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Q9BX84

- TRPM6_HUMAN

UniProt

Q9BX84 - TRPM6_HUMAN

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Protein
Transient receptor potential cation channel subfamily M member 6
Gene
TRPM6, CHAK2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 17801ATP By similarity
Binding sitei1804 – 18041ATP By similarity
Binding sitei1876 – 18761ATP By similarity
Metal bindingi1909 – 19091Zinc By similarity
Active sitei1923 – 19231Proton acceptor By similarity
Binding sitei1925 – 19251ATP By similarity
Binding sitei1933 – 19331ATP By similarity
Metal bindingi1966 – 19661Zinc By similarity
Metal bindingi1968 – 19681Zinc By similarity
Metal bindingi1972 – 19721Zinc By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1950 – 19567ATP By 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
Complete GO annotation...

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 741741Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei742 – 76221Helical; Reviewed prediction
Add
BLAST
Topological domaini763 – 84179Extracellular Reviewed prediction
Add
BLAST
Transmembranei842 – 86221Helical; Reviewed prediction
Add
BLAST
Topological domaini863 – 90543Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei906 – 92621Helical; Reviewed prediction
Add
BLAST
Topological domaini927 – 93913Extracellular Reviewed prediction
Add
BLAST
Transmembranei940 – 96021Helical; Reviewed prediction
Add
BLAST
Topological domaini961 – 97212Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei973 – 99321Helical; Reviewed prediction
Add
BLAST
Topological domaini994 – 101219Extracellular Reviewed prediction
Add
BLAST
Intramembranei1013 – 103321Pore-forming; Reviewed prediction
Add
BLAST
Topological domaini1034 – 104714Extracellular Reviewed prediction
Add
BLAST
Transmembranei1048 – 106821Helical; Reviewed prediction
Add
BLAST
Topological domaini1069 – 2022954Cytoplasmic Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411S → L in HOMG1; impairs heterodimer formation resulting in intracellular retention. 2 Publications
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 6
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1750 – 1980231Alpha-type protein kinase
Add
BLAST

Sequence similaritiesi

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. 2 Publications
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.
VSP_012069Add
BLAST
Alternative sequencei1 – 1111MKEQPVLERLQ → MTAPVT in isoform TRPM6c.
VSP_012070Add
BLAST
Alternative sequencei281 – 2811R → P in isoform M6-kinase 3.
VSP_012071
Alternative sequencei282 – 17341453Missing in isoform M6-kinase 3.
VSP_012072Add
BLAST
Alternative sequencei500 – 16661167Missing in isoform M6-kinase 2.
VSP_012073Add
BLAST
Alternative sequencei547 – 15951049Missing in isoform M6-kinase 1.
VSP_012074Add
BLAST
Alternative sequencei1926 – 194318GVGEN…PEVKQ → ALWFWDSMLKARLGGWRM in isoform TRPM6t.
VSP_012075Add
BLAST
Alternative sequencei1944 – 202279Missing in isoform TRPM6t.
VSP_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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 117 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

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