Q9BXP2 (S12A9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 88.
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: Solute carrier family 12 member 9 Alternative name(s): Cation-chloride cotransporter 6 Short name=hCCC6 Cation-chloride cotransporter-interacting protein 1 Short name=CCC-interacting protein 1 Short name=hCIP1 Potassium-chloride transporter 9 WO3.3 | ||||
| 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 | 914 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function. Ref.1 |
| Subunit structure | Interacts with SLC12A1. Ref.1 |
| Subcellular location | |
| Tissue specificity | Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart. |
| Sequence similarities | Belongs to the SLC12A transporter family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | integral to membrane Traceable author statement Ref.1. Source: ProtInc plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | cation:chloride symporter activity Traceable author statement Ref.1. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BXP2-1) 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: Q9BXP2-2) The sequence of this isoform differs from the canonical sequence as follows: 61-149: Missing. 620-627: GGMKPNTL → ESNSHPLP 628-914: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9BXP2-3) The sequence of this isoform differs from the canonical sequence as follows: 620-627: GGMKPNTL → ESNSHPLP 628-914: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9BXP2-4) The sequence of this isoform differs from the canonical sequence as follows: 620-631: GGMKPNTLVLGF → ESGTLLPWGFRS 632-914: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 914 | 914 | Solute carrier family 12 member 9 | PRO_0000331415 | |||||
Regions | |||||||||
| Topological domain | 1 – 36 | 36 | Cytoplasmic Potential | ||||||
| Transmembrane | 37 – 57 | 21 | Helical; Potential | ||||||
| Topological domain | 58 – 72 | 15 | Extracellular Potential | ||||||
| Transmembrane | 73 – 93 | 21 | Helical; Potential | ||||||
| Topological domain | 94 – 119 | 26 | Cytoplasmic Potential | ||||||
| Transmembrane | 120 – 140 | 21 | Helical; Potential | ||||||
| Topological domain | 141 – 167 | 27 | Extracellular Potential | ||||||
| Transmembrane | 168 – 188 | 21 | Helical; Potential | ||||||
| Topological domain | 189 – 193 | 5 | Cytoplasmic Potential | ||||||
| Transmembrane | 194 – 214 | 21 | Helical; Potential | ||||||
| Topological domain | 215 – 262 | 48 | Extracellular Potential | ||||||
| Transmembrane | 263 – 283 | 21 | Helical; Potential | ||||||
| Topological domain | 284 – 297 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 298 – 318 | 21 | Helical; Potential | ||||||
| Topological domain | 319 – 338 | 20 | Extracellular Potential | ||||||
| Transmembrane | 339 – 359 | 21 | Helical; Potential | ||||||
| Topological domain | 360 – 390 | 31 | Cytoplasmic Potential | ||||||
| Transmembrane | 391 – 411 | 21 | Helical; Potential | ||||||
| Topological domain | 412 – 416 | 5 | Extracellular Potential | ||||||
| Transmembrane | 417 – 437 | 21 | Helical; Potential | ||||||
| Topological domain | 438 – 466 | 29 | Cytoplasmic Potential | ||||||
| Transmembrane | 467 – 487 | 21 | Helical; Potential | ||||||
| Topological domain | 488 – 740 | 253 | Extracellular Potential | ||||||
| Transmembrane | 741 – 761 | 21 | Helical; Potential | ||||||
| Topological domain | 762 – 914 | 153 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 228 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 243 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 61 – 149 | 89 | Missing in isoform 2. | VSP_033192 | |||||
| Alternative sequence | 620 – 631 | 12 | GGMKP…LVLGF → ESGTLLPWGFRS in isoform 4. | VSP_045591 | |||||
| Alternative sequence | 620 – 627 | 8 | GGMKPNTL → ESNSHPLP in isoform 2 and isoform 3. | VSP_033193 | |||||
| Alternative sequence | 628 – 914 | 287 | Missing in isoform 2 and isoform 3. | VSP_033194 | |||||
| Alternative sequence | 632 – 914 | 283 | Missing in isoform 4. | VSP_045592 | |||||
Experimental info | |||||||||
| Sequence conflict | 10 | 1 | A → T in BAH13476. Ref.4 | ||||||
| Sequence conflict | 222 | 1 | T → S in BAB40456. Ref.3 | ||||||
| Sequence conflict | 231 | 1 | S → A in BAB40456. Ref.3 | ||||||
| Sequence conflict | 269 | 1 | S → N in AAF88060. Ref.1 | ||||||
| Sequence conflict | 602 | 1 | L → F in AAF88060. Ref.1 | ||||||
| Sequence conflict | 857 | 1 | E → K in BAB40456. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and functional characterization of a cation-Cl-cotransporter-interacting protein." Caron L., Rousseau F., Gagnon E., Isenring P. J. Biol. Chem. 275:32027-32036(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SLC12A1. Tissue: Heart. |
| [2] | "Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5." Wilson M.D., Riemer C., Martindale D.W., Schnupf P., Boright A.P., Cheung T.L., Hardy D.M., Schwartz S., Scherer S.W., Tsui L.-C., Miller W., Koop B.F. Nucleic Acids Res. 29:1352-1365(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 3). |
| [3] | "Molecular cloning of human cation chloride cotransporter 6." Ishibashi K. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Synovium. |
| [5] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed] [Europe PMC] [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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF284422 mRNA. Translation: AAF88060.1. AF312032 Genomic DNA. Translation: AAK21008.1. AF312032 Genomic DNA. Translation: AAK21009.1. AB033284 mRNA. Translation: BAB40456.1. AK301411 mRNA. Translation: BAH13476.1. AC011895 Genomic DNA. No translation available. CH236956 Genomic DNA. Translation: EAL23818.1. CH471091 Genomic DNA. Translation: EAW76475.1. CH471091 Genomic DNA. Translation: EAW76476.1. CH471091 Genomic DNA. Translation: EAW76483.1. CH471091 Genomic DNA. Translation: EAW76480.1. CH471091 Genomic DNA. Translation: EAW76484.1. CH471091 Genomic DNA. Translation: EAW76485.1. BC000154 mRNA. Translation: AAH00154.1. |
| IPI | IPI00027911. IPI00387077. IPI00890771. IPI01011304. |
| RefSeq | NP_001254741.1. NM_001267812.1. NP_001254743.1. NM_001267814.1. NP_064631.2. NM_020246.3. |
| UniGene | Hs.521087. |
3D structure databases | |
| ProteinModelPortal | Q9BXP2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000275730. |
PTM databases | |
| PhosphoSite | Q9BXP2. |
Polymorphism databases | |
| DMDM | 74752435. |
Proteomic databases | |
| PaxDb | Q9BXP2. |
| PRIDE | Q9BXP2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000275729; ENSP00000275729; ENSG00000146828. ENST00000354161; ENSP00000275730; ENSG00000146828. ENST00000415287; ENSP00000413796; ENSG00000146828. ENST00000428758; ENSP00000408301; ENSG00000146828. ENST00000540482; ENSP00000443702; ENSG00000146828. |
| GeneID | 56996. |
| KEGG | hsa:56996. |
| UCSC | uc003uwp.3. human. uc003uwq.3. human. |
Organism-specific databases | |
| CTD | 56996. |
| GeneCards | GC07P100424. |
| H-InvDB | HIX0201124. |
| HGNC | HGNC:17435. SLC12A9. |
| neXtProt | NX_Q9BXP2. |
| PharmGKB | PA134921585. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0531. |
| HOVERGEN | HBG106223. |
| InParanoid | Q9BXP2. |
| KO | K14429. |
| OMA | GHFTGFN. |
| OrthoDB | EOG4B2SWJ. |
| PhylomeDB | Q9BXP2. |
Gene expression databases | |
| ArrayExpress | Q9BXP2. |
| Bgee | Q9BXP2. |
| CleanEx | HS_SLC12A9. |
| Genevestigator | Q9BXP2. |
Family and domain databases | |
| InterPro | IPR004841. AA-permease_dom. [Graphical view] |
| Pfam | PF00324. AA_permease. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SLC12A9. human. |
| GenomeRNAi | 56996. |
| NextBio | 62707. |
Entry information
| Entry name | S12A9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BXP2 Secondary accession number(s): B7Z740 Q9NQR5 | ||||||||
| Entry history |
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| 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 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| SIMILARITY comments Index of protein domains and families |

Clusters with
