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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

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 – 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 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
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

Cell membrane 1 Publication; Multi-pass membrane protein

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

Cell membrane, 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.2 Publications
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
Natural varianti708 – 7081L → P in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071480
Natural varianti872 – 8721E → G in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071481
Natural varianti1053 – 10531Y → C in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071482
Natural varianti1143 – 11431L → P in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071483
Natural varianti1754 – 17541S → N in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071484

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

BgeeiQ9BX84.
CleanExiHS_TRPM6.
ExpressionAtlasiQ9BX84. baseline and differential.
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.
GeneTreeiENSGT00760000119127.
HOGENOMiHOG000230920.
HOVERGENiHBG055663.
InParanoidiQ9BX84.
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

        10         20         30         40         50
MKEQPVLERL QSQKSWIKGV FDKRECSTII PSSKNPHRCT PVCQVCQNLI
60 70 80 90 100
RCYCGRLIGD HAGIDYSWTI SAAKGKESEQ WSVEKHTTKS PTDTFGTINF
110 120 130 140 150
QDGEHTHHAK YIRTSYDTKL DHLLHLMLKE WKMELPKLVI SVHGGIQNFT
160 170 180 190 200
MPSKFKEIFS QGLVKAAETT GAWIITEGIN TGVSKHVGDA LKSHSSHSLR
210 220 230 240 250
KIWTVGIPPW GVIENQRDLI GKDVVCLYQT LDNPLSKLTT LNSMHSHFIL
260 270 280 290 300
SDDGTVGKYG NEMKLRRNLE KYLSLQKIHC RSRQGVPVVG LVVEGGPNVI
310 320 330 340 350
LSVWETVKDK DPVVVCEGTG RAADLLAFTH KHLADEGMLR PQVKEEIICM
360 370 380 390 400
IQNTFNFSLK QSKHLFQILM ECMVHRDCIT IFDADSEEQQ DLDLAILTAL
410 420 430 440 450
LKGTNLSASE QLNLAMAWDR VDIAKKHILI YEQHWKPDAL EQAMSDALVM
460 470 480 490 500
DRVDFVKLLI EYGVNLHRFL TIPRLEELYN TKQGPTNTLL HHLVQDVKQH
510 520 530 540 550
TLLSGYRITL IDIGLVVEYL IGRAYRSNYT RKHFRALYNN LYRKYKHQRH
560 570 580 590 600
SSGNRNESAE STLHSQFIRT AQPYKFKEKS IVLHKSRKKS KEQNVSDDPE
610 620 630 640 650
STGFLYPYND LLVWAVLMKR QKMAMFFWQH GEEATVKAVI ACILYRAMAH
660 670 680 690 700
EAKESHMVDD ASEELKNYSK QFGQLALDLL EKAFKQNERM AMTLLTYELR
710 720 730 740 750
NWSNSTCLKL AVSGGLRPFV SHTCTQMLLT DMWMGRLKMR KNSWLKIIIS
760 770 780 790 800
IILPPTILTL EFKSKAEMSH VPQSQDFQFM WYYSDQNASS SKESASVKEY
810 820 830 840 850
DLERGHDEKL DENQHFGLES GHQHLPWTRK VYEFYSAPIV KFWFYTMAYL
860 870 880 890 900
AFLMLFTYTV LVEMQPQPSV QEWLVSIYIF TNAIEVVREI CISEPGKFTQ
910 920 930 940 950
KVKVWISEYW NLTETVAIGL FSAGFVLRWG DPPFHTAGRL IYCIDIIFWF
960 970 980 990 1000
SRLLDFFAVN QHAGPYVTMI AKMTANMFYI VIIMAIVLLS FGVARKAILS
1010 1020 1030 1040 1050
PKEPPSWSLA RDIVFEPYWM IYGEVYAGEI DVCSSQPSCP PGSFLTPFLQ
1060 1070 1080 1090 1100
AVYLFVQYII MVNLLIAFFN NVYLDMESIS NNLWKYNRYR YIMTYHEKPW
1110 1120 1130 1140 1150
LPPPLILLSH VGLLLRRLCC HRAPHDQEEG DVGLKLYLSK EDLKKLHDFE
1160 1170 1180 1190 1200
EQCVEKYFHE KMEDVNCSCE ERIRVTSERV TEMYFQLKEM NEKVSFIKDS
1210 1220 1230 1240 1250
LLSLDSQVGH LQDLSALTVD TLKVLSAVDT LQEDEALLAK RKHSTCKKLP
1260 1270 1280 1290 1300
HSWSNVICAE VLGSMEIAGE KKYQYYSMPS SLLRSLAGGR HPPRVQRGAL
1310 1320 1330 1340 1350
LEITNSKREA TNVRNDQERQ ETQSSIVVSG VSPNRQAHSK YGQFLLVPSN
1360 1370 1380 1390 1400
LKRVPFSAET VLPLSRPSVP DVLATEQDIQ TEVLVHLTGQ TPVVSDWASV
1410 1420 1430 1440 1450
DEPKEKHEPI AHLLDGQDKA EQVLPTLSCT PEPMTMSSPL SQAKIMQTGG
1460 1470 1480 1490 1500
GYVNWAFSEG DETGVFSIKK KWQTCLPSTC DSDSSRSEQH QKQAQDSSLS
1510 1520 1530 1540 1550
DNSTRSAQSS ECSEVGPWLQ PNTSFWINPL RRYRPFARSH SFRFHKEEKL
1560 1570 1580 1590 1600
MKICKIKNLS GSSEIGQGAW VKAKMLTKDR RLSKKKKNTQ GLQVPIITVN
1610 1620 1630 1640 1650
ACSQSDQLNP EPGENSISEE EYSKNWFTVS KFSHTGVEPY IHQKMKTKEI
1660 1670 1680 1690 1700
GQCAIQISDY LKQSQEDLSK NSLWNSRSTN LNRNSLLKSS IGVDKISASL
1710 1720 1730 1740 1750
KSPQEPHHHY SAIERNNLMR LSQTIPFTPV QLFAGEEITV YRLEESSPLN
1760 1770 1780 1790 1800
LDKSMSSWSQ RGRAAMIQVL SREEMDGGLR KAMRVVSTWS EDDILKPGQV
1810 1820 1830 1840 1850
FIVKSFLPEV VRTWHKIFQE STVLHLCLRE IQQQRAAQKL IYTFNQVKPQ
1860 1870 1880 1890 1900
TIPYTPRFLE VFLIYCHSAN QWLTIEKYMT GEFRKYNNNN GDEITPTNTL
1910 1920 1930 1940 1950
EELMLAFSHW TYEYTRGELL VLDLQGVGEN LTDPSVIKPE VKQSRGMVFG
1960 1970 1980 1990 2000
PANLGEDAIR NFIAKHHCNS CCRKLKLPDL KRNDYSPERI NSTFGLEIKI
2010 2020
ESAEEPPARE TGRNSPEDDM QL
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 varianti708 – 7081L → P in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071480
Natural varianti872 – 8721E → G in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071481
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 varianti1053 – 10531Y → C in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071482
Natural varianti1071 – 10711N → D.
Corresponds to variant rs2274922 [ dbSNP | Ensembl ].
VAR_019964
Natural varianti1143 – 11431L → P in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071483
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 No effect on function or cell membrane localization. 2 Publications
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
Natural varianti1754 – 17541S → N in HOMG1; loss of function; no effect on cell membrane localization. 1 Publication
VAR_071484

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.
GeneTreei ENSGT00760000119127.
HOGENOMi HOG000230920.
HOVERGENi HBG055663.
InParanoidi Q9BX84.
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

Bgeei Q9BX84.
CleanExi HS_TRPM6.
ExpressionAtlasi Q9BX84. baseline and differential.
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.
  7. Cited for: VARIANTS HOMG1 PRO-708; GLY-872; CYS-1053; PRO-1143 AND ASN-1754, VARIANT ARG-1663, CHARACTERIZATION OF VARIANTS HOMG1 PRO-708; GLY-872; CYS-1053; PRO-1143 AND ASN-1754, CHARACTERIZATION OF VARIANT ARG-1663, SUBCELLULAR LOCATION.

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 29, 2014
This is version 119 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