Protein Details: Transient receptor potential cation channel subfamily M member 3

Protein ID

ICDB_Pro_1515

Protein Name

Transient receptor potential cation channel subfamily M member 3

Gene Name

TRPM3; KIAA1616; LTRPC3

Organism

Homo sapiens (Human)

Length

1732 amino acids

AlphaFoldDB

AF-Q9HCF6-F1-model_v4.pdb

Function

Sequence

MPEPWGTVYFLGIAQVFSFLFSWWNLEGVMNQADAPRPLNWTIRKLCHAAFLPSVRLLKAQKSWIERAFYKRECVHIIPSTKDPHRCCCGRLIGQHVGLTPSISVLQNEKNESRLSRNDIQSEKWSISKHTQLSPTDAFGTIEFQGGGHSNKAMYVRVSFDTKPDLLLHLMTKEWQLELPKLLISVHGGLQNFELQPKLKQVFGKGLIKAAMTTGAWIFTGGVNTGVIRHVGDALKDHASKSRGKICTIGIAPWGIVENQEDLIGRDVVRPYQTMSNPMSKLTVLNSMHSHFILADNGTTGKYGAEVKLRRQLEKHISLQKINTRCLPFFSLDSRLFYSFWGSCQLDSVGIGQGVPVVALIVEGGPNVISIVLEYLRDTPPVPVVVCDGSGRASDILAFGHKYSEEGGLINESLRDQLLVTIQKTFTYTRTQAQHLFIILMECMKKKELITVFRMGSEGHQDIDLAILTALLKGANASAPDQLSLALAWNRVDIARSQIFIYGQQWPVGSLEQAMLDALVLDRVDFVKLLIENGVSMHRFLTISRLEELYNTRHGPSNTLYHLVRDVKKGNLPPDYRISLIDIGLVIEYLMGGAYRCNYTRKRFRTLYHNLFGPKRPKALKLLGMEDDIPLRRGRKTTKKREEEVDIDLDDPEINHFPFPFHELMVWAVLMKRQKMALFFWQHGEEAMAKALVACKLCKAMAHEASENDMVDDISQELNHNSRDFGQLAVELLDQSYKQDEQLAMKLLTYELKNWSNATCLQLAVAAKHRDFIAHTCSQMLLTDMWMGRLRMRKNSGLKVILGILLPPSILSLEFKNKDDMPYMSQAQEIHLQEKEAEEPEKPTKEKEEEDMELTAMLGRNNGESSRKKDEEEVQSKHRLIPLGRKIYEFYNAPIVKFWFYTLAYIGYLMLFNYIVLVKMERWPSTQEWIVISYIFTLGIEKMREILMSEPGKLLQKVKVWLQEYWNVTDLIAILLFSVGMILRLQDQPFRSDGRVIYCVNIIYWYIRLLDIFGVNKYLGPYVMMIGKMMIDMMYFVIIMLVVLMSFGVARQAILFPNEEPSWKLAKNIFYMPYWMIYGEVFADQIDPPCGQNETREDGKIIQLPPCKTGAWIVPAIMACYLLVANILLVNLLIAVFNNTFFEVKSISNQVWKFQRYQLIMTFHERPVLPPPLIIFSHMTMIFQHLCCRWRKHESDPDERDYGLKLFITDDELKKVHDFEEQCIEEYFREKDDRFNSSNDERIRVTSERVENMSMRLEEVNEREHSMKASLQTVDIRLAQLEDLIGRMATALERLTGLERAESNKIRSRTSSDCTDAAYIVRQSSFNSQEGNTFKLQESIDPAGEETMSPTSPTLMPRMRSHSFYSVNMKDKGGIEKLESIFKERSLSLHRATSSHSVAKEPKAPAAPANTLAIVPDSRRPSSCIDIYVSAMDELHCDIDPLDNSVNILGLGEPSFSTPVPSTAPSSSAYATLAPTDRPPSRSIDFEDITSMDTRSFSSDYTHLPECQNPWDSEPPMYHTIERSKSSRYLATTPFLLEEAPIVKSHSFMFSPSRSYYANFGVPVKTAEYTSITDCIDTRCVNAPQAIADRAAFPGGLGDKVEDLTCCHPEREAELSHPSSDSEENEAKGRRATIAISSQEGDNSERTLSNNITVPKIERANSYSAEEPSAPYAHTRKSFSISDKLDRQRNTASLRNPFQRSKSSKPEGRGDSLSMRRLSRTSAFQSFESKHN

PDB Structures

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

Disease

Cataract With Or Without Glaucoma and Neurodevelopmental Disorder With Hypotonia;Dysmorphic Facies;And Skeletal Anomalies;With Or Without Seizures

Location

Expressed primarily in the kidney and; at lower levels; in brain; testis; ovary; pancreas and spinal cord. Expression in the brain and kidney was determined at protein level. In the kidney; expressed predominantly in the collecting tubular epithelium in the medulla; medullary rays; and periglomerular regions; in the brain; highest levels are found in the cerebellum; choroid plexus; the locus coeruleus; the posterior thalamus and the substantia nigra. In the kidney; expressed predominantly in the collecting tubular epithelium in the medulla; medullary rays; and periglomerular regions; in the brain; highest levels are found in the cerebellum; choroid plexus; the locus coeruleus; the posterior thalamus and the substantia nigra. In the kidney; expressed predominantly in the collecting tubular epithelium in the medulla; medullary rays; and periglomerular regions; in the brain; highest levels are found in the cerebellum; choroid plexus; the locus coeruleus; the posterior thalamus and the substantia nigra. Down-regulated in renal tumors compared to normal kidney. Expressed in the lens. .

DOI ID

10.1074/jbc.m300945200; 10.1038/nature02465; 10.1101/gr.2596504; 10.1101/gr.gr1547r; 10.1074/jbc.m211232200; 10.1093/dnares/7.4.271; 10.1074/jbc.m110.202945; 10.1371/journal.pone.0104000; 10.1038/s41431-019-0462-x; 10.7554/elife.57190; 10.7554/elife.55634; 10.1016/j.ejmg.2020.103942; 10.1186/s12887-021-02719-8; 10.1016/j.ejmg.2021.104320; 10.1002/ajmg.a.62673

RefSeq

NP_001007472.2 [Q9HCF6-2]; NP_996831.1 [Q9HCF6-12]; XP_011517340.1; XP_011517341.1; XP_011517343.1; XP_011517346.1; XP_011517348.1; XP_011517349.1; XP_016870631.1;