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A0AV02 (S12A8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 58. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 12 member 8
Alternative name(s):
Cation-chloride cotransporter 9
Gene names
Name:SLC12A8
Synonyms:CCC9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length714 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processIon transport
Potassium transport
Symport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   LigandChloride
Potassium
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processpotassium ion transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionsymporter 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 714714Solute carrier family 12 member 8
PRO_0000305287

Regions

Transmembrane37 – 6024Helical; Potential
Transmembrane72 – 9322Helical; Potential
Transmembrane99 – 11618Helical; Potential
Transmembrane123 – 14220Helical; Potential
Transmembrane154 – 17320Helical; Potential
Transmembrane185 – 20521Helical; Potential
Transmembrane233 – 25422Helical; Potential
Transmembrane266 – 28924Helical; Potential
Transmembrane309 – 33123Helical; Potential
Transmembrane360 – 37718Helical; Potential
Transmembrane383 – 40321Helical; Potential
Transmembrane593 – 61624Helical; Potential
Transmembrane622 – 64322Helical; Potential

Amino acid modifications

Glycosylation2211N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 406406Missing in isoform 5.
VSP_028327
Alternative sequence1 – 247247Missing in isoform 4.
VSP_028328
Alternative sequence1 – 199199Missing in isoform 3.
VSP_028329
Alternative sequence1 – 1717MTQMS…EAAQQ → MLPLERTITYRDMSSFIQVK NHFNVVNVTCVSYRSTCFRD MRRFIL in isoform 2.
VSP_028330
Alternative sequence200 – 24546GSFTH…FPAAT → MRRAAAGGLAVGQLPGEGPA GEEGAALGKAMRGGGCSPHS PSGCLS in isoform 3.
VSP_028331
Alternative sequence569 – 66193DFFLK…LPSCR → G in isoform 4.
VSP_028332
Natural variant1811R → C. Ref.1
Corresponds to variant rs2993631 [ dbSNP | Ensembl ].
VAR_035199
Natural variant2661P → L.
Corresponds to variant rs863642 [ dbSNP | Ensembl ].
VAR_035200
Natural variant2811I → V. Ref.1 Ref.2 Ref.6
Corresponds to variant rs621383 [ dbSNP | Ensembl ].
VAR_062148
Natural variant5411K → R.
Corresponds to variant rs6773138 [ dbSNP | Ensembl ].
VAR_035201
Natural variant6641R → Q. Ref.2
Corresponds to variant rs2981482 [ dbSNP | Ensembl ].
VAR_035202

Experimental info

Sequence conflict1111S → P in CAH18426. Ref.4
Sequence conflict3191S → P in AAM73657. Ref.1
Sequence conflict4331L → P in CAG33644. Ref.6
Sequence conflict4811E → D in BAB15571. Ref.3
Sequence conflict5121P → L in CAH18426. Ref.4
Sequence conflict5551L → P in CAD97969. Ref.4
Sequence conflict6981R → H in AAO49174. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 9B7C070C2FB04507

FASTA71478,223
        10         20         30         40         50         60 
MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM INIFGVVLFL 

        70         80         90        100        110        120 
RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS IGSGGVYSMI SSVLGGQTGG 

       130        140        150        160        170        180 
TIGLLYVFGQ CVAGAMYITG FAESISDLLG LGNIWAVRGI SVAVLLALLG INLAGVKWII 

       190        200        210        220        230        240 
RLQLLLLFLL AVSTLDFVVG SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF 

       250        260        270        280        290        300 
FPAATGVMAG FNMGGDLREP AASIPPGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL 

       310        320        330        340        350        360 
IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL GQGKGPNKTP 

       370        380        390        400        410        420 
VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY SYFSLSMCSC SLTPVPEPVL 

       430        440        450        460        470        480 
REGAEGLHCS EHLLLEKAPS YGSEGPAQRV LEGTLLEFTK DMDQLLQLTR KLESSQPRQG 

       490        500        510        520        530        540 
EGNRTPESQK RKSKKATKQT LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS 

       550        560        570        580        590        600 
KSEGTQPEGT YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL 

       610        620        630        640        650        660 
GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR WMRSLLLPSC 

       670        680        690        700        710 
RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH HSSLVNREQL MPHY 

« Hide

Isoform 2 [UniParc].

Checksum: 1707569985931744
Show »

FASTA74381,806
Isoform 3 [UniParc].

Checksum: 6107608E3AA3990C
Show »

FASTA51556,160
Isoform 4 [UniParc].

Checksum: BFE78B167C8FEB09
Show »

FASTA37541,059
Isoform 5 [UniParc].

Checksum: AF232C6971B2A80C
Show »

FASTA30834,799

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. expand/collapse author list , Roses A., Riley J., 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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., 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.
RefSeqNP_001182412.1. NM_001195483.1.
NP_078904.3. NM_024628.5.
UniGeneHs.658514.

3D structure databases

ProteinModelPortalA0AV02.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

TCDB2.A.30.3.4. the cation-chloride cotransporter (ccc) family.

PTM databases

PhosphoSiteA0AV02.

Proteomic databases

PaxDbA0AV02.
PRIDEA0AV02.

Protocols and materials databases

DNASU84561.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000393469; ENSP00000377112; ENSG00000221955. [A0AV02-1]
ENST00000423114; ENSP00000404243; ENSG00000221955. [A0AV02-2]
ENST00000430155; ENSP00000415713; ENSG00000221955. [A0AV02-3]
ENST00000469902; ENSP00000418783; ENSG00000221955. [A0AV02-1]
GeneID84561.
KEGGhsa:84561.
UCSCuc003eht.4. human. [A0AV02-3]
uc003ehv.4. human. [A0AV02-1]
uc003ehw.4. human. [A0AV02-2]

Organism-specific databases

CTD84561.
GeneCardsGC03M124832.
HGNCHGNC:15595. SLC12A8.
HPAHPA031123.
MIM611316. gene.
neXtProtNX_A0AV02.
PharmGKBPA37991.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0531.
HOVERGENHBG108430.
InParanoidA0AV02.
KOK14428.
OMAGRGPNKV.
OrthoDBEOG7VB2DV.
PhylomeDBA0AV02.
TreeFamTF313191.

Gene expression databases

ArrayExpressA0AV02.
BgeeA0AV02.
GenevestigatorA0AV02.

Family and domain databases

InterProIPR004841. AA-permease/SLC12A_dom.
[Graphical view]
PfamPF00324. AA_permease. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC12A8. human.
GeneWikiSLC12A8.
GenomeRNAi84561.
NextBio74454.
PROA0AV02.
SOURCESearch...

Entry information

Entry nameS12A8_HUMAN
AccessionPrimary (citable) accession number: A0AV02
Secondary accession number(s): C9JJJ2 expand/collapse secondary AC list , Q68D04, Q6I9Z2, Q6P4C0, Q7Z3A6, Q86WK0, Q8NFX9, Q8WUI3, Q96RF9, Q9H5P9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 58 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM