV9.
PhylomeDB	Q9UN42.
Gene expression databases
ArrayExpress	Q9UN42.
Bgee	Q9UN42.
CleanEx	HS_ATP1B4.
Genevestigator	Q9UN42.
GermOnline	ENSG00000101892. Homo sapiens.
Family and domain databases
InterPro	IPR000402. Na/K_ATPase_sub_beta. [Graphical view]
PANTHER	PTHR11523. PTHR11523. 1 hit.
Pfam	PF00287. Na_K-ATPase. 1 hit. [Graphical view]
TIGRFAMs	TIGR01107. Na_K_ATPase_bet. 1 hit.
PROSITE	PS00390. ATPASE_NA_K_BETA_1. 1 hit. PS00391. ATPASE_NA_K_BETA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23439.
NextBio	45709.

Entry information

Entry name

AT1B4_HUMAN

Accession

Primary (citable) accession number: Q9UN42
Secondary accession number(s): Q17RR0, Q9UN41

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.