LOCUS       NP_004612                931 aa            linear   PRI 30-APR-2025
DEFINITION  short transient receptor potential channel 6 isoform 1 [Homo
            sapiens].
ACCESSION   NP_004612
VERSION     NP_004612.2
DBSOURCE    REFSEQ: accession NM_004621.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 931)
  AUTHORS   Carl,C., Wagner,M., Linxweiler,M., Schick,B. and Tschernig,T.
  TITLE     Immunohistochemical expression of the cation channel TRPC6 in the
            submandibular and lacrimal gland and in salivary gland tumors
  JOURNAL   Pathol Res Pract 261, 155483 (2024)
   PUBMED   39098247
  REMARK    GeneRIF: Immunohistochemical expression of the cation channel TRPC6
            in the submandibular and lacrimal gland and in salivary gland
            tumors.
REFERENCE   2  (residues 1 to 931)
  AUTHORS   Zhao,G., Li,J., Liu,Y., Li,G., Zhang,Y., Zhang,S. and Liu,C.
  TITLE     [Expansion of the genotypic and phenotypic spectrum and treatment
            of four children with Steroid-resistant nephrotic syndrome due to
            variants of TRPC6 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (4), 473-479 (2024)
   PUBMED   38565515
  REMARK    GeneRIF: [Expansion of the genotypic and phenotypic spectrum and
            treatment of four children with Steroid-resistant nephrotic
            syndrome due to variants of TRPC6 gene].
REFERENCE   3  (residues 1 to 931)
  AUTHORS   Li,S., Ma,Q., Ma,Z., Shi,Y., Yu,X., Gu,B., Sun,S., Yu,C. and
            Pang,L.
  TITLE     Renal ischaemia-reperfusion injury is promoted by transcription
            factor NF-kB p65, which inhibits TRPC6 expression by activating
            miR-150
  JOURNAL   Clin Hemorheol Microcirc 86 (3), 369-382 (2024)
   PUBMED   37980653
  REMARK    GeneRIF: Renal ischaemia-reperfusion injury is promoted by
            transcription factor NF-kB p65, which inhibits TRPC6 expression by
            activating miR-150.
REFERENCE   4  (residues 1 to 931)
  AUTHORS   Wang,M., Zhang,X., Guo,J., Yang,S., Yang,F. and Chen,X.
  TITLE     TRPC6 Deletion Enhances eNOS Expression and Reduces LPS-Induced
            Acute Lung Injury
  JOURNAL   Int J Mol Sci 24 (23), 16756 (2023)
   PUBMED   38069081
  REMARK    GeneRIF: TRPC6 Deletion Enhances eNOS Expression and Reduces
            LPS-Induced Acute Lung Injury.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 931)
  AUTHORS   't Hart,D.C., van der Vlag,J. and Nijenhuis,T.
  TITLE     A Putative Role for TRPC6 in Immune-Mediated Kidney Injury
  JOURNAL   Int J Mol Sci 24 (22), 16419 (2023)
   PUBMED   38003608
  REMARK    GeneRIF: A Putative Role for TRPC6 in Immune-Mediated Kidney
            Injury.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 931)
  AUTHORS   Philipp,S., Trost,C., Warnat,J., Rautmann,J., Himmerkus,N.,
            Schroth,G., Kretz,O., Nastainczyk,W., Cavalie,A., Hoth,M. and
            Flockerzi,V.
  TITLE     TRP4 (CCE1) protein is part of native calcium release-activated
            Ca2+-like channels in adrenal cells
  JOURNAL   J Biol Chem 275 (31), 23965-23972 (2000)
   PUBMED   10816590
REFERENCE   7  (residues 1 to 931)
  AUTHORS   Boulay,G., Brown,D.M., Qin,N., Jiang,M., Dietrich,A., Zhu,M.X.,
            Chen,Z., Birnbaumer,M., Mikoshiba,K. and Birnbaumer,L.
  TITLE     Modulation of Ca(2+) entry by polypeptides of the inositol 1,4,
            5-trisphosphate receptor (IP3R) that bind transient receptor
            potential (TRP): evidence for roles of TRP and IP3R in store
            depletion-activated Ca(2+) entry
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 14955-14960 (1999)
   PUBMED   10611319
REFERENCE   8  (residues 1 to 931)
  AUTHORS   Winn,M.P., Conlon,P.J., Lynn,K.L., Howell,D.N., Slotterbeck,B.D.,
            Smith,A.H., Graham,F.L., Bembe,M., Quarles,L.D., Pericak-Vance,M.A.
            and Vance,J.M.
  TITLE     Linkage of a gene causing familial focal segmental
            glomerulosclerosis to chromosome 11 and further evidence of genetic
            heterogeneity
  JOURNAL   Genomics 58 (2), 113-120 (1999)
   PUBMED   10368108
REFERENCE   9  (residues 1 to 931)
  AUTHORS   Hofmann,T., Obukhov,A.G., Schaefer,M., Harteneck,C., Gudermann,T.
            and Schultz,G.
  TITLE     Direct activation of human TRPC6 and TRPC3 channels by
            diacylglycerol
  JOURNAL   Nature 397 (6716), 259-263 (1999)
   PUBMED   9930701
REFERENCE   10 (residues 1 to 931)
  AUTHORS   D'Esposito,M., Strazzullo,M., Cuccurese,M., Spalluto,C., Rocchi,M.,
            D'Urso,M. and Ciccodicola,A.
  TITLE     Identification and assignment of the human transient receptor
            potential channel 6 gene TRPC6 to chromosome 11q21-->q22
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 46-47 (1998)
   PUBMED   9925922
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003080.3, AJ006276.1 and
            AK001960.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 11, 1999 this sequence version replaced NP_004612.1.
            
            Summary: The protein encoded by this gene forms a
            receptor-activated calcium channel in the cell membrane. The
            channel is activated by diacylglycerol and is thought to be under
            the control of a phosphatidylinositol second messenger system.
            Activation of this channel occurs independently of protein kinase C
            and is not triggered by low levels of intracellular calcium.
            Defects in this gene are a cause of focal segmental
            glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ006276.1, AF080394.2 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344327.8/ ENSP00000340913.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.1"
     Protein         1..931
                     /product="short transient receptor potential channel 6
                     isoform 1"
                     /note="short transient receptor potential channel 6;
                     TRP-6; transient receptor protein 6; focal segmental
                     glomerulosclerosis 2"
                     /calculated_mol_wt=106196
     Region          1..26
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Region          82..897
                     /region_name="trp"
                     /note="transient-receptor-potential calcium channel
                     protein; TIGR00870"
                     /db_xref="CDD:273311"
     Region          97..126
                     /region_name="ANK 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            order(107..109,111..112,116,119,130,132,134,138..139,
                     142..144,146..147,151,154,159,161,163,166..167,170..172,
                     174..175,179,182)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Region          132..161
                     /region_name="ANK 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Region          132..159
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          161..185
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          163..189
                     /region_name="ANK 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Region          212..247
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          218..247
                     /region_name="ANK 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            439..459
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            473
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12970363; propagated from
                     UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            488..508
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            522..542
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            561
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12970363; propagated from
                     UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            593..613
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            637..657
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            707..727
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y210.1)"
     Site            815
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (Q9Y210.1)"
     CDS             1..931
                     /gene="TRPC6"
                     /gene_synonym="FSGS2; TRP6"
                     /coded_by="NM_004621.6:505..3300"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS8311.1"
                     /db_xref="GeneID:7225"
                     /db_xref="HGNC:HGNC:12338"
                     /db_xref="MIM:603652"
ORIGIN      
        1 msqspafgpr rgssprgaag aaarrnesqd yllmdselge dgcpqaplpc ygyypcfrgs
       61 dnrlahrrqt vlrekgrrla nrgpaymfsd rstslsieee rfldaaeygn ipvvrkmlee
      121 chslnvncvd ymgqnalqla vanehleite lllkkenlsr vgdalllais kgyvriveai
      181 lshpafaegk rlatspsqse lqqddfyayd edgtrfshdv tpiilaahcq eyeivhtllr
      241 kgarierphd yfckcndcnq kqkhdsfshs rsrinaykgl aspaylslss edpvmtalel
      301 snelavlani ekefkndykk lsmqckdfvv glldlcrnte eveailngdv etlqsgdhgr
      361 pnlsrlklai kyevkkfvah pncqqqllsi wyenlsglrq qtmavkflvv lavaiglpfl
      421 aliywfapcs kmgkimrgpf mkfvahaasf tiflgllvmn aadrfegtkl lpnetstdna
      481 kqlfrmktsc fswmemliis wvigmiwaec keiwtqgpke ylfelwnmld fgmlaifaas
      541 fiarfmafwh askaqsiida ndtlkdltkv tlgdnvkyyn larikwdpsd pqiiseglya
      601 iavvlsfsri ayilpanesf gplqislgrt vkdifkfmvi fimvfvafmi gmfnlysyyi
      661 gakqneaftt veesfktlfw aifglsevks vvinynhkfi enigyvlygv ynvtmvivll
      721 nmliaminss fqeieddadv ewkfaraklw fsyfeegrtl pvpfnlvpsp kslfylllkl
      781 kkwiselfqg hkkgfqedae mnkineekkl gilgshedls klsldkkqvg hnkqpsirss
      841 edfhlnsfnn pprqyqkimk rlikryvlqa qidkesdevn egelkeikqd isslryelle
      901 eksqntedla elirelgekl smepnqeetn r
//
