O60423 (AT8B3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 124.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Probable phospholipid-transporting ATPase IK EC=3.6.3.1 Alternative name(s): ATPase class I type 8B member 3 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1300 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Catalytic activity | ATP + H2O + phospholipid(side 1) = ADP + phosphate + phospholipid(side 2). |
| Subcellular location | |
| Tissue specificity | |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. [View classification] |
| Sequence caution | The sequence AAC17601.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAB71492.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Ligand | ATP-binding Magnesium Metal-binding Nucleotide-binding |
| Molecular function | Hydrolase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | binding of sperm to zona pellucida Inferred from electronic annotation. Source: Compara phospholipid translocationInferred from electronic annotation. Source: Compara |
| Cellular_component | acrosomal vesicle Inferred from electronic annotation. Source: Compara integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW cation-transporting ATPase activityInferred from electronic annotation. Source: InterPro magnesium ion bindingInferred from electronic annotation. Source: InterPro phospholipid-translocating ATPase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O60423-2) 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 2 (identifier: O60423-1) The sequence of this isoform differs from the canonical sequence as follows: 730-730: Q → QVYNEMEQDLR | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: O60423-3) The sequence of this isoform differs from the canonical sequence as follows: 1-53: Missing. 354-354: A → ADGYMFV 730-730: Q → QVYNEMEQDLR | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1300 | 1300 | Probable phospholipid-transporting ATPase IK | PRO_0000046367 | |||||
Regions | |||||||||
| Topological domain | 1 – 149 | 149 | Cytoplasmic Potential | ||||||
| Transmembrane | 150 – 171 | 22 | Helical; Potential | ||||||
| Topological domain | 172 – 177 | 6 | Extracellular Potential | ||||||
| Transmembrane | 178 – 197 | 20 | Helical; Potential | ||||||
| Topological domain | 198 – 381 | 184 | Cytoplasmic Potential | ||||||
| Transmembrane | 382 – 403 | 22 | Helical; Potential | ||||||
| Topological domain | 404 – 430 | 27 | Extracellular Potential | ||||||
| Transmembrane | 431 – 452 | 22 | Helical; Potential | ||||||
| Topological domain | 453 – 995 | 543 | Cytoplasmic Potential | ||||||
| Transmembrane | 996 – 1016 | 21 | Helical; Potential | ||||||
| Topological domain | 1017 – 1028 | 12 | Extracellular Potential | ||||||
| Transmembrane | 1029 – 1048 | 20 | Helical; Potential | ||||||
| Topological domain | 1049 – 1078 | 30 | Cytoplasmic Potential | ||||||
| Transmembrane | 1079 – 1100 | 22 | Helical; Potential | ||||||
| Topological domain | 1101 – 1112 | 12 | Extracellular Potential | ||||||
| Transmembrane | 1113 – 1135 | 23 | Helical; Potential | ||||||
| Topological domain | 1136 – 1141 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 1142 – 1162 | 21 | Helical; Potential | ||||||
| Topological domain | 1163 – 1182 | 20 | Extracellular Potential | ||||||
| Transmembrane | 1183 – 1207 | 25 | Helical; Potential | ||||||
| Topological domain | 1208 – 1300 | 93 | Cytoplasmic Potential | ||||||
Sites | |||||||||
| Active site | 495 | 1 | 4-aspartylphosphate intermediate By similarity | ||||||
| Metal binding | 939 | 1 | Magnesium By similarity | ||||||
| Metal binding | 943 | 1 | Magnesium By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 53 | 53 | Missing in isoform 3. | VSP_043554 | |||||
| Alternative sequence | 354 | 1 | A → ADGYMFV in isoform 3. | VSP_043555 | |||||
| Alternative sequence | 730 | 1 | Q → QVYNEMEQDLR in isoform 2 and isoform 3. | VSP_039716 | |||||
| Natural variant | 45 | 1 | G → R. Corresponds to variant rs7250872 [ dbSNP | Ensembl ]. | VAR_055544 | |||||
| Natural variant | 618 | 1 | V → I. Corresponds to variant rs8100856 [ dbSNP | Ensembl ]. | VAR_055545 | |||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body." Harris M.J., Arias I.M. Biochim. Biophys. Acta 1633:127-131(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY. |
| [2] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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 1). Tissue: Eye and Testis. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 968-1300. Tissue: Testis. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY302538 mRNA. Translation: AAQ19028.1. AC004755 Genomic DNA. Translation: AAC17601.1. Sequence problems. AC012615 Genomic DNA. No translation available. CH471139 Genomic DNA. Translation: EAW69455.1. AK057452 mRNA. Translation: BAB71492.1. Different initiation. BC035162 mRNA. Translation: AAH35162.3. |
| IPI | IPI00216974. IPI00237913. |
| RefSeq | NP_001171473.1. NM_001178002.2. NP_620168.1. NM_138813.3. |
| UniGene | Hs.306212. |
3D structure databases | |
| ProteinModelPortal | O60423. |
| SMR | O60423. Positions 869-1086. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000311336. |
PTM databases | |
| PhosphoSite | O60423. |
Proteomic databases | |
| PaxDb | O60423. |
| PRIDE | O60423. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000310127; ENSP00000311336; ENSG00000130270. ENST00000525591; ENSP00000437115; ENSG00000130270. ENST00000539485; ENSP00000443574; ENSG00000130270. |
| GeneID | 148229. |
| KEGG | hsa:148229. |
| UCSC | uc002ltw.3. human. |
Organism-specific databases | |
| CTD | 148229. |
| GeneCards | GC19M001733. |
| H-InvDB | HIX0202756. |
| HGNC | HGNC:13535. ATP8B3. |
| MIM | 605866. gene. |
| neXtProt | NX_O60423. |
| PharmGKB | PA25168. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0474. |
| HOGENOM | HOG000202528. |
| HOVERGEN | HBG050601. |
| InParanoid | O60423. |
| KO | K01530. |
| OMA | VLAQFCF. |
| OrthoDB | EOG43BMN2. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | O60423. |
| Bgee | O60423. |
| CleanEx | HS_ATP8B3. |
| Genevestigator | O60423. |
| GermOnline | ENSG00000130270. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.70.150.10. 2 hits. 3.40.1110.10. 1 hit. 3.40.50.1000. 2 hits. |
| InterPro | IPR023299. ATPase_P-typ_cyto_domN. IPR018303. ATPase_P-typ_P_site. IPR006539. ATPase_P-typ_Plipid-transp. IPR008250. ATPase_P-typ_transduc_dom_A. IPR001757. Cation_transp_P_typ_ATPase. IPR023214. HAD-like_dom. [Graphical view] |
| PANTHER | PTHR24092. PTHR24092. 1 hit. |
| Pfam | PF00122. E1-E2_ATPase. 1 hit. [Graphical view] |
| PRINTS | PR00119. CATATPASE. |
| SUPFAM | SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit. |
| TIGRFAMs | TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 1 hit. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ATP8B3. human. |
| GenomeRNAi | 148229. |
| NextBio | 85875. |
| SOURCE | Search... |
Entry information
| Entry name | AT8B3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60423 Secondary accession number(s): Q7Z485 Q96M22 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
