Q9H310 (RHBG_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 85.
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: Ammonium transporter Rh type B Alternative name(s): Rhesus blood group family type B glycoprotein Short name=Rh family type B glycoprotein Short name=Rh type B glycoprotein | ||
| Gene names |
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| 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 | 441 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | |
| Subunit structure | Interacts (via C-terminus) with ANK2 and ANK3; required for targeting to the basolateral membrane. Ref.9 |
| Subcellular location | Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein Ref.1 Ref.9. |
| Tissue specificity | Specifically expressed in kidney. Also detected in liver and ovary. Ref.1 |
| Developmental stage | Fetally expressed by kidney and to a lower extent in liver. Ref.1 |
| Post-translational modification | N-glycosylated By similarity. Ref.1 |
| Sequence similarities | Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. [View classification] |
| Sequence caution | The sequence AAG01086.1 differs from that shown. Reason: Frameshift at position 425. The sequence AAL05978.1 differs from that shown. Reason: Frameshift at position 425. The sequence AAN34363.1 differs from that shown. Reason: Frameshift at position 425. The sequence AAN34364.1 differs from that shown. Reason: Frameshift at position 425. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H310-1) 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 2 (identifier: Q9H310-2) Also known as: RhBG-2A; The sequence of this isoform differs from the canonical sequence as follows: 1-30: Missing. 31-63: AVFVRYNHKTDAALWHRSNHSNADNEFYFRYPS → MNFTFATQKSLTLLPRLECNGAISAHCNLHLPG | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9H310-3) The sequence of this isoform differs from the canonical sequence as follows: 1-69: Missing. 175-175: G → GVRVWGGMESGVGGGQGQPLSQERGGGGGVLPLTPPPQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9H310-4) Also known as: RhBG-1A; The sequence of this isoform differs from the canonical sequence as follows: 1-69: Missing. | ||||||
| Isoform 5 (identifier: Q9H310-5) The sequence of this isoform differs from the canonical sequence as follows: 1-69: Missing. 372-441: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 441 | 441 | Ammonium transporter Rh type B | PRO_0000283597 | |||||
Regions | |||||||||
| Topological domain | 1 – 13 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 14 – 34 | 21 | Helical; Potential | ||||||
| Topological domain | 35 – 61 | 27 | Extracellular Potential | ||||||
| Transmembrane | 62 – 82 | 21 | Helical; Potential | ||||||
| Topological domain | 83 – 86 | 4 | Cytoplasmic Potential | ||||||
| Transmembrane | 87 – 107 | 21 | Helical; Potential | ||||||
| Topological domain | 108 – 124 | 17 | Extracellular Potential | ||||||
| Transmembrane | 125 – 145 | 21 | Helical; Potential | ||||||
| Topological domain | 146 – 149 | 4 | Cytoplasmic Potential | ||||||
| Transmembrane | 150 – 170 | 21 | Helical; Potential | ||||||
| Topological domain | 171 – 178 | 8 | Extracellular Potential | ||||||
| Transmembrane | 179 – 201 | 23 | Helical; Potential | ||||||
| Topological domain | 202 – 219 | 18 | Cytoplasmic Potential | ||||||
| Transmembrane | 220 – 240 | 21 | Helical; Potential | ||||||
| Topological domain | 241 – 251 | 11 | Extracellular Potential | ||||||
| Transmembrane | 252 – 272 | 21 | Helical; Potential | ||||||
| Topological domain | 273 – 282 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 283 – 303 | 21 | Helical; Potential | ||||||
| Topological domain | 304 | 1 | Extracellular Potential | ||||||
| Transmembrane | 305 – 325 | 21 | Helical; Potential | ||||||
| Topological domain | 326 – 346 | 21 | Cytoplasmic Potential | ||||||
| Transmembrane | 347 – 367 | 21 | Helical; Potential | ||||||
| Topological domain | 368 – 393 | 26 | Extracellular Potential | ||||||
| Transmembrane | 394 – 414 | 21 | Helical; Potential | ||||||
| Topological domain | 415 – 441 | 27 | Cytoplasmic Potential | ||||||
| Region | 416 – 424 | 9 | Interaction with ANK3 | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 49 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 69 | 69 | Missing in isoform 3, isoform 4 and isoform 5. | VSP_024340 | |||||
| Alternative sequence | 1 – 30 | 30 | Missing in isoform 2. | VSP_024341 | |||||
| Alternative sequence | 31 – 63 | 33 | AVFVR…FRYPS → MNFTFATQKSLTLLPRLECN GAISAHCNLHLPG in isoform 2. | VSP_024342 | |||||
| Alternative sequence | 175 | 1 | G → GVRVWGGMESGVGGGQGQPL SQERGGGGGVLPLTPPPQ in isoform 3. | VSP_024343 | |||||
| Alternative sequence | 372 – 441 | 70 | Missing in isoform 5. | VSP_037136 | |||||
| Natural variant | 76 | 1 | G → D. Ref.3 Ref.5 Corresponds to variant rs2245623 [ dbSNP | Ensembl ]. | VAR_031497 | |||||
| Natural variant | 143 | 1 | V → D. Ref.6 Corresponds to variant rs11586833 [ dbSNP | Ensembl ]. | VAR_031498 | |||||
| Natural variant | 315 | 1 | G → R. Ref.6 Corresponds to variant rs3748569 [ dbSNP | Ensembl ]. | VAR_031499 | |||||
| Natural variant | 339 | 1 | C → R. Corresponds to variant rs3748567 [ dbSNP | Ensembl ]. | VAR_053637 | |||||
Experimental info | |||||||||
| Mutagenesis | 419 | 1 | F → A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421. Ref.9 | ||||||
| Mutagenesis | 420 | 1 | L → A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421. Ref.9 | ||||||
| Mutagenesis | 421 | 1 | D → A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420. Ref.9 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Rh type B glycoprotein is a new member of the Rh superfamily and a putative ammonia transporter in mammals." Liu Z., Peng J., Mo R., Hui C.-C., Huang C.-H. J. Biol. Chem. 276:1424-1433(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, GLYCOSYLATION. Tissue: Liver. |
| [2] | "Characterization of alternatively spliced Rh type B glycoprotein (RhBG) isoforms in human tissues resulting from exonic inclusion of Alu repeat like sequences." Liu Z., Chen Y., Huang C.-H. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4). Tissue: Liver. |
| [3] | "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] (ISOFORM 5), VARIANT ASP-76. Tissue: Cerebellum and Liver. |
| [4] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASP-76. |
| [6] | "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 3), VARIANTS ASP-143 AND ARG-315. Tissue: Ovary. |
| [7] | "Electroneutral ammonium transport by basolateral rhesus B glycoprotein." Ludewig U. J. Physiol. (Lond.) 559:751-759(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [8] | "Human Rhesus B and Rhesus C glycoproteins: properties of facilitated ammonium transport in recombinant kidney cells." Zidi-Yahiaoui N., Mouro-Chanteloup I., D'Ambrosio A.-M., Lopez C., Gane P., Le van Kim C., Cartron J.-P., Colin Y., Ripoche P. Biochem. J. 391:33-40(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [9] | "The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells." Lopez C., Metral S., Eladari D., Drevensek S., Gane P., Chambrey R., Bennett V., Cartron J.-P., Le Van Kim C., Colin Y. J. Biol. Chem. 280:8221-8228(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-419; LEU-420 AND ASP-421, INTERACTION WITH ANK2 AND ANK3. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF193807 mRNA. Translation: AAG01086.1. Frameshift. AF219980 AF219979 Genomic DNA. Translation: AAL05978.1. Frameshift.AY139092 mRNA. Translation: AAN34363.1. Frameshift. AY139093 mRNA. Translation: AAN34364.1. Frameshift. AK054780 mRNA. Translation: BAG51423.1. AK290840 mRNA. Translation: BAF83529.1. AL589685, AL139130 Genomic DNA. Translation: CAI14175.1. AL589685, AL139130 Genomic DNA. Translation: CAI14176.1. AL589685, AL139130 Genomic DNA. Translation: CAI14177.1. AL139130, AL589685 Genomic DNA. Translation: CAI12178.1. AL139130, AL589685 Genomic DNA. Translation: CAI12179.1. AL139130, AL589685 Genomic DNA. Translation: CAI12180.1. CH471121 Genomic DNA. Translation: EAW52961.1. BC065218 mRNA. Translation: AAH65218.1. |
| IPI | IPI00006978. IPI00439781. IPI00925309. IPI00929353. IPI01012709. |
| RefSeq | NP_001243324.1. NM_001256395.1. NP_001243325.1. NM_001256396.1. NP_065140.3. NM_020407.4. |
| UniGene | Hs.131835. |
3D structure databases | |
| ProteinModelPortal | Q9H310. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H310. 1 interaction. |
| STRING | 9606.ENSP00000255013. |
Protein family/group databases | |
| TCDB | 1.A.11.4.2. ammonia transporter channel (Amt) family. |
Polymorphism databases | |
| DMDM | 209572666. |
Proteomic databases | |
| PaxDb | Q9H310. |
| PRIDE | Q9H310. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000255013; ENSP00000255013; ENSG00000132677. ENST00000368249; ENSP00000357232; ENSG00000132677. ENST00000400992; ENSP00000383777; ENSG00000132677. |
| GeneID | 57127. |
| KEGG | hsa:57127. |
| UCSC | uc001for.3. human. uc001fos.3. human. uc009wrz.3. human. |
Organism-specific databases | |
| CTD | 57127. |
| GeneCards | GC01P156339. |
| HGNC | HGNC:14572. RHBG. |
| MIM | 607079. gene. |
| neXtProt | NX_Q9H310. |
| PharmGKB | PA34385. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG276393. |
| HOVERGEN | HBG004374. |
| KO | K06580. |
| OrthoDB | EOG45DWPJ. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. REACT_20679. Amine compound SLC transporters. |
Gene expression databases | |
| ArrayExpress | Q9H310. |
| Bgee | Q9H310. |
| Genevestigator | Q9H310. |
Family and domain databases | |
| InterPro | IPR024041. NH4_transpt_AmtB-like_dom. IPR002229. RhesusRHD. [Graphical view] |
| Pfam | PF00909. Ammonium_transp. 1 hit. [Graphical view] |
| PRINTS | PR00342. RHESUSRHD. |
| SUPFAM | SSF111352. RH_like_transpt. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 57127. |
| NextBio | 63029. |
| SOURCE | Search... |
Entry information
| Entry name | RHBG_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H310 Secondary accession number(s): A8K475 Q6YJI3 | ||||||||
| 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 1 Human chromosome 1: 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
