A0AV02 (S12A8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 50.
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 8 Alternative name(s): Cation-chloride cotransporter 9 | ||||
| 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 | 714 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation. Ref.1 |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Tissue specificity | Ubiquitous with very low level in normal skin. Ref.1 |
| Involvement in disease | SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5). |
| Sequence similarities | Belongs to the SLC12A transporter family. |
| Sequence caution | The sequence AAH20506.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAH63528.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAH63528.1 differs from that shown. Reason: Frameshift at position 569. The sequence AAK94307.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAM73657.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAD97969.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Potassium transport Symport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Ligand | Chloride Potassium |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | potassium ion transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | symporter activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: A0AV02-1) 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: A0AV02-2) The sequence of this isoform differs from the canonical sequence as follows: 1-17: MTQMSQVQELFHEAAQQ → MLPLERTITYRDMSSFIQVKNHFNVVNVTCVSYRSTCFRDMRRFIL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: A0AV02-3) The sequence of this isoform differs from the canonical sequence as follows: 1-199: Missing. 200-245: GSFTHLDPEH...VFGVFFPAAT → MRRAAAGGLA...SPHSPSGCLS | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: A0AV02-4) The sequence of this isoform differs from the canonical sequence as follows: 1-247: Missing. 569-661: DFFLKSRLQE...MRSLLLPSCR → G | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: A0AV02-5) The sequence of this isoform differs from the canonical sequence as follows: 1-406: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 714 | 714 | Solute carrier family 12 member 8 | PRO_0000305287 | |||||
Regions | |||||||||
| Transmembrane | 37 – 60 | 24 | Helical; Potential | ||||||
| Transmembrane | 72 – 93 | 22 | Helical; Potential | ||||||
| Transmembrane | 99 – 116 | 18 | Helical; Potential | ||||||
| Transmembrane | 123 – 142 | 20 | Helical; Potential | ||||||
| Transmembrane | 154 – 173 | 20 | Helical; Potential | ||||||
| Transmembrane | 185 – 205 | 21 | Helical; Potential | ||||||
| Transmembrane | 233 – 254 | 22 | Helical; Potential | ||||||
| Transmembrane | 266 – 289 | 24 | Helical; Potential | ||||||
| Transmembrane | 309 – 331 | 23 | Helical; Potential | ||||||
| Transmembrane | 360 – 377 | 18 | Helical; Potential | ||||||
| Transmembrane | 383 – 403 | 21 | Helical; Potential | ||||||
| Transmembrane | 593 – 616 | 24 | Helical; Potential | ||||||
| Transmembrane | 622 – 643 | 22 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 221 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 406 | 406 | Missing in isoform 5. | VSP_028327 | |||||
| Alternative sequence | 1 – 247 | 247 | Missing in isoform 4. | VSP_028328 | |||||
| Alternative sequence | 1 – 199 | 199 | Missing in isoform 3. | VSP_028329 | |||||
| Alternative sequence | 1 – 17 | 17 | MTQMS…EAAQQ → MLPLERTITYRDMSSFIQVK NHFNVVNVTCVSYRSTCFRD MRRFIL in isoform 2. | VSP_028330 | |||||
| Alternative sequence | 200 – 245 | 46 | GSFTH…FPAAT → MRRAAAGGLAVGQLPGEGPA GEEGAALGKAMRGGGCSPHS PSGCLS in isoform 3. | VSP_028331 | |||||
| Alternative sequence | 569 – 661 | 93 | DFFLK…LPSCR → G in isoform 4. | VSP_028332 | |||||
| Natural variant | 181 | 1 | R → C. Ref.1 Corresponds to variant rs2993631 [ dbSNP | Ensembl ]. | VAR_035199 | |||||
| Natural variant | 266 | 1 | P → L. Corresponds to variant rs863642 [ dbSNP | Ensembl ]. | VAR_035200 | |||||
| Natural variant | 281 | 1 | I → V. Ref.1 Ref.2 Ref.6 Corresponds to variant rs621383 [ dbSNP | Ensembl ]. | VAR_062148 | |||||
| Natural variant | 541 | 1 | K → R. Corresponds to variant rs6773138 [ dbSNP | Ensembl ]. | VAR_035201 | |||||
| Natural variant | 664 | 1 | R → Q. Ref.2 Corresponds to variant rs2981482 [ dbSNP | Ensembl ]. | VAR_035202 | |||||
Experimental info | |||||||||
| Sequence conflict | 111 | 1 | S → P in CAH18426. Ref.4 | ||||||
| Sequence conflict | 319 | 1 | S → P in AAM73657. Ref.1 | ||||||
| Sequence conflict | 433 | 1 | L → P in CAG33644. Ref.6 | ||||||
| Sequence conflict | 481 | 1 | E → D in BAB15571. Ref.3 | ||||||
| Sequence conflict | 512 | 1 | P → L in CAH18426. Ref.4 | ||||||
| Sequence conflict | 555 | 1 | L → P in CAD97969. Ref.4 | ||||||
| Sequence conflict | 698 | 1 | R → H in AAO49174. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map." Hewett D., Samuelsson L., Polding J., Enlund F., Smart D., Cantone K., See C.G., Chadha S., Inerot A., Enerback C., Montgomery D., Christodolou C., Robinson P., Matthews P., Plumpton M., Wahlstrom J., Swanbeck G., Martinsson T. Purvis I.Genomics 79:305-314(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUSCEPTIBILITY TO PSORIASIS, FUNCTION, TISSUE SPECIFICITY, VARIANTS CYS-181 AND VAL-281. |
| [2] | "Characterization of Homo sapiens CCC9, a novel member of the cation-chloride cotransporter gene family." Mount D.B. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-281 AND GLN-664. |
| [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). Tissue: Lung. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Endometrial adenocarcinoma and Salivary gland. |
| [5] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] (ISOFORMS 1 AND 4), VARIANT VAL-281. Tissue: Colon and Lymph. |
| [7] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 407-714 (ISOFORM 1). |
| [8] | "Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris." Hueffmeier U., Lascorz J., Traupe H., Boehm B., Schuermeier-Horst F., Staender M., Kelsch R., Baumann C., Kuester W., Burkhardt H., Reis A. J. Invest. Dermatol. 125:906-912(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUSCEPTIBILITY TO PSORIASIS. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF389851 Genomic DNA. Translation: AAK94307.1. Sequence problems. AF390442 mRNA. Translation: AAM73657.1. Different initiation. AF345197 mRNA. Translation: AAO49174.1. AK026841 mRNA. Translation: BAB15571.1. BX538023 mRNA. Translation: CAD97969.1. Different initiation. CR749632 mRNA. Translation: CAH18426.1. AC055752 Genomic DNA. No translation available. AC108688 Genomic DNA. No translation available. AC117488 Genomic DNA. No translation available. BC020506 mRNA. Translation: AAH20506.1. Different initiation. BC063528 mRNA. Translation: AAH63528.1. Sequence problems. BC126158 mRNA. Translation: AAI26159.1. BC126160 mRNA. Translation: AAI26161.1. CR457363 mRNA. Translation: CAG33644.1. |
| IPI | IPI00793608. IPI00855723. IPI00867607. IPI00867726. IPI00867740. |
| RefSeq | NP_001182412.1. NM_001195483.1. NP_078904.3. NM_024628.5. |
| UniGene | Hs.658514. |
3D structure databases | |
| ProteinModelPortal | A0AV02. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | A0AV02. |
Proteomic databases | |
| PaxDb | A0AV02. |
| PRIDE | A0AV02. |
Protocols and materials databases | |
| DNASU | 84561. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000393469; ENSP00000377112; ENSG00000221955. ENST00000423114; ENSP00000404243; ENSG00000221955. ENST00000430155; ENSP00000415713; ENSG00000221955. ENST00000469902; ENSP00000418783; ENSG00000221955. |
| GeneID | 84561. |
| KEGG | hsa:84561. |
| UCSC | uc003eht.4. human. uc003ehv.4. human. uc003ehw.4. human. |
Organism-specific databases | |
| CTD | 84561. |
| GeneCards | GC03M124832. |
| HGNC | HGNC:15595. SLC12A8. |
| HPA | HPA031123. |
| MIM | 611316. gene. |
| neXtProt | NX_A0AV02. |
| PharmGKB | PA37991. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0531. |
| HOVERGEN | HBG108430. |
| InParanoid | A0AV02. |
| KO | K14428. |
| OMA | GRGPNKV. |
| OrthoDB | EOG4X0MS2. |
| PhylomeDB | A0AV02. |
Gene expression databases | |
| ArrayExpress | A0AV02. |
| Bgee | A0AV02. |
| Genevestigator | A0AV02. |
Family and domain databases | |
| InterPro | IPR004841. AA-permease_dom. [Graphical view] |
| Pfam | PF00324. AA_permease. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SLC12A8. human. |
| GenomeRNAi | 84561. |
| NextBio | 74454. |
| SOURCE | Search... |
Entry information
| Entry name | S12A8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: A0AV02 Secondary accession number(s): C9JJJ2 Q9H5P9 | ||||||||
| 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 3 Human chromosome 3: 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
