P48751 (B3A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 102.
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: Anion exchange protein 3 Short name=AE 3 Short name=Anion exchanger 3 Alternative name(s): CAE3/BAE3 Cardiac/brain band 3-like protein Neuronal band 3-like protein Solute carrier family 4 member 3 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1232 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl-/HCO3- exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl-. |
| Subcellular location | |
| Tissue specificity | Both BAE3 and CAE3 are expressed in failing ventricle. |
| Sequence similarities | Belongs to the anion exchanger (TC 2.A.31) family. [View classification] |
Ontologies
| Keywords | |
|---|---|
| Biological process | Anion exchange Antiport Ion transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Lipoprotein Palmitate Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | bicarbonate transport Traceable author statement. Source: Reactome |
| Cellular component | integral to plasma membrane Traceable author statement. Source: ProtInc membrane fractionTraceable author statement. Source: ProtInc |
| Molecular function | inorganic anion exchanger activity Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform BAE3 (identifier: P48751-1) 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 CAE3 (identifier: P48751-2) The sequence of this isoform differs from the canonical sequence as follows: 1-296: Missing. 297-299: SPS → MPA | ||||||
| Isoform 3 (identifier: P48751-3) The sequence of this isoform differs from the canonical sequence as follows: 203-203: S → SRPCSELRDGDGTTDLALSSPRLLCCLP |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1232 | 1232 | Anion exchange protein 3 | PRO_0000079219 | |||||
Regions | |||||||||
| Topological domain | 1 – 708 | 708 | Cytoplasmic | ||||||
| Transmembrane | 709 – 731 | 23 | Helical; Potential | ||||||
| Transmembrane | 737 – 774 | 38 | Helical; Potential | ||||||
| Transmembrane | 794 – 816 | 23 | Helical; Potential | ||||||
| Transmembrane | 826 – 847 | 22 | Helical; Potential | ||||||
| Transmembrane | 893 – 910 | 18 | Helical; Potential | ||||||
| Topological domain | 911 – 925 | 15 | Cytoplasmic Potential | ||||||
| Transmembrane | 926 – 946 | 21 | Helical; Potential | ||||||
| Transmembrane | 980 – 1002 | 23 | Helical; Potential | ||||||
| Transmembrane | 1028 – 1049 | 22 | Helical; Potential | ||||||
| Transmembrane | 1083 – 1128 | 46 | Helical; Potential | ||||||
| Transmembrane | 1155 – 1191 | 37 | Helical; Potential | ||||||
| Region | 709 – 1232 | 524 | Membrane (anion exchange) | ||||||
| Compositional bias | 136 – 149 | 14 | Poly-Glu | ||||||
| Compositional bias | 152 – 161 | 10 | Pro-rich | ||||||
| Compositional bias | 202 – 207 | 6 | Poly-Ser | ||||||
| Compositional bias | 308 – 313 | 6 | Poly-Lys | ||||||
| Compositional bias | 442 – 445 | 4 | Poly-Ser | ||||||
| Compositional bias | 1184 – 1187 | 4 | Poly-Leu | ||||||
Amino acid modifications | |||||||||
| Modified residue | 170 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 198 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 297 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 955 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 958 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 961 | 1 | Phosphoserine Ref.8 | ||||||
| Lipidation | 1165 | 1 | S-palmitoyl cysteine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 296 | 296 | Missing in isoform CAE3. | VSP_000462 | |||||
| Alternative sequence | 203 | 1 | S → SRPCSELRDGDGTTDLALSS PRLLCCLP in isoform 3. | VSP_038184 | |||||
| Alternative sequence | 297 – 299 | 3 | SPS → MPA in isoform CAE3. | VSP_000463 | |||||
| Natural variant | 157 | 1 | H → P. Ref.1 Ref.3 Ref.4 Ref.6 Ref.7 Corresponds to variant rs597306 [ dbSNP | Ensembl ]. | VAR_059081 | |||||
| Natural variant | 226 | 1 | S → L. Corresponds to variant rs36068948 [ dbSNP | Ensembl ]. | VAR_055536 | |||||
| Natural variant | 867 | 1 | D → A. Ref.1 Ref.4 Ref.6 Ref.7 Corresponds to variant rs635311 [ dbSNP | Ensembl ]. | VAR_059082 | |||||
Experimental info | |||||||||
| Sequence conflict | 118 | 1 | P → S in AAI46657. Ref.7 | ||||||
| Sequence conflict | 243 | 1 | N → S in AAI71760. Ref.7 | ||||||
| Sequence conflict | 250 | 1 | Q → H in AAI46657. Ref.7 | ||||||
| Sequence conflict | 304 | 1 | I → V in AAB05850. Ref.2 | ||||||
| Sequence conflict | 343 | 1 | R → P in AAB05850. Ref.2 | ||||||
| Sequence conflict | 466 | 1 | P → S in AAB05850. Ref.2 | ||||||
| Sequence conflict | 590 | 1 | Q → K in AAN34939. Ref.3 | ||||||
| Sequence conflict | 608 | 1 | S → G in AAB05850. Ref.2 | ||||||
| Sequence conflict | 702 | 1 | D → A in AAB05850. Ref.2 | ||||||
| Sequence conflict | 812 – 813 | 2 | GS → FI in AAB05850. Ref.2 | ||||||
| Sequence conflict | 822 | 1 | F → L in AAB05850. Ref.2 | ||||||
| Sequence conflict | 850 | 1 | H → R in AAN34939. Ref.3 | ||||||
| Sequence conflict | 860 – 863 | 4 | Missing in AAB05850. Ref.2 | ||||||
| Sequence conflict | 875 | 1 | S → C in AAB05850. Ref.2 | ||||||
| Sequence conflict | 885 – 887 | 3 | SPR → GPE in AAB05850. Ref.2 | ||||||
| Sequence conflict | 899 | 1 | L → P in AAB05850. Ref.2 | ||||||
| Sequence conflict | 953 | 1 | K → N in BAF82663. Ref.4 | ||||||
| Sequence conflict | 983 | 1 | P → L in AAI71760. Ref.7 | ||||||
| Sequence conflict | 1052 | 1 | R → H in BAF82663. Ref.4 | ||||||
| Sequence conflict | 1054 | 1 | V → I in AAN34939. Ref.3 | ||||||
| Sequence conflict | 1096 | 1 | I → M in AAB05850. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart." Yannoukakos D., Stuart-Tilley A., Fernandez H., Fey P., Duyk G., Alper S.L. Circ. Res. 75:603-614(1994) [PubMed: 7923606] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BAE3), VARIANTS PRO-157 AND ALA-867. Tissue: Heart. |
| [2] | "Cloning of the characterization of the human cardiac anion exchanger gene." Kudo S., Mattei M.-G., Bloor C.M., Fukuda M., Ranney H.M., Xu A. Submitted (NOV-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM CAE3). Tissue: Heart. |
| [3] | "Sequence of an alternative splice form of brain AE3." Mount D.B. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), VARIANT PRO-157. |
| [4] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM BAE3), VARIANTS PRO-157 AND ALA-867. Tissue: Hippocampus. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS PRO-157 AND ALA-867. |
| [7] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM BAE3), VARIANTS PRO-157 AND ALA-867. Tissue: Testis. |
| [8] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-955; THR-958 AND SER-961, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U05596 mRNA. Translation: AAA50748.1. L27213 mRNA. Translation: AAB05850.1. AY142112 mRNA. Translation: AAN34939.1. AK289974 mRNA. Translation: BAF82663.1. AC009955 Genomic DNA. No translation available. CH471063 Genomic DNA. Translation: EAW70778.1. BC136384 mRNA. Translation: AAI36385.1. BC146656 mRNA. Translation: AAI46657.1. BC171760 mRNA. Translation: AAI71760.1. |
| IPI | IPI00011159. IPI00401785. IPI00473049. |
| PIR | I38496. |
| RefSeq | NP_005061.2. NM_005070.3. NP_963868.2. NM_201574.2. |
| UniGene | Hs.1176. |
3D structure databases | |
| ProteinModelPortal | P48751. |
| SMR | P48751. Positions 319-643, 692-733. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | P48751. |
PTM databases | |
| PhosphoSite | P48751. |
Polymorphism databases | |
| DMDM | 308153414. |
Proteomic databases | |
| PRIDE | P48751. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000273063; ENSP00000273063; ENSG00000114923. ENST00000317151; ENSP00000314006; ENSG00000114923. ENST00000358055; ENSP00000350756; ENSG00000114923. ENST00000373760; ENSP00000362865; ENSG00000114923. ENST00000373762; ENSP00000362867; ENSG00000114923. |
| GeneID | 6508. |
| KEGG | hsa:6508. |
| UCSC | uc002vmo.2. human. uc002vmp.2. human. |
Organism-specific databases | |
| CTD | 6508. |
| GeneCards | GC02P220492. |
| H-InvDB | HIX0029888. |
| HGNC | HGNC:11029. SLC4A3. |
| HPA | HPA040315. |
| MIM | 106195. gene. |
| neXtProt | NX_P48751. |
| PharmGKB | PA35897. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06498. |
| HOVERGEN | HBG004326. |
| OMA | CCLPSSP. |
| OrthoDB | EOG4WDDB2. |
| PhylomeDB | P48751. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | P48751. |
| Bgee | P48751. |
| CleanEx | HS_SLC4A3. |
| Genevestigator | P48751. |
| GermOnline | ENSG00000114923. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001717. Anion_exchange. IPR002979. Anion_exchange_3. IPR018241. Anion_exchange_CS. IPR011531. HCO3_transpt_C. IPR013769. HCO3_transpt_cyt. IPR003020. HCO3_transpt_euk. IPR016152. PTrfase/Anion_transptr. [Graphical view] |
| Gene3D | G3DSA:3.40.1100.10. HCO3_transpt_cyt. 1 hit. |
| KO | K13856. |
| PANTHER | PTHR11453:SF15. Anion_exhngr3. 1 hit. PTHR11453. HCO3_transpt_euk. 1 hit. |
| Pfam | PF07565. Band_3_cyto. 1 hit. PF00955. HCO3_cotransp. 1 hit. [Graphical view] |
| PRINTS | PR00165. ANIONEXCHNGR. PR01189. ANIONEXHNGR3. PR01231. HCO3TRNSPORT. |
| SUPFAM | SSF55804. PTrfase/Anion_transptr. 1 hit. |
| TIGRFAMs | TIGR00834. Ae. 1 hit. |
| PROSITE | PS00219. ANION_EXCHANGER_1. 1 hit. PS00220. ANION_EXCHANGER_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | B3A3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P48751 Secondary accession number(s): A6H8L2 Q6YIQ9 | ||||||||
| 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 2 Human chromosome 2: 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