LOCUS       NP_065164                806 aa            linear   PRI 27-MAR-2025
DEFINITION  calcium permeable stress-gated cation channel 1 [Homo sapiens].
ACCESSION   NP_065164 XP_041116
VERSION     NP_065164.2
DBSOURCE    REFSEQ: accession NM_020431.4
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 806)
  AUTHORS   Miyata,Y., Nishimura,M., Nagata,A., Jing,X., Sultan,C.S.,
            Kuribayashi,R., Takahashi,K., Lee,Y., Nishizawa,T. and Segawa,K.
  TITLE     Membrane structure-responsive lipid scramblase activity of the
            TMEM63/OSCA family
  JOURNAL   FEBS Lett 599 (5), 656-666 (2025)
   PUBMED   39716028
REFERENCE   2  (residues 1 to 806)
  AUTHORS   Tabara,L.C., Al-Salmi,F., Maroofian,R., Al-Futaisi,A.M.,
            Al-Murshedi,F., Kennedy,J., Day,J.O., Courtin,T., Al-Khayat,A.,
            Galedari,H., Mazaheri,N., Protasoni,M., Johnson,M., Leslie,J.S.,
            Salter,C.G., Rawlins,L.E., Fasham,J., Al-Maawali,A., Voutsina,N.,
            Charles,P., Harrold,L., Keren,B., Kunji,E.R.S., Vona,B.,
            Jelodar,G., Sedaghat,A., Shariati,G., Houlden,H., Crosby,A.H.,
            Prudent,J. and Baple,E.L.
  TITLE     TMEM63C mutations cause mitochondrial morphology defects and
            underlie hereditary spastic paraplegia
  JOURNAL   Brain 145 (9), 3095-3107 (2022)
   PUBMED   35718349
  REMARK    GeneRIF: TMEM63C mutations cause mitochondrial morphology defects
            and underlie hereditary spastic paraplegia.
            Erratum:[Brain. 2022 Oct 21;145(10):e103. doi:
            10.1093/brain/awac254. PMID: 36076346]
REFERENCE   3  (residues 1 to 806)
  AUTHORS   Eisenreich,A., Orphal,M., Bohme,K. and Kreutz,R.
  TITLE     Tmem63c is a potential pro-survival factor in angiotensin
            II-treated human podocytes
  JOURNAL   Life Sci 258, 118175 (2020)
   PUBMED   32750436
  REMARK    GeneRIF: Tmem63c is a potential pro-survival factor in angiotensin
            II-treated human podocytes.
REFERENCE   4  (residues 1 to 806)
  AUTHORS   Orphal,M., Gillespie,A., Bohme,K., Subrova,J., Eisenreich,A. and
            Kreutz,R.
  TITLE     TMEM63C, a Potential Novel Target for Albuminuria Development, Is
            Regulated by MicroRNA-564 and Transforming Growth Factor beta in
            Human Renal Cells
  JOURNAL   Kidney Blood Press Res 45 (6), 850-862 (2020)
   PUBMED   33080601
  REMARK    GeneRIF: TMEM63C, a Potential Novel Target for Albuminuria
            Development, Is Regulated by MicroRNA-564 and Transforming Growth
            Factor beta in Human Renal Cells.
REFERENCE   5  (residues 1 to 806)
  AUTHORS   Zhao,X., Yan,X., Liu,Y., Zhang,P. and Ni,X.
  TITLE     Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers
            hyperosmolarity activated ion currents in HEK293 cells
  JOURNAL   Cell Biochem Funct 34 (4), 238-241 (2016)
   PUBMED   27045885
REFERENCE   6  (residues 1 to 806)
  AUTHORS   Hou,C., Tian,W., Kleist,T., He,K., Garcia,V., Bai,F., Hao,Y.,
            Luan,S. and Li,L.
  TITLE     DUF221 proteins are a family of osmosensitive calcium-permeable
            cation channels conserved across eukaryotes
  JOURNAL   Cell Res 24 (5), 632-635 (2014)
   PUBMED   24503647
REFERENCE   7  (residues 1 to 806)
  AUTHORS   Lee,H.J., Woo,H.G., Greenwood,T.A., Kripke,D.F. and Kelsoe,J.R.
  TITLE     A genome-wide association study of seasonal pattern mania
            identifies NF1A as a possible susceptibility gene for bipolar
            disorder
  JOURNAL   J Affect Disord 145 (2), 200-207 (2013)
   PUBMED   22925353
REFERENCE   8  (residues 1 to 806)
  AUTHORS   Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
            Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
            Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
            Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
            Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
            Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
            Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
            Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
            Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
            Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
            Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
            Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
            Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
            Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
            Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
            Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
            Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
            Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
            Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
            Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. doi:
            10.1038/s41586-023-06403-y. PMID: 37491470]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL537279.3, AK125159.1, BC136613.1, KF455952.1, AC007375.6,
            BX248759.1 and AL137278.1.
            
            On Jun 13, 2008 this sequence version replaced NP_065164.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK125159.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298351.5/ ENSP00000298351.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..806
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     Protein         1..806
                     /product="calcium permeable stress-gated cation channel 1"
                     /note="calcium permeable stress-gated cation channel 1
                     homolog"
                     /calculated_mol_wt=93186
     Site            38..62
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Region          44..203
                     /region_name="RSN1_TM"
                     /note="Late exocytosis, associated with Golgi transport;
                     pfam13967"
                     /db_xref="CDD:433613"
     Site            77
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CBX0; propagated from
                     UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            80
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CBX0; propagated from
                     UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            127..159
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            183..207
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Region          220..398
                     /region_name="PHM7_cyt"
                     /note="Cytosolic domain of 10TM putative phosphate
                     transporter; pfam14703"
                     /db_xref="CDD:464272"
     Site            404..433
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Region          427..680
                     /region_name="RSN1_7TM"
                     /note="Calcium-dependent channel, 7TM region, putative
                     phosphate; pfam02714"
                     /db_xref="CDD:460661"
     Site            449..478
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            483..519
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            543..575
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            596..614
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            618..642
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            650..678
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Site            684..704
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     Region          755..781
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1W3.1)"
     CDS             1..806
                     /gene="TMEM63C"
                     /gene_synonym="C14orf171; CSC1; hsCSC1; SPG87"
                     /coded_by="NM_020431.4:174..2594"
                     /db_xref="CCDS:CCDS45141.1"
                     /db_xref="GeneID:57156"
                     /db_xref="HGNC:HGNC:23787"
                     /db_xref="MIM:619953"
ORIGIN      
        1 msaspddlst ggrlqnmtvd ecfqsrntvl qgqpfggvpt vlclnialwv lvlvvysflr
       61 kaawdygrla llihndslts liygeqsekt spsetsleme rrdkgfcswf fnsitmkded
      121 linkcgddar iyivfqyhli ifvliicips lgiilpinyt gsvldwsshf arttivnvst
      181 eskllwlhsl lsffyfitnf mfmahhclgf aprnsqkvtr tlmityvpkd iedpeliikh
      241 fheaypgsvv trvhfcydvr nlidlddqrr hamrgrlfyt akakktgkvm irihpcarlc
      301 fckcwtcfke vdaeqyysel eeqltdefna elnrvplkrl dlifvtfqds rmakrvrkdy
      361 kyvqcgvqpq qssvttivks yywrvtmaph pkdiiwkhls vrrffwwarf iaintflffl
      421 ffflttpaii mntidmynvt rpieklqnpi vtqffpsvml wgftvilpli vyfsafleah
      481 wtrssqnlvm vhkcyiflvf mvvilpsmgl tsldvflrwl fdiyyleqas irfqcvflpd
      541 ngaffvnyvi taallgtgme llrlgslfcy strlffsrse pervnirknq aidfqfgrey
      601 awmmnvfsvv maysitcpii vpfgllylcm khltdrynmy ysfaptklne qihmaavsqa
      661 ifapllglfw mlffsilrlg slhaitifsl stlliamvia fvgiflgklr mvadyepeee
      721 eiqtvfdmep sstsstptsl lyvatvlqep elnltpassp arhtygtmnn qpeegeeesg
      781 lrgfarelds aqfqeglele gqnqyh
//
