| Tag | Content |
|---|---|
| Uniprot ID | Q91V14; A2A5L0; Q3UHQ2; Q7TQC9; Q80TI5; Q9Z0M7; |
| Entrez ID | 57138 |
| Genbank protein ID | AAK56093.1; CAA09464.1; BAE27805.1; AAK56092.1; AAH54808.1; BAC65742.1; |
| Genbank nucleotide ID | NM_020333.2; XM_006499943.3; |
| Ensembl protein ID | ENSMUSP00000144623; ENSMUSP00000096690; |
| Ensembl nucleotide ID | ENSMUSG00000017740 |
| Gene name | Solute carrier family 12 member 5 |
| Gene symbol | Slc12a5 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20529123 |
| Functional description | Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition. Involved in the regulation of dendritic spine formation and maturation. |
| Sequence | MSRRFTVTSL PPAASAASAD PESRRHSVAD PRRLPREDVK GDGNPKESSP FINSTDTEKG 60 REYDGRNMAL FEEEMDTSPM VSSLLSGLAN YTNLPQGSRE HEEAENNEGG KKKPVQAPRM 120 GTFMGVYLPC LQNIFGVILF LRLTWVVGIA GIMESFCMVF ICCSCTMLTA ISMSAIATNG 180 VVPAGGSYYM ISRSLGPEFG GAVGLCFYLG TTFAGAMYIL GTIEILLAYL FPAMAIFKAE 240 DASGEAAAML NNMRVYGTCV LTCMATVVFV GVKYVNKFAL VFLGCVILSI LAIYAGVIKS 300 AFDPPNFPIC LLGNRTLSRH GFDVCAKLAW EGNETVTTRL WGLFCSSRLL NATCDEYFTR 360 NNVTEIQGIP GAASGLIKEN LWSSYLTKGV IVERRGMPSV GLADGTPVDM DHPYVFSDMT 420 SYFTLLVGIY FPSVTGIMAG SNRSGDLRDA QKSIPTGTIL AIATTSAVYI SSVVLFGACI 480 EGVVLRDKFG EAVNGNLVVG TLAWPSPWVI VIGSFFSTCG AGLQSLTGAP RLLQAISRDG 540 IVPFLQVFGH GKANGEPTWA LLLTACICEI GILIASLDEV APILSMFFLM CYMFVNLACA 600 VQTLLRTPNW RPRFRYYHWT LSFLGMSLCL ALMFICSWYY ALVAMLIAGL IYKYIEYRGA 660 EKEWGDGIRG LSLSAARYAL LRLEEGPPHT KNWRPQLLVL VRVDQDQNVV HPQLLSLTSQ 720 LKAGKGLTIV GSVLEGTFLD NHPQAQRAEE SIRRLMEAEK VKGFCQVVIS SNLRDGVSHL 780 IQSGGLGGLQ HNTVLVGWPR NWRQKEDHQT WRNFIELVRE TTAGHLALLV TKNVSMFPGN 840 PERFSEGSID VWWIVHDGGM LMLLPFLLRH HKVWRKCKMR IFTVAQMDDN SIQMKKDLTT 900 FLYHLRITAE VEVVEMHESD ISAYTYEKTL VMEQRSQILK QMHLTKNERE REIQSITDES 960 RGSIRRKNPA NPRLRLNVPE ETACDNEEKP EEEVQLIHDQ SAPSCPSSSP SPGEEPEGER 1020 ETDPEVHLTW TKDKSVAEKN KGPSPVSSEG IKDFFSMKPE WENLNQSNVR RMHTAVRLNE 1080 VIVNKSRDAK LVLLNMPGPP RNRNGDENYM EFLEVLTEQL DRVMLVRGGG REVITIYS 1138 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | SLC12A5 | 510157 | A8KC65 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | SLC12A5 | A0A452EYG1 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | SLC12A5 | 57468 | Q9H2X9 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Slc12a5 | 57138 | Q91V14 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | SLC12A5 | A0A2I3RM58 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | 100155991 | A0A4X1U3U5 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Slc12a5 | F1LNP4 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0008519 | ammonium transmembrane transporter activity | ISO |
| GO:0015108 | chloride transmembrane transporter activity | ISO |
| GO:0015379 | potassium:chloride symporter activity | ISO |
| GO:0015379 | potassium:chloride symporter activity | IMP |
| GO:0015379 | potassium:chloride symporter activity | IBA |
| GO:0019901 | protein kinase binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006811 | ion transport | ISO |
| GO:0006813 | potassium ion transport | ISO |
| GO:0006821 | chloride transport | ISO |
| GO:0006821 | chloride transport | IMP |
| GO:0006873 | cellular ion homeostasis | ISO |
| GO:0006884 | cell volume homeostasis | IBA |
| GO:0006971 | hypotonic response | ISO |
| GO:0007268 | chemical synaptic transmission | IMP |
| GO:0007268 | chemical synaptic transmission | IBA |
| GO:0007612 | learning | IMP |
| GO:0015696 | ammonium transport | ISO |
| GO:0030644 | cellular chloride ion homeostasis | ISO |
| GO:0035264 | multicellular organism growth | IMP |
| GO:0040040 | thermosensory behavior | IMP |
| GO:0042493 | response to drug | IMP |
| GO:0051452 | intracellular pH reduction | ISO |
| GO:0055064 | chloride ion homeostasis | IBA |
| GO:0055075 | potassium ion homeostasis | IBA |
| GO:0060996 | dendritic spine development | ISO |
| GO:0072488 | ammonium transmembrane transport | IEA |
| GO:1902476 | chloride transmembrane transport | IBA |
| GO:1990573 | potassium ion import across plasma membrane | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005623 | cell | IEA |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IDA |
| GO:0005887 | integral component of plasma membrane | IEA |
| GO:0016021 | integral component of membrane | ISO |
| GO:0032590 | dendrite membrane | ISO |
| GO:0043204 | perikaryon | ISO |
| GO:0045202 | synapse | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-382551 | Transport of small molecules | IEA |
| R-MMU-425393 | Transport of inorganic cations/anions and amino acids/oligopeptides | IEA |
| R-MMU-425407 | SLC-mediated transmembrane transport | IEA |
| R-MMU-426117 | Cation-coupled Chloride cotransporters | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-1003 | Cell membrane |
| KW-0966 | Cell projection |
| KW-0868 | Chloride |
| KW-0903 | Direct protein sequencing |
| KW-0325 | Glycoprotein |
| KW-0406 | Ion transport |
| KW-0472 | Membrane |
| KW-0597 | Phosphoprotein |
| KW-0630 | Potassium |
| KW-0633 | Potassium transport |
| KW-1185 | Reference proteome |
| KW-0769 | Symport |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0813 | Transport |