Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BX84

- TRPM6_HUMAN

UniProt

Q9BX84 - TRPM6_HUMAN

Protein

Transient receptor potential cation channel subfamily M member 6

Gene

TRPM6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (01 Jun 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region.

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei1780 – 17801ATPBy similarity
    Binding sitei1804 – 18041ATPBy similarity
    Binding sitei1876 – 18761ATPBy similarity
    Metal bindingi1909 – 19091ZincBy similarity
    Active sitei1923 – 19231Proton acceptorBy similarity
    Binding sitei1925 – 19251ATPBy similarity
    Binding sitei1933 – 19331ATPBy similarity
    Metal bindingi1966 – 19661ZincBy similarity
    Metal bindingi1968 – 19681ZincBy similarity
    Metal bindingi1972 – 19721ZincBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi1950 – 19567ATPBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. calcium channel activity Source: UniProtKB-KW
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: UniProtKB
    5. protein serine/threonine kinase activity Source: UniProtKB-KW

    GO - Biological processi

    1. calcium ion transmembrane transport Source: Reactome
    2. ion transmembrane transport Source: Reactome
    3. response to toxic substance Source: UniProtKB
    4. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Calcium channel, Ion channel, Kinase, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    ATP-binding, Calcium, Metal-binding, Nucleotide-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_169333. TRP channels.

    Protein family/group databases

    TCDBi1.A.4.5.8. the transient receptor potential ca(2+) channel (trp-cc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transient receptor potential cation channel subfamily M member 6 (EC:2.7.11.1)
    Alternative name(s):
    Channel kinase 2
    Melastatin-related TRP cation channel 6
    Gene namesi
    Name:TRPM6
    Synonyms:CHAK2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:17995. TRPM6.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. brush border membrane Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypomagnesemia 1 (HOMG1) [MIM:602014]: A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411S → L in HOMG1; impairs heterodimer formation resulting in intracellular retention. 1 Publication
    VAR_019963

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi1804 – 18041K → R: Abolishes kinase activity but does not affect expression levels or binding to GNB2L1. 1 Publication
    Mutagenesisi1851 – 18511T → A: Significantly decreases autophosphorylation. Does not alter binding to GNB2L1 but prevents inhibition by GNB2L1. 1 Publication
    Mutagenesisi1851 – 18511T → D: Significantly decreases autophosphorylation. Does not alter binding to GNB2L1 or inhibition by GNB2L1. 1 Publication

    Keywords - Diseasei

    Disease mutation, Primary hypomagnesemia

    Organism-specific databases

    MIMi602014. phenotype.
    Orphaneti30924. Primary hypomagnesemia with secondary hypocalcemia.
    PharmGKBiPA38479.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 20222022Transient receptor potential cation channel subfamily M member 6PRO_0000215329Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1851 – 18511Phosphothreonine; by autocatalysis1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9BX84.
    PaxDbiQ9BX84.
    PRIDEiQ9BX84.

    PTM databases

    PhosphoSiteiQ9BX84.

    Expressioni

    Tissue specificityi

    Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected only in testis and in NCI-H510A small cell lung carcinoma cells.

    Gene expression databases

    ArrayExpressiQ9BX84.
    BgeeiQ9BX84.
    CleanExiHS_TRPM6.
    GenevestigatoriQ9BX84.

    Organism-specific databases

    HPAiHPA007037.

    Interactioni

    Subunit structurei

    Forms heterodimers with TRPM7. TRPM6 requires the presence of TRPM7 to be targeted to the cell membrane (in HEK 293 cells). Interacts (via kinase domain) with GNB2L1/RACK1.2 Publications

    Protein-protein interaction databases

    IntActiQ9BX84. 3 interactions.
    MINTiMINT-6699468.
    STRINGi9606.ENSP00000354006.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BX84.
    SMRiQ9BX84. Positions 1174-1223, 1707-1986.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 741741CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini763 – 84179ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini863 – 90543CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini927 – 93913ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini961 – 97212CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini994 – 101219ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1034 – 104714ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1069 – 2022954CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei1013 – 103321Pore-formingSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei742 – 76221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei842 – 86221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei906 – 92621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei940 – 96021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei973 – 99321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1048 – 106821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1750 – 1980231Alpha-type protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.Curated
    Contains 1 alpha-type protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG253824.
    HOGENOMiHOG000230920.
    HOVERGENiHBG055663.
    KOiK04981.
    OrthoDBiEOG7NPFSC.
    PhylomeDBiQ9BX84.
    TreeFamiTF314204.

    Family and domain databases

    InterProiIPR011009. Kinase-like_dom.
    IPR004166. MHCK_EF2_kinase.
    IPR029597. TRPM6.
    [Graphical view]
    PANTHERiPTHR13800:SF15. PTHR13800:SF15. 1 hit.
    PfamiPF02816. Alpha_kinase. 1 hit.
    [Graphical view]
    SMARTiSM00811. Alpha_kinase. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS51158. ALPHA_KINASE. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform TRPM6a (identifier: Q9BX84-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MKEQPVLERL QSQKSWIKGV FDKRECSTII PSSKNPHRCT PVCQVCQNLI     50
    RCYCGRLIGD HAGIDYSWTI SAAKGKESEQ WSVEKHTTKS PTDTFGTINF 100
    QDGEHTHHAK YIRTSYDTKL DHLLHLMLKE WKMELPKLVI SVHGGIQNFT 150
    MPSKFKEIFS QGLVKAAETT GAWIITEGIN TGVSKHVGDA LKSHSSHSLR 200
    KIWTVGIPPW GVIENQRDLI GKDVVCLYQT LDNPLSKLTT LNSMHSHFIL 250
    SDDGTVGKYG NEMKLRRNLE KYLSLQKIHC RSRQGVPVVG LVVEGGPNVI 300
    LSVWETVKDK DPVVVCEGTG RAADLLAFTH KHLADEGMLR PQVKEEIICM 350
    IQNTFNFSLK QSKHLFQILM ECMVHRDCIT IFDADSEEQQ DLDLAILTAL 400
    LKGTNLSASE QLNLAMAWDR VDIAKKHILI YEQHWKPDAL EQAMSDALVM 450
    DRVDFVKLLI EYGVNLHRFL TIPRLEELYN TKQGPTNTLL HHLVQDVKQH 500
    TLLSGYRITL IDIGLVVEYL IGRAYRSNYT RKHFRALYNN LYRKYKHQRH 550
    SSGNRNESAE STLHSQFIRT AQPYKFKEKS IVLHKSRKKS KEQNVSDDPE 600
    STGFLYPYND LLVWAVLMKR QKMAMFFWQH GEEATVKAVI ACILYRAMAH 650
    EAKESHMVDD ASEELKNYSK QFGQLALDLL EKAFKQNERM AMTLLTYELR 700
    NWSNSTCLKL AVSGGLRPFV SHTCTQMLLT DMWMGRLKMR KNSWLKIIIS 750
    IILPPTILTL EFKSKAEMSH VPQSQDFQFM WYYSDQNASS SKESASVKEY 800
    DLERGHDEKL DENQHFGLES GHQHLPWTRK VYEFYSAPIV KFWFYTMAYL 850
    AFLMLFTYTV LVEMQPQPSV QEWLVSIYIF TNAIEVVREI CISEPGKFTQ 900
    KVKVWISEYW NLTETVAIGL FSAGFVLRWG DPPFHTAGRL IYCIDIIFWF 950
    SRLLDFFAVN QHAGPYVTMI AKMTANMFYI VIIMAIVLLS FGVARKAILS 1000
    PKEPPSWSLA RDIVFEPYWM IYGEVYAGEI DVCSSQPSCP PGSFLTPFLQ 1050
    AVYLFVQYII MVNLLIAFFN NVYLDMESIS NNLWKYNRYR YIMTYHEKPW 1100
    LPPPLILLSH VGLLLRRLCC HRAPHDQEEG DVGLKLYLSK EDLKKLHDFE 1150
    EQCVEKYFHE KMEDVNCSCE ERIRVTSERV TEMYFQLKEM NEKVSFIKDS 1200
    LLSLDSQVGH LQDLSALTVD TLKVLSAVDT LQEDEALLAK RKHSTCKKLP 1250
    HSWSNVICAE VLGSMEIAGE KKYQYYSMPS SLLRSLAGGR HPPRVQRGAL 1300
    LEITNSKREA TNVRNDQERQ ETQSSIVVSG VSPNRQAHSK YGQFLLVPSN 1350
    LKRVPFSAET VLPLSRPSVP DVLATEQDIQ TEVLVHLTGQ TPVVSDWASV 1400
    DEPKEKHEPI AHLLDGQDKA EQVLPTLSCT PEPMTMSSPL SQAKIMQTGG 1450
    GYVNWAFSEG DETGVFSIKK KWQTCLPSTC DSDSSRSEQH QKQAQDSSLS 1500
    DNSTRSAQSS ECSEVGPWLQ PNTSFWINPL RRYRPFARSH SFRFHKEEKL 1550
    MKICKIKNLS GSSEIGQGAW VKAKMLTKDR RLSKKKKNTQ GLQVPIITVN 1600
    ACSQSDQLNP EPGENSISEE EYSKNWFTVS KFSHTGVEPY IHQKMKTKEI 1650
    GQCAIQISDY LKQSQEDLSK NSLWNSRSTN LNRNSLLKSS IGVDKISASL 1700
    KSPQEPHHHY SAIERNNLMR LSQTIPFTPV QLFAGEEITV YRLEESSPLN 1750
    LDKSMSSWSQ RGRAAMIQVL SREEMDGGLR KAMRVVSTWS EDDILKPGQV 1800
    FIVKSFLPEV VRTWHKIFQE STVLHLCLRE IQQQRAAQKL IYTFNQVKPQ 1850
    TIPYTPRFLE VFLIYCHSAN QWLTIEKYMT GEFRKYNNNN GDEITPTNTL 1900
    EELMLAFSHW TYEYTRGELL VLDLQGVGEN LTDPSVIKPE VKQSRGMVFG 1950
    PANLGEDAIR NFIAKHHCNS CCRKLKLPDL KRNDYSPERI NSTFGLEIKI 2000
    ESAEEPPARE TGRNSPEDDM QL 2022
    Length:2,022
    Mass (Da):231,708
    Last modified:June 1, 2002 - v2
    Checksum:i59346B3BE3300466
    GO
    Isoform TRPM6b (identifier: Q9BX84-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: MKEQPVLERLQ → MIILSK

    Show »
    Length:2,017
    Mass (Da):231,041
    Checksum:iC96D328F3E9B2A9E
    GO
    Isoform TRPM6c (identifier: Q9BX84-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: MKEQPVLERLQ → MTAPVT

    Show »
    Length:2,017
    Mass (Da):230,956
    Checksum:i7F49198CADF3F64D
    GO
    Isoform TRPM6t (identifier: Q9BX84-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1926-1943: GVGENLTDPSVIKPEVKQ → ALWFWDSMLKARLGGWRM
         1944-2022: Missing.

    Show »
    Length:1,943
    Mass (Da):223,124
    Checksum:i15F59730C0F345EC
    GO
    Isoform M6-kinase 1 (identifier: Q9BX84-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         547-1595: Missing.

    Note: Lacks the ion channel region.

    Show »
    Length:973
    Mass (Da):111,301
    Checksum:i4B6503C01BF3F3B6
    GO
    Isoform M6-kinase 2 (identifier: Q9BX84-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         500-1666: Missing.

    Note: Lacks the ion channel region.

    Show »
    Length:855
    Mass (Da):97,520
    Checksum:i924C00E589E6FED0
    GO
    Isoform M6-kinase 3 (identifier: Q9BX84-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         281-281: R → P
         282-1734: Missing.

    Note: Lacks the ion channel region.

    Show »
    Length:569
    Mass (Da):65,083
    Checksum:i7BF7F1E5163459EF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751G → V in a lung adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_042387
    Natural varianti141 – 1411S → L in HOMG1; impairs heterodimer formation resulting in intracellular retention. 1 Publication
    VAR_019963
    Natural varianti338 – 3381M → I.1 Publication
    Corresponds to variant rs56155062 [ dbSNP | Ensembl ].
    VAR_042388
    Natural varianti948 – 9481F → L.
    Corresponds to variant rs13290391 [ dbSNP | Ensembl ].
    VAR_052380
    Natural varianti1007 – 10071W → C in a lung large cell carcinoma sample; somatic mutation. 1 Publication
    VAR_042389
    Natural varianti1071 – 10711N → D.
    Corresponds to variant rs2274922 [ dbSNP | Ensembl ].
    VAR_019964
    Natural varianti1243 – 12431H → R.1 Publication
    Corresponds to variant rs55694430 [ dbSNP | Ensembl ].
    VAR_042390
    Natural varianti1274 – 12741Q → R.1 Publication
    Corresponds to variant rs34608911 [ dbSNP | Ensembl ].
    VAR_042391
    Natural varianti1393 – 13931V → I.1 Publication
    Corresponds to variant rs3750425 [ dbSNP | Ensembl ].
    VAR_019965
    Natural varianti1584 – 15841K → E.1 Publication
    Corresponds to variant rs2274924 [ dbSNP | Ensembl ].
    VAR_019966
    Natural varianti1663 – 16631Q → R.1 Publication
    Corresponds to variant rs55679040 [ dbSNP | Ensembl ].
    VAR_042392
    Natural varianti1673 – 16731L → S.1 Publication
    Corresponds to variant rs56254742 [ dbSNP | Ensembl ].
    VAR_042393
    Natural varianti1724 – 17241T → I.1 Publication
    Corresponds to variant rs56290308 [ dbSNP | Ensembl ].
    VAR_042394

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1111MKEQPVLERLQ → MIILSK in isoform TRPM6b. 1 PublicationVSP_012069Add
    BLAST
    Alternative sequencei1 – 1111MKEQPVLERLQ → MTAPVT in isoform TRPM6c. 1 PublicationVSP_012070Add
    BLAST
    Alternative sequencei281 – 2811R → P in isoform M6-kinase 3. 1 PublicationVSP_012071
    Alternative sequencei282 – 17341453Missing in isoform M6-kinase 3. 1 PublicationVSP_012072Add
    BLAST
    Alternative sequencei500 – 16661167Missing in isoform M6-kinase 2. 1 PublicationVSP_012073Add
    BLAST
    Alternative sequencei547 – 15951049Missing in isoform M6-kinase 1. 1 PublicationVSP_012074Add
    BLAST
    Alternative sequencei1926 – 194318GVGEN…PEVKQ → ALWFWDSMLKARLGGWRM in isoform TRPM6t. 1 PublicationVSP_012075Add
    BLAST
    Alternative sequencei1944 – 202279Missing in isoform TRPM6t. 1 PublicationVSP_012076Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF350881 mRNA. Translation: AAK31202.2.
    AF448232 mRNA. Translation: AAM21562.1.
    AY333282 mRNA. Translation: AAR03487.1.
    AY333283 mRNA. Translation: AAR03488.1.
    AY333284 mRNA. Translation: AAR03489.1.
    AY333285 mRNA. Translation: AAR03490.1.
    AY333286 mRNA. Translation: AAR03491.1.
    AY333287 mRNA. Translation: AAR03492.1.
    AY333288 mRNA. Translation: AAR03493.1.
    AL354795 Genomic DNA. Translation: CAH70894.1.
    CCDSiCCDS55318.1. [Q9BX84-3]
    CCDS55319.1. [Q9BX84-2]
    CCDS6647.1. [Q9BX84-1]
    RefSeqiNP_001170781.1. NM_001177310.1. [Q9BX84-2]
    NP_001170782.1. NM_001177311.1. [Q9BX84-3]
    NP_060132.3. NM_017662.4. [Q9BX84-1]
    UniGeneiHs.272225.

    Genome annotation databases

    EnsembliENST00000360774; ENSP00000354006; ENSG00000119121. [Q9BX84-1]
    ENST00000361255; ENSP00000354962; ENSG00000119121. [Q9BX84-3]
    ENST00000449912; ENSP00000396672; ENSG00000119121. [Q9BX84-2]
    GeneIDi140803.
    KEGGihsa:140803.
    UCSCiuc004ajk.1. human. [Q9BX84-3]
    uc004ajl.1. human. [Q9BX84-1]
    uc010mpc.1. human. [Q9BX84-5]
    uc010mpd.1. human. [Q9BX84-6]
    uc010mpe.1. human. [Q9BX84-7]
    uc022bib.1. human. [Q9BX84-2]

    Polymorphism databases

    DMDMi56404951.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF350881 mRNA. Translation: AAK31202.2 .
    AF448232 mRNA. Translation: AAM21562.1 .
    AY333282 mRNA. Translation: AAR03487.1 .
    AY333283 mRNA. Translation: AAR03488.1 .
    AY333284 mRNA. Translation: AAR03489.1 .
    AY333285 mRNA. Translation: AAR03490.1 .
    AY333286 mRNA. Translation: AAR03491.1 .
    AY333287 mRNA. Translation: AAR03492.1 .
    AY333288 mRNA. Translation: AAR03493.1 .
    AL354795 Genomic DNA. Translation: CAH70894.1 .
    CCDSi CCDS55318.1. [Q9BX84-3 ]
    CCDS55319.1. [Q9BX84-2 ]
    CCDS6647.1. [Q9BX84-1 ]
    RefSeqi NP_001170781.1. NM_001177310.1. [Q9BX84-2 ]
    NP_001170782.1. NM_001177311.1. [Q9BX84-3 ]
    NP_060132.3. NM_017662.4. [Q9BX84-1 ]
    UniGenei Hs.272225.

    3D structure databases

    ProteinModelPortali Q9BX84.
    SMRi Q9BX84. Positions 1174-1223, 1707-1986.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9BX84. 3 interactions.
    MINTi MINT-6699468.
    STRINGi 9606.ENSP00000354006.

    Chemistry

    BindingDBi Q9BX84.
    ChEMBLi CHEMBL1628470.
    GuidetoPHARMACOLOGYi 498.

    Protein family/group databases

    TCDBi 1.A.4.5.8. the transient receptor potential ca(2+) channel (trp-cc) family.

    PTM databases

    PhosphoSitei Q9BX84.

    Polymorphism databases

    DMDMi 56404951.

    Proteomic databases

    MaxQBi Q9BX84.
    PaxDbi Q9BX84.
    PRIDEi Q9BX84.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360774 ; ENSP00000354006 ; ENSG00000119121 . [Q9BX84-1 ]
    ENST00000361255 ; ENSP00000354962 ; ENSG00000119121 . [Q9BX84-3 ]
    ENST00000449912 ; ENSP00000396672 ; ENSG00000119121 . [Q9BX84-2 ]
    GeneIDi 140803.
    KEGGi hsa:140803.
    UCSCi uc004ajk.1. human. [Q9BX84-3 ]
    uc004ajl.1. human. [Q9BX84-1 ]
    uc010mpc.1. human. [Q9BX84-5 ]
    uc010mpd.1. human. [Q9BX84-6 ]
    uc010mpe.1. human. [Q9BX84-7 ]
    uc022bib.1. human. [Q9BX84-2 ]

    Organism-specific databases

    CTDi 140803.
    GeneCardsi GC09M077337.
    H-InvDB HIX0008102.
    HGNCi HGNC:17995. TRPM6.
    HPAi HPA007037.
    MIMi 602014. phenotype.
    607009. gene.
    neXtProti NX_Q9BX84.
    Orphaneti 30924. Primary hypomagnesemia with secondary hypocalcemia.
    PharmGKBi PA38479.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253824.
    HOGENOMi HOG000230920.
    HOVERGENi HBG055663.
    KOi K04981.
    OrthoDBi EOG7NPFSC.
    PhylomeDBi Q9BX84.
    TreeFami TF314204.

    Enzyme and pathway databases

    Reactomei REACT_169333. TRP channels.

    Miscellaneous databases

    GeneWikii TRPM6.
    GenomeRNAii 140803.
    NextBioi 84406.
    PROi Q9BX84.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BX84.
    Bgeei Q9BX84.
    CleanExi HS_TRPM6.
    Genevestigatori Q9BX84.

    Family and domain databases

    InterProi IPR011009. Kinase-like_dom.
    IPR004166. MHCK_EF2_kinase.
    IPR029597. TRPM6.
    [Graphical view ]
    PANTHERi PTHR13800:SF15. PTHR13800:SF15. 1 hit.
    Pfami PF02816. Alpha_kinase. 1 hit.
    [Graphical view ]
    SMARTi SM00811. Alpha_kinase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS51158. ALPHA_KINASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Novel type of signaling molecules: protein kinases covalently linked to ion channels."
      Riazanova L.V., Pavur K.S., Petrov A.N., Dorovkov M.V., Riazanov A.G.
      Mol. Biol. (Mosk.) 35:321-332(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM TRPM6A), CHARACTERIZATION.
      Tissue: Kidney.
    2. "Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family."
      Schlingmann K.P., Weber S., Peters M., Niemann Nejsum L.N., Vitzthum H., Klingel K., Kratz M., Haddad E., Ristoff E., Dinour D., Syrrou M., Nielsen S., Sassen M.C., Waldegger S., Seyberth H.W., Konrad M.
      Nat. Genet. 31:166-170(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM TRPM6A), VARIANT HOMG1 LEU-141.
      Tissue: Kidney and Small intestine.
    3. "Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia."
      Chubanov V., Waldegger S., Mederos y Schnitzler M., Vitzthum H., Sassen M.C., Seyberth H.W., Konrad M., Gudermann T.
      Proc. Natl. Acad. Sci. U.S.A. 101:2894-2899(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS TRPM6A; TRPM6B; TRPM6C; TRPM6T; M6-KINASE 1; M6-KINASE 2 AND M6-KINASE 3), CHARACTERIZATION OF VARIANT HOMG1 LEU-141, INTERACTION WITH TRPM7.
      Tissue: Lung cancer.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "RACK1 inhibits TRPM6 activity via phosphorylation of the fused alpha-kinase domain."
      Cao G., Thebault S., van der Wijst J., van der Kemp A., Lasonder E., Bindels R.J., Hoenderop J.G.
      Curr. Biol. 18:168-176(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GNB2L1, PHOSPHORYLATION AT THR-1851, MUTAGENESIS OF LYS-1804 AND THR-1851.
    6. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-75; ILE-338; CYS-1007; ARG-1243; ARG-1274; ILE-1393; GLU-1584; ARG-1663; SER-1673 AND ILE-1724.

    Entry informationi

    Entry nameiTRPM6_HUMAN
    AccessioniPrimary (citable) accession number: Q9BX84
    Secondary accession number(s): Q6VPR8
    , Q6VPR9, Q6VPS0, Q6VPS1, Q6VPS2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 7, 2004
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3