BACK HOME

Q9Y210 Proteins with ANK Repeats

Uniprot ID: Q9Y210	Protein name : Short transient receptor potential channel 6	Gene : TRPC6 TRP6
Protein Families : "Transient receptor (TC 1.A.4) family, STrpC subfamily, TRPC6 sub-subfamily"	Squence Length : 931

Sequence	>Q9Y210 932 MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGSDNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEECHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAILSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLRKGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALELSNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGRPNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFLALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNAKQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAASFIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYIGAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLLNMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKLKKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSSEDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLEEKSQNTEDLAELIRELGEKLSMEPNQEETNR
Repeat regions	REPEAT 97 126 ANK 1 REPEAT 132 161 ANK 2 REPEAT 163 189 ANK 3 REPEAT 218 247 ANK 4
Sequence region of repeats	97- 126 EERFLDAAEYGNIPVVRKMLEECHSLNVNC 132- 161 QNALQLAVANEHLEITELLLKKENLSRVGD 163- 189 LLLAISKGYVRIVEAILSHPAFAEGKR 218- 247 VTPIILAAHCQEYEIVHTLLRKGARIERPH
Function	"Thought to form a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C (PubMed:26892346). Seems not to be activated by intracellular calcium store depletion"
Mutation	110 110 N->H: Increases calcium ion transport 125 125 N->A: No effect on RNF24-binding when associated with A-127 A-128 and A-130 127 127 N->A: No effect on RNF24-binding when associated with A-125 A-128 and A-130 128 128 C->A: No effect on RNF24-binding when associated with A-125 A-127 and A-130 130 130 D->A: No effect on RNF24-binding when associated with A-125 A-127 and A-128 132 132 M->T: Increases cation channel activity 561 561 N->Q: Constitutively activates channel 755 757 EEG->KKR: Decreases calcium ion transport 755 756 EE->KK: Increases calcium ion transport 826 827 KK->EE: Decreases calcium ion transport 889 889 Q->K: Increases calcium transport
Disease	"DISEASE: Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation Note=The disease is caused by mutations affecting the gene represented in this entry"