Human Gene ATP11B (ENST00000323116.10) Description and Page Index
  Description: Homo sapiens ATPase phospholipid transporting 11B (putative) (ATP11B), mRNA. (from RefSeq NM_014616)
RefSeq Summary (NM_014616): P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.242189.1, SRR1803613.136294.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000323116.10/ ENSP00000321195.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000323116.10
Gencode Gene: ENSG00000058063.16
Transcript (Including UTRs)
   Position: hg38 chr3:182,793,504-182,921,629 Size: 128,126 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg38 chr3:182,793,760-182,918,104 Size: 124,345 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:182,793,504-182,921,629)mRNA (may differ from genome)Protein (1177 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AT11B_HUMAN
DESCRIPTION: RecName: Full=Probable phospholipid-transporting ATPase IF; EC=3.6.3.1; AltName: Full=ATPase IR; AltName: Full=ATPase class VI type 11B;
CATALYTIC ACTIVITY: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
SUBUNIT: Interacts with TMEM30A.
SUBCELLULAR LOCATION: Recycling endosome membrane; Multi-pass membrane protein. Early endosome. Endoplasmic reticulum. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B. In the presence of TMEM30A, mainly located in recycling endosomes.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
SEQUENCE CAUTION: Sequence=AAH10630.1; Type=Frameshift; Positions=884; Sequence=AAH42180.1; Type=Miscellaneous discrepancy; Note=Intron retention;

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.76 RPKM in Esophagus - Mucosa
Total median expression: 320.39 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -149.90256-0.586 Picture PostScript Text
3' UTR -821.903525-0.233 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
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR006539 - ATPase_P-typ_Plipid-transl
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF00122 - E1-E2 ATPase
PF00702 - haloacid dehalogenase-like hydrolase

ModBase Predicted Comparative 3D Structure on Q9Y2G3
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0004012 phospholipid-translocating ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015075 ion transmembrane transporter activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006869 lipid transport
GO:0015914 phospholipid transport
GO:0015917 aminophospholipid transport
GO:0034220 ion transmembrane transport
GO:0043312 neutrophil degranulation
GO:0045332 phospholipid translocation

Cellular Component:
GO:0005637 nuclear inner membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035577 azurophil granule membrane
GO:0055037 recycling endosome
GO:0055038 recycling endosome membrane


-  Descriptions from all associated GenBank mRNAs
  LP895456 - Sequence 320 from Patent EP3253886.
AK296750 - Homo sapiens cDNA FLJ60651 complete cds, highly similar to Probable phospholipid-transporting ATPase IF(EC 3.6.3.1).
AF156548 - Homo sapiens putative E1-E2 ATPase mRNA, partial cds.
AB527450 - Synthetic construct DNA, clone: pF1KB7354, Homo sapiens ATP11B gene for ATPase, class VI, type 11B, without stop codon, in Flexi system.
BC148558 - Synthetic construct Homo sapiens clone IMAGE:100015500, MGC:183063 ATPase, class VI, type 11B (ATP11B) mRNA, encodes complete protein.
BC042180 - Homo sapiens ATPase, class VI, type 11B, mRNA (cDNA clone IMAGE:5395206), complete cds.
JD127622 - Sequence 108646 from Patent EP1572962.
KJ902300 - Synthetic construct Homo sapiens clone ccsbBroadEn_11694 ATP11B gene, encodes complete protein.
AK304855 - Homo sapiens cDNA FLJ56374 complete cds, highly similar to Probable phospholipid-transporting ATPase IF(EC 3.6.3.1).
JD227444 - Sequence 208468 from Patent EP1572962.
AK093727 - Homo sapiens cDNA FLJ36408 fis, clone THYMU2010094, highly similar to Probable phospholipid-transporting ATPase IF (EC 3.6.3.1).
AX748279 - Sequence 1804 from Patent EP1308459.
AB023173 - Homo sapiens mRNA for KIAA0956 protein, partial cds.
BC010630 - Homo sapiens ATPase, class VI, type 11B, mRNA (cDNA clone IMAGE:3853179), partial cds.
BX537779 - Homo sapiens mRNA; cDNA DKFZp779H1459 (from clone DKFZp779H1459).
AL133061 - Homo sapiens mRNA; cDNA DKFZp434N1615 (from clone DKFZp434N1615); partial cds.
BC033880 - Homo sapiens ATPase, class VI, type 11B, mRNA (cDNA clone IMAGE:5548541), complete cds.
KJ902299 - Synthetic construct Homo sapiens clone ccsbBroadEn_11693 ATP11B gene, encodes complete protein.
DQ925668 - Homo sapiens clone 2-3 truncated ATPase 11B protein (ATP11B) mRNA, partial cds, alternatively spliced.
JD113153 - Sequence 94177 from Patent EP1572962.
JD277035 - Sequence 258059 from Patent EP1572962.
JD204587 - Sequence 185611 from Patent EP1572962.
JD304270 - Sequence 285294 from Patent EP1572962.
JD236049 - Sequence 217073 from Patent EP1572962.
JD302010 - Sequence 283034 from Patent EP1572962.
JD093756 - Sequence 74780 from Patent EP1572962.
JD305367 - Sequence 286391 from Patent EP1572962.
JD563807 - Sequence 544831 from Patent EP1572962.
JD315292 - Sequence 296316 from Patent EP1572962.
JD214232 - Sequence 195256 from Patent EP1572962.
JD549740 - Sequence 530764 from Patent EP1572962.
JD447494 - Sequence 428518 from Patent EP1572962.
JD347548 - Sequence 328572 from Patent EP1572962.
JD282325 - Sequence 263349 from Patent EP1572962.
JD088800 - Sequence 69824 from Patent EP1572962.
JD201968 - Sequence 182992 from Patent EP1572962.
JD166316 - Sequence 147340 from Patent EP1572962.
JD311439 - Sequence 292463 from Patent EP1572962.
JD162907 - Sequence 143931 from Patent EP1572962.
JD114755 - Sequence 95779 from Patent EP1572962.
JD321204 - Sequence 302228 from Patent EP1572962.
JD388622 - Sequence 369646 from Patent EP1572962.
JD174458 - Sequence 155482 from Patent EP1572962.
JD298173 - Sequence 279197 from Patent EP1572962.
JD258580 - Sequence 239604 from Patent EP1572962.
JD379219 - Sequence 360243 from Patent EP1572962.
JD502305 - Sequence 483329 from Patent EP1572962.
JD303205 - Sequence 284229 from Patent EP1572962.
JD265830 - Sequence 246854 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2G3 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-939763 P-type ATPases type IV transport external-facing APLs to internal side of the plasma membrane
R-HSA-947591 P-type ATPases type IV transport internal-facing APLs to external side of the plasma membrane
R-HSA-6798695 Neutrophil degranulation
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-168249 Innate Immune System
R-HSA-983712 Ion channel transport
R-HSA-168256 Immune System
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AT11B_HUMAN, ATPIF, ATPIR, KIAA0956, NM_014616, Q96FN1, Q9UKK7, Q9Y2G3, uc003flb.1, uc003flb.2, uc003flb.3, uc003flb.4, uc003flb.5
UCSC ID: uc003flb.5
RefSeq Accession: NM_014616
Protein: Q9Y2G3 (aka AT11B_HUMAN or A11B_HUMAN)
CCDS: CCDS33896.1

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