UniProtKB - Q8TD43 (TRPM4_HUMAN)
Protein
Transient receptor potential cation channel subfamily M member 4
Gene
TRPM4
Organism
Homo sapiens (Human)
Status
Functioni
Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca2+, it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na+ > K+ > Cs+ > Li+), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca2+ oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca2+ overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. Plays a role in keratinocyte differentiation (PubMed:30528822).18 Publications
Activity regulationi
Gating is voltage-dependent and repressed by decavanadate (PubMed:15331675, PubMed:29211723). Calmodulin-binding confers the Ca2+ sensitivity (PubMed:15590641). ATP is able to restore Ca2+ sensitivity after desensitization (PubMed:15590641). ATP inhibits channel activity (PubMed:15331675, PubMed:14758478, PubMed:29211723). Phosphatidylinositol 4,5-bisphosphate (PIP2)-binding strongly enhances activity, by increasing the channel's Ca2+ sensitivity and shifting its voltage dependence of activation towards negative potentials (PubMed:16186107, PubMed:16424899). Activity is also enhanced by 3,5-bis(trifluoromethyl)pyrazole derivative (BTP2) (PubMed:16407466).7 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 171 | ATP; shared with neighboring subunitBy similarity | 1 | |
Binding sitei | 421 | ATPBy similarity | 1 | |
Binding sitei | 448 | ATP; via carbonyl oxygenBy similarity | 1 | |
Metal bindingi | 828 | CalciumCombined sources1 Publication | 1 | |
Metal bindingi | 831 | CalciumCombined sources1 Publication | 1 | |
Metal bindingi | 865 | CalciumCombined sources1 Publication | 1 | |
Metal bindingi | 868 | CalciumCombined sources1 Publication | 1 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- calcium activated cation channel activity Source: UniProtKB
- calcium ion binding Source: UniProtKB
- calmodulin binding Source: UniProtKB-KW
- cation channel activity Source: GO_Central
- identical protein binding Source: IntAct
- ligand-gated calcium channel activity Source: GO_Central
GO - Biological processi
- adaptive immune response Source: UniProtKB-KW
- calcium ion transmembrane transport Source: GO_Central
- calcium-mediated signaling Source: BHF-UCL
- cation transmembrane transport Source: GO_Central
- cellular response to ATP Source: Ensembl
- dendritic cell chemotaxis Source: UniProtKB
- divalent metal ion transport Source: GO_Central
- inorganic cation transmembrane transport Source: UniProtKB
- membrane depolarization during AV node cell action potential Source: BHF-UCL
- membrane depolarization during bundle of His cell action potential Source: BHF-UCL
- membrane depolarization during Purkinje myocyte cell action potential Source: BHF-UCL
- negative regulation of bone mineralization Source: BHF-UCL
- negative regulation of osteoblast differentiation Source: BHF-UCL
- positive regulation of adipose tissue development Source: BHF-UCL
- positive regulation of atrial cardiac muscle cell action potential Source: BHF-UCL
- positive regulation of canonical Wnt signaling pathway Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of cytosolic calcium ion concentration Source: BHF-UCL
- positive regulation of fat cell differentiation Source: BHF-UCL
- positive regulation of heart rate Source: BHF-UCL
- positive regulation of insulin secretion involved in cellular response to glucose stimulus Source: BHF-UCL
- positive regulation of regulation of vascular associated smooth muscle cell membrane depolarization Source: BHF-UCL
- positive regulation of vasoconstriction Source: BHF-UCL
- protein homotetramerization Source: UniProtKB
- protein sumoylation Source: UniProtKB
- regulation of heart rate by cardiac conduction Source: BHF-UCL
- regulation of T cell cytokine production Source: UniProtKB
- regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
- sodium ion import across plasma membrane Source: BHF-UCL
- vasoconstriction Source: InterPro
Keywordsi
Molecular function | Calmodulin-binding, Ion channel |
Biological process | Adaptive immunity, Immunity, Ion transport, Transport |
Ligand | ATP-binding, Calcium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8TD43 |
Reactomei | R-HSA-3295583, TRP channels |
SIGNORi | Q8TD43 |
Protein family/group databases
TCDBi | 1.A.4.5.4, the transient receptor potential ca(2+) channel (trp-cc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Transient receptor potential cation channel subfamily M member 4Short name: hTRPM4 Alternative name(s): Calcium-activated non-selective cation channel 1 Long transient receptor potential channel 4 Short name: LTrpC-4 Short name: LTrpC4 Melastatin-4 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000130529.15 |
HGNCi | HGNC:17993, TRPM4 |
MIMi | 606936, gene |
neXtProti | NX_Q8TD43 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Multi-pass membrane protein 2 Publications
Golgi apparatus
- Golgi apparatus 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Plasma membrane
- Cell membrane 1 Publication
Golgi apparatus
Endoplasmic reticulum
Cytosol
- cytosol Source: BHF-UCL
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
- spanning component of plasma membrane Source: UniProtKB
Other locations
- neuronal cell body Source: BHF-UCL
- sodium channel complex Source: BHF-UCL
- spanning component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 782 | Cytoplasmic2 PublicationsAdd BLAST | 782 | |
Transmembranei | 783 – 803 | Helical2 PublicationsAdd BLAST | 21 | |
Topological domaini | 804 – 814 | Extracellular2 PublicationsAdd BLAST | 11 | |
Transmembranei | 815 – 835 | Helical2 PublicationsAdd BLAST | 21 | |
Topological domaini | 836 – 863 | Cytoplasmic2 PublicationsAdd BLAST | 28 | |
Transmembranei | 864 – 884 | Helical2 PublicationsAdd BLAST | 21 | |
Topological domaini | 885 – 886 | Extracellular2 Publications | 2 | |
Transmembranei | 887 – 910 | Helical2 PublicationsAdd BLAST | 24 | |
Topological domaini | 911 – 930 | Cytoplasmic2 PublicationsAdd BLAST | 20 | |
Transmembranei | 931 – 951 | Helical2 PublicationsAdd BLAST | 21 | |
Topological domaini | 952 – 963 | Extracellular2 PublicationsAdd BLAST | 12 | |
Intramembranei | 964 – 984 | Pore-forming2 PublicationsAdd BLAST | 21 | |
Topological domaini | 985 – 1019 | Extracellular2 PublicationsAdd BLAST | 35 | |
Transmembranei | 1020 – 1040 | Helical2 PublicationsAdd BLAST | 21 | |
Topological domaini | 1041 – 1214 | Cytoplasmic2 PublicationsAdd BLAST | 174 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Progressive familial heart block 1B (PFHB1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064042 | 7 | E → K in PFHB1B; attenuated desumoylation of TRPM4 resulting in constitutive sumoylation of the channel leading to impaired endocytosis and elevated channel density at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs267607142EnsemblClinVar. | 1 | |
Natural variantiVAR_066763 | 131 | Q → H in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172146854Ensembl. | 1 | |
Natural variantiVAR_066764 | 164 | R → W in PFHB1B. 1 PublicationCorresponds to variant dbSNP:rs387907216EnsemblClinVar. | 1 | |
Natural variantiVAR_066766 | 293 | Q → R in PFHB1B; right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172147855EnsemblClinVar. | 1 | |
Natural variantiVAR_066767 | 432 | A → T in PFHB1B; atrioventricular block. 2 PublicationsCorresponds to variant dbSNP:rs201907325EnsemblClinVar. | 1 | |
Natural variantiVAR_066770 | 582 | G → S in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172149856EnsemblClinVar. | 1 | |
Natural variantiVAR_066771 | 790 | Y → H in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172150857Ensembl. | 1 | |
Natural variantiVAR_066772 | 844 | G → D in PFHB1B; right bundle-branch block. 2 PublicationsCorresponds to variant dbSNP:rs200038418EnsemblClinVar. | 1 | |
Natural variantiVAR_066774 | 914 | K → R in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172151858EnsemblClinVar. | 1 | |
Natural variantiVAR_066775 | 970 | P → S in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172152859EnsemblClinVar. | 1 |
Erythrokeratodermia variabilis et progressiva 6 (EKVP6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP6 inheritance is autosomal dominant.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083166 | 1033 | I → M in EKVP6; increased calcium activated cation channel activity; increased keratinocytes proliferation and differentiation; no effect on localization at cell membrane. 1 Publication | 1 | |
Natural variantiVAR_083167 | 1040 | I → T in EKVP6; increased calcium activated cation channel activity; increased keratinocytes proliferation and differentiation; no effect on localization at cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1369949906EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 275 | L → A or C: Abolishes ability to restore sensitivity to Ca(2+) after desensitization. 1 Publication | 1 | |
Mutagenesisi | 278 | I → N: No effect. 1 Publication | 1 | |
Mutagenesisi | 279 | D → N: No effect. 1 Publication | 1 | |
Mutagenesisi | 324 | G → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 325 | G → A: Abolishes ability to restore sensitivity to Ca(2+) after desensitization. 1 Publication | 1 | |
Mutagenesisi | 327 | R → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 977 | Q → E: Alters the monovalent cation permeability sequence and results in a pore with moderate Ca(2+) permeability. 1 Publication | 1 | |
Mutagenesisi | 981 – 986 | EDMDVA → TIIDGP: Induces a functional channel that combines the gating hallmarks of TRPM4 (activation by Ca(2+)) with TRPV6-like sensitivity to block by extracellular Ca(2+) and Mg(2+) as well as Ca(2+) permeation. 1 Publication | 6 | |
Mutagenesisi | 981 | E → A: Results in a channel with normal permeability properties but with a reduced sensitivity to block by intracellular spermine. 1 Publication | 1 | |
Mutagenesisi | 982 | D → A: Results in a functional channel that exhibits extremely fast desensitization, possibly indicating destabilization of the pore. 1 Publication | 1 | |
Mutagenesisi | 984 | D → A: Results in a non-functional channel with a dominant negative phenotype. 1 Publication | 1 | |
Mutagenesisi | 1059 | K → Q: Does not affect PIP2-binding. 1 Publication | 1 | |
Mutagenesisi | 1072 | R → Q: Does not affect PIP2-binding. 1 Publication | 1 | |
Mutagenesisi | 1136 – 1141 | Missing : Results in a channel with very rapid desensitization and highly reduced sensitivity to PIP2. 1 Publication | 6 | |
Mutagenesisi | 1145 | S → A: Decreases the sensitivity to Ca(2+). 1 Publication | 1 | |
Mutagenesisi | 1152 | S → A: Decreases the sensitivity to Ca(2+). 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 54795 |
GeneReviewsi | TRPM4 |
MalaCardsi | TRPM4 |
MIMi | 604559, phenotype 618531, phenotype |
OpenTargetsi | ENSG00000130529 |
Orphaneti | 130, Brugada syndrome 871, Familial progressive cardiac conduction defect 316, Progressive symmetric erythrokeratodermia |
PharmGKBi | PA38272 |
Miscellaneous databases
Pharosi | Q8TD43, Tchem |
Chemistry databases
ChEMBLi | CHEMBL1628469 |
DrugBanki | DB01016, Glyburide |
DrugCentrali | Q8TD43 |
GuidetoPHARMACOLOGYi | 496 |
Polymorphism and mutation databases
BioMutai | TRPM4 |
DMDMi | 74715868 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000259529 | 1 – 1214 | Transient receptor potential cation channel subfamily M member 4Add BLAST | 1214 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 992 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 993 ↔ 1011 | Combined sources1 Publication | ||
Modified residuei | 1145 | Phosphoserine; by PKC1 Publication | 1 | |
Modified residuei | 1152 | Phosphoserine; by PKC1 Publication | 1 |
Post-translational modificationi
Phosphorylation by PKC leads to increase the sensitivity to Ca2+.1 Publication
Sumoylated. Desumoylated by SENP1.1 Publication
Keywords - PTMi
Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8TD43 |
jPOSTi | Q8TD43 |
MassIVEi | Q8TD43 |
MaxQBi | Q8TD43 |
PaxDbi | Q8TD43 |
PeptideAtlasi | Q8TD43 |
PRIDEi | Q8TD43 |
ProteomicsDBi | 74233 [Q8TD43-1] 74234 [Q8TD43-2] 74235 [Q8TD43-3] |
PTM databases
GlyGeni | Q8TD43, 1 site |
iPTMneti | Q8TD43 |
PhosphoSitePlusi | Q8TD43 |
Expressioni
Tissue specificityi
Widely expressed with a high expression in intestine and prostate. In brain, it is both expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje fibers. Expressed at higher levels in T-helper 2 (Th2) cells as compared to T-helper 1 (Th1) cells. Expressed in keratocytes (PubMed:30528822).8 Publications
Gene expression databases
Bgeei | ENSG00000130529, Expressed in adult mammalian kidney and 170 other tissues |
ExpressionAtlasi | Q8TD43, baseline and differential |
Genevisiblei | Q8TD43, HS |
Organism-specific databases
HPAi | ENSG00000130529, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer.
1 Publication2 PublicationsBinary interactionsi
Hide detailsQ8TD43
TRPM4 - isoform 1 [Q8TD43-1]
With | #Exp. | IntAct |
---|---|---|
itself | 2 | EBI-20594601,EBI-20594601 |
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 120154, 18 interactors |
IntActi | Q8TD43, 24 interactors |
MINTi | Q8TD43 |
STRINGi | 9606.ENSP00000252826 |
Miscellaneous databases
RNActi | Q8TD43, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8TD43 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1076 – 1176 | Calmodulin-bindingAdd BLAST | 101 | |
Regioni | 1136 – 1141 | Mediates modulation by decavanadate and PIP2-binding1 Publication | 6 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1134 – 1187 | Sequence analysisAdd BLAST | 54 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 975 – 977 | Selectivity filter1 Publication | 3 |
Sequence similaritiesi
Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily. [View classification]Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3614, Eukaryota |
GeneTreei | ENSGT00940000158693 |
HOGENOMi | CLU_001390_0_1_1 |
InParanoidi | Q8TD43 |
OMAi | FPATYYM |
OrthoDBi | 738147at2759 |
PhylomeDBi | Q8TD43 |
TreeFami | TF314204 |
Family and domain databases
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR029581, TRPM4 IPR041491, TRPM_SLOG |
PANTHERi | PTHR13800:SF6, PTHR13800:SF6, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 1 hit PF18139, LSDAT_euk, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8TD43-1) [UniParc]FASTAAdd to basket
Also known as: TRPM4b
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVVPEKEQSW IPKIFKKKTC TTFIVDSTDP GGTLCQCGRP RTAHPAVAME
60 70 80 90 100
DAFGAAVVTV WDSDAHTTEK PTDAYGELDF TGAGRKHSNF LRLSDRTDPA
110 120 130 140 150
AVYSLVTRTW GFRAPNLVVS VLGGSGGPVL QTWLQDLLRR GLVRAAQSTG
160 170 180 190 200
AWIVTGGLHT GIGRHVGVAV RDHQMASTGG TKVVAMGVAP WGVVRNRDTL
210 220 230 240 250
INPKGSFPAR YRWRGDPEDG VQFPLDYNYS AFFLVDDGTH GCLGGENRFR
260 270 280 290 300
LRLESYISQQ KTGVGGTGID IPVLLLLIDG DEKMLTRIEN ATQAQLPCLL
310 320 330 340 350
VAGSGGAADC LAETLEDTLA PGSGGARQGE ARDRIRRFFP KGDLEVLQAQ
360 370 380 390 400
VERIMTRKEL LTVYSSEDGS EEFETIVLKA LVKACGSSEA SAYLDELRLA
410 420 430 440 450
VAWNRVDIAQ SELFRGDIQW RSFHLEASLM DALLNDRPEF VRLLISHGLS
460 470 480 490 500
LGHFLTPMRL AQLYSAAPSN SLIRNLLDQA SHSAGTKAPA LKGGAAELRP
510 520 530 540 550
PDVGHVLRML LGKMCAPRYP SGGAWDPHPG QGFGESMYLL SDKATSPLSL
560 570 580 590 600
DAGLGQAPWS DLLLWALLLN RAQMAMYFWE MGSNAVSSAL GACLLLRVMA
610 620 630 640 650
RLEPDAEEAA RRKDLAFKFE GMGVDLFGEC YRSSEVRAAR LLLRRCPLWG
660 670 680 690 700
DATCLQLAMQ ADARAFFAQD GVQSLLTQKW WGDMASTTPI WALVLAFFCP
710 720 730 740 750
PLIYTRLITF RKSEEEPTRE ELEFDMDSVI NGEGPVGTAD PAEKTPLGVP
760 770 780 790 800
RQSGRPGCCG GRCGGRRCLR RWFHFWGAPV TIFMGNVVSY LLFLLLFSRV
810 820 830 840 850
LLVDFQPAPP GSLELLLYFW AFTLLCEELR QGLSGGGGSL ASGGPGPGHA
860 870 880 890 900
SLSQRLRLYL ADSWNQCDLV ALTCFLLGVG CRLTPGLYHL GRTVLCIDFM
910 920 930 940 950
VFTVRLLHIF TVNKQLGPKI VIVSKMMKDV FFFLFFLGVW LVAYGVATEG
960 970 980 990 1000
LLRPRDSDFP SILRRVFYRP YLQIFGQIPQ EDMDVALMEH SNCSSEPGFW
1010 1020 1030 1040 1050
AHPPGAQAGT CVSQYANWLV VLLLVIFLLV ANILLVNLLI AMFSYTFGKV
1060 1070 1080 1090 1100
QGNSDLYWKA QRYRLIREFH SRPALAPPFI VISHLRLLLR QLCRRPRSPQ
1110 1120 1130 1140 1150
PSSPALEHFR VYLSKEAERK LLTWESVHKE NFLLARARDK RESDSERLKR
1160 1170 1180 1190 1200
TSQKVDLALK QLGHIREYEQ RLKVLEREVQ QCSRVLGWVA EALSRSALLP
1210
PGGPPPPDLP GSKD
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0QZ19 | M0QZ19_HUMAN | Transient receptor potential cation... | TRPM4 | 216 | Annotation score: | ||
M0R0H1 | M0R0H1_HUMAN | Transient receptor potential cation... | TRPM4 | 51 | Annotation score: | ||
M0R3H6 | M0R3H6_HUMAN | Transient receptor potential cation... | TRPM4 | 156 | Annotation score: | ||
M0QX92 | M0QX92_HUMAN | Transient receptor potential cation... | TRPM4 | 103 | Annotation score: | ||
A0A087X0Z3 | A0A087X0Z3_HUMAN | Transient receptor potential cation... | TRPM4 | 31 | Annotation score: | ||
M0QYK7 | M0QYK7_HUMAN | Transient receptor potential cation... | TRPM4 | 77 | Annotation score: |
Sequence cautioni
The sequence BAA90907 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1149 | K → E in BAA90907 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1207 | P → L in BAA90907 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1210 | P → H in BAA90907 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1214 | D → E in BAA90907 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064042 | 7 | E → K in PFHB1B; attenuated desumoylation of TRPM4 resulting in constitutive sumoylation of the channel leading to impaired endocytosis and elevated channel density at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs267607142EnsemblClinVar. | 1 | |
Natural variantiVAR_066761 | 101 | A → T1 PublicationCorresponds to variant dbSNP:rs113984787EnsemblClinVar. | 1 | |
Natural variantiVAR_066762 | 103 | Y → C1 PublicationCorresponds to variant dbSNP:rs144781529EnsemblClinVar. | 1 | |
Natural variantiVAR_066763 | 131 | Q → H in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172146854Ensembl. | 1 | |
Natural variantiVAR_066764 | 164 | R → W in PFHB1B. 1 PublicationCorresponds to variant dbSNP:rs387907216EnsemblClinVar. | 1 | |
Natural variantiVAR_066765 | 252 | R → H1 PublicationCorresponds to variant dbSNP:rs146564314EnsemblClinVar. | 1 | |
Natural variantiVAR_066766 | 293 | Q → R in PFHB1B; right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172147855EnsemblClinVar. | 1 | |
Natural variantiVAR_066767 | 432 | A → T in PFHB1B; atrioventricular block. 2 PublicationsCorresponds to variant dbSNP:rs201907325EnsemblClinVar. | 1 | |
Natural variantiVAR_066768 | 487 – 498 | Missing . Add BLAST | 12 | |
Natural variantiVAR_066769 | 561 | D → A1 PublicationCorresponds to variant dbSNP:rs56355369EnsemblClinVar. | 1 | |
Natural variantiVAR_066770 | 582 | G → S in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172149856EnsemblClinVar. | 1 | |
Natural variantiVAR_066771 | 790 | Y → H in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172150857Ensembl. | 1 | |
Natural variantiVAR_066772 | 844 | G → D in PFHB1B; right bundle-branch block. 2 PublicationsCorresponds to variant dbSNP:rs200038418EnsemblClinVar. | 1 | |
Natural variantiVAR_066773 | 854 | Q → R1 PublicationCorresponds to variant dbSNP:rs172155862EnsemblClinVar. | 1 | |
Natural variantiVAR_066774 | 914 | K → R in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172151858EnsemblClinVar. | 1 | |
Natural variantiVAR_066775 | 970 | P → S in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172152859EnsemblClinVar. | 1 | |
Natural variantiVAR_083166 | 1033 | I → M in EKVP6; increased calcium activated cation channel activity; increased keratinocytes proliferation and differentiation; no effect on localization at cell membrane. 1 Publication | 1 | |
Natural variantiVAR_083167 | 1040 | I → T in EKVP6; increased calcium activated cation channel activity; increased keratinocytes proliferation and differentiation; no effect on localization at cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1369949906EnsemblClinVar. | 1 | |
Natural variantiVAR_066776 | 1204 | P → L1 PublicationCorresponds to variant dbSNP:rs150391806EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021442 | 1 – 174 | Missing in isoform 2. 2 PublicationsAdd BLAST | 174 | |
Alternative sequenceiVSP_021443 | 738 – 882 | Missing in isoform 3. 1 PublicationAdd BLAST | 145 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY046396 mRNA Translation: AAL02142.1 AF497623 mRNA Translation: AAM18083.1 AY297044 mRNA Translation: AAP44473.1 AY297045 mRNA Translation: AAP44474.1 AY297046 mRNA Translation: AAP44475.1 AJ575813 mRNA Translation: CAE05941.1 AK000048 mRNA Translation: BAA90907.1 Sequence problems. AK292862 mRNA Translation: BAF85551.1 BC132727 mRNA Translation: AAI32728.1 |
CCDSi | CCDS33073.1 [Q8TD43-1] CCDS56098.1 [Q8TD43-3] |
RefSeqi | NP_001182156.1, NM_001195227.1 [Q8TD43-3] NP_001308212.1, NM_001321283.1 [Q8TD43-2] NP_060106.2, NM_017636.3 [Q8TD43-1] |
Genome annotation databases
Ensembli | ENST00000252826; ENSP00000252826; ENSG00000130529 [Q8TD43-1] ENST00000427978; ENSP00000407492; ENSG00000130529 [Q8TD43-3] |
GeneIDi | 54795 |
KEGGi | hsa:54795 |
UCSCi | uc002pmw.4, human [Q8TD43-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY046396 mRNA Translation: AAL02142.1 AF497623 mRNA Translation: AAM18083.1 AY297044 mRNA Translation: AAP44473.1 AY297045 mRNA Translation: AAP44474.1 AY297046 mRNA Translation: AAP44475.1 AJ575813 mRNA Translation: CAE05941.1 AK000048 mRNA Translation: BAA90907.1 Sequence problems. AK292862 mRNA Translation: BAF85551.1 BC132727 mRNA Translation: AAI32728.1 |
CCDSi | CCDS33073.1 [Q8TD43-1] CCDS56098.1 [Q8TD43-3] |
RefSeqi | NP_001182156.1, NM_001195227.1 [Q8TD43-3] NP_001308212.1, NM_001321283.1 [Q8TD43-2] NP_060106.2, NM_017636.3 [Q8TD43-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5WP6 | electron microscopy | 3.80 | A/B/C/D | 1-1214 | [»] | |
6BQR | electron microscopy | 3.20 | A/B/C/D | 75-1168 | [»] | |
6BQV | electron microscopy | 3.10 | A/B/C/D | 2-1214 | [»] | |
6BWI | electron microscopy | 3.70 | A/B/C/D | 395-1176 | [»] | |
SMRi | Q8TD43 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120154, 18 interactors |
IntActi | Q8TD43, 24 interactors |
MINTi | Q8TD43 |
STRINGi | 9606.ENSP00000252826 |
Chemistry databases
ChEMBLi | CHEMBL1628469 |
DrugBanki | DB01016, Glyburide |
DrugCentrali | Q8TD43 |
GuidetoPHARMACOLOGYi | 496 |
Protein family/group databases
TCDBi | 1.A.4.5.4, the transient receptor potential ca(2+) channel (trp-cc) family |
PTM databases
GlyGeni | Q8TD43, 1 site |
iPTMneti | Q8TD43 |
PhosphoSitePlusi | Q8TD43 |
Polymorphism and mutation databases
BioMutai | TRPM4 |
DMDMi | 74715868 |
Proteomic databases
EPDi | Q8TD43 |
jPOSTi | Q8TD43 |
MassIVEi | Q8TD43 |
MaxQBi | Q8TD43 |
PaxDbi | Q8TD43 |
PeptideAtlasi | Q8TD43 |
PRIDEi | Q8TD43 |
ProteomicsDBi | 74233 [Q8TD43-1] 74234 [Q8TD43-2] 74235 [Q8TD43-3] |
Protocols and materials databases
ABCDi | Q8TD43, 1 sequenced antibody |
Antibodypediai | 31943, 287 antibodies |
Genome annotation databases
Ensembli | ENST00000252826; ENSP00000252826; ENSG00000130529 [Q8TD43-1] ENST00000427978; ENSP00000407492; ENSG00000130529 [Q8TD43-3] |
GeneIDi | 54795 |
KEGGi | hsa:54795 |
UCSCi | uc002pmw.4, human [Q8TD43-1] |
Organism-specific databases
CTDi | 54795 |
DisGeNETi | 54795 |
EuPathDBi | HostDB:ENSG00000130529.15 |
GeneCardsi | TRPM4 |
GeneReviewsi | TRPM4 |
HGNCi | HGNC:17993, TRPM4 |
HPAi | ENSG00000130529, Low tissue specificity |
MalaCardsi | TRPM4 |
MIMi | 604559, phenotype 606936, gene 618531, phenotype |
neXtProti | NX_Q8TD43 |
OpenTargetsi | ENSG00000130529 |
Orphaneti | 130, Brugada syndrome 871, Familial progressive cardiac conduction defect 316, Progressive symmetric erythrokeratodermia |
PharmGKBi | PA38272 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3614, Eukaryota |
GeneTreei | ENSGT00940000158693 |
HOGENOMi | CLU_001390_0_1_1 |
InParanoidi | Q8TD43 |
OMAi | FPATYYM |
OrthoDBi | 738147at2759 |
PhylomeDBi | Q8TD43 |
TreeFami | TF314204 |
Enzyme and pathway databases
PathwayCommonsi | Q8TD43 |
Reactomei | R-HSA-3295583, TRP channels |
SIGNORi | Q8TD43 |
Miscellaneous databases
BioGRID-ORCSi | 54795, 4 hits in 845 CRISPR screens |
ChiTaRSi | TRPM4, human |
GeneWikii | TRPM4 |
GenomeRNAii | 54795 |
Pharosi | Q8TD43, Tchem |
PROi | PR:Q8TD43 |
RNActi | Q8TD43, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130529, Expressed in adult mammalian kidney and 170 other tissues |
ExpressionAtlasi | Q8TD43, baseline and differential |
Genevisiblei | Q8TD43, HS |
Family and domain databases
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR029581, TRPM4 IPR041491, TRPM_SLOG |
PANTHERi | PTHR13800:SF6, PTHR13800:SF6, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 1 hit PF18139, LSDAT_euk, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TRPM4_HUMAN | |
Accessioni | Q8TD43Primary (citable) accession number: Q8TD43 Secondary accession number(s): A2RU25 Q9NXV1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | June 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 148 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations