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Protein

Calcium permeable stress-gated cation channel 1

Gene

TMEM63C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Acts as an osmosensitive calcium-permeable cation channel.1 Publication

Enzyme regulationi

Activated by hyperosmotic shock after mannitol treatment.1 Publication

GO - Molecular functioni

  • calcium activated cation channel activity Source: UniProtKB

GO - Biological processi

  • cation transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium

Protein family/group databases

TCDBi1.A.17.5.12. the calcium-dependent chloride channel (ca-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium permeable stress-gated cation channel 1
Alternative name(s):
Transmembrane protein 63C
Gene namesi
Name:TMEM63C
Synonyms:C14orf171, CSC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:23787. TMEM63C.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei35 – 5521HelicalSequence analysisAdd
BLAST
Transmembranei137 – 15721HelicalSequence analysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence analysisAdd
BLAST
Transmembranei410 – 43021HelicalSequence analysisAdd
BLAST
Transmembranei457 – 47721HelicalSequence analysisAdd
BLAST
Transmembranei496 – 51621HelicalSequence analysisAdd
BLAST
Transmembranei542 – 56221HelicalSequence analysisAdd
BLAST
Transmembranei606 – 62621HelicalSequence analysisAdd
BLAST
Transmembranei657 – 67721HelicalSequence analysisAdd
BLAST
Transmembranei687 – 70721HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134993950.

Polymorphism and mutation databases

BioMutaiTMEM63C.
DMDMi74719955.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 806806Calcium permeable stress-gated cation channel 1PRO_0000280730Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei77 – 771PhosphoserineBy similarity
Modified residuei80 – 801PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9P1W3.
PeptideAtlasiQ9P1W3.
PRIDEiQ9P1W3.

PTM databases

iPTMnetiQ9P1W3.
PhosphoSiteiQ9P1W3.

Expressioni

Gene expression databases

BgeeiQ9P1W3.
CleanExiHS_TMEM63C.
ExpressionAtlasiQ9P1W3. baseline and differential.
GenevisibleiQ9P1W3. HS.

Organism-specific databases

HPAiHPA030657.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000298351.

Structurei

3D structure databases

ProteinModelPortaliQ9P1W3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1134. Eukaryota.
COG5594. LUCA.
GeneTreeiENSGT00390000011855.
HOGENOMiHOG000006559.
HOVERGENiHBG056752.
InParanoidiQ9P1W3.
OMAiSFFYFIT.
OrthoDBiEOG7CVPX1.
PhylomeDBiQ9P1W3.
TreeFamiTF324300.

Family and domain databases

InterProiIPR032880. Csc1_N.
IPR027815. PHM7_cyt.
IPR003864. RSN1_7TM.
[Graphical view]
PfamiPF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9P1W3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSASPDDLST GGRLQNMTVD ECFQSRNTVL QGQPFGGVPT VLCLNIALWV
60 70 80 90 100
LVLVVYSFLR KAAWDYGRLA LLIHNDSLTS LIYGEQSEKT SPSETSLEME
110 120 130 140 150
RRDKGFCSWF FNSITMKDED LINKCGDDAR IYIVFQYHLI IFVLIICIPS
160 170 180 190 200
LGIILPINYT GSVLDWSSHF ARTTIVNVST ESKLLWLHSL LSFFYFITNF
210 220 230 240 250
MFMAHHCLGF APRNSQKVTR TLMITYVPKD IEDPELIIKH FHEAYPGSVV
260 270 280 290 300
TRVHFCYDVR NLIDLDDQRR HAMRGRLFYT AKAKKTGKVM IRIHPCARLC
310 320 330 340 350
FCKCWTCFKE VDAEQYYSEL EEQLTDEFNA ELNRVPLKRL DLIFVTFQDS
360 370 380 390 400
RMAKRVRKDY KYVQCGVQPQ QSSVTTIVKS YYWRVTMAPH PKDIIWKHLS
410 420 430 440 450
VRRFFWWARF IAINTFLFFL FFFLTTPAII MNTIDMYNVT RPIEKLQNPI
460 470 480 490 500
VTQFFPSVML WGFTVILPLI VYFSAFLEAH WTRSSQNLVM VHKCYIFLVF
510 520 530 540 550
MVVILPSMGL TSLDVFLRWL FDIYYLEQAS IRFQCVFLPD NGAFFVNYVI
560 570 580 590 600
TAALLGTGME LLRLGSLFCY STRLFFSRSE PERVNIRKNQ AIDFQFGREY
610 620 630 640 650
AWMMNVFSVV MAYSITCPII VPFGLLYLCM KHLTDRYNMY YSFAPTKLNE
660 670 680 690 700
QIHMAAVSQA IFAPLLGLFW MLFFSILRLG SLHAITIFSL STLLIAMVIA
710 720 730 740 750
FVGIFLGKLR MVADYEPEEE EIQTVFDMEP SSTSSTPTSL LYVATVLQEP
760 770 780 790 800
ELNLTPASSP ARHTYGTMNN QPEEGEEESG LRGFARELDS AQFQEGLELE

GQNQYH
Length:806
Mass (Da):93,317
Last modified:October 1, 2000 - v1
Checksum:i99BEE7EE687D300C
GO

Sequence cautioni

The sequence AAF62556.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 71D → N in BAG54157 (PubMed:14702039).Curated
Sequence conflicti23 – 231F → L in BAG54157 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti654 – 6541M → V.
Corresponds to variant rs2287384 [ dbSNP | Ensembl ].
VAR_031193

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125159 mRNA. Translation: BAG54157.1.
AC007375 Genomic DNA. Translation: AAF63182.1.
AC007954 Genomic DNA. Translation: AAF62556.1. Sequence problems.
CH471061 Genomic DNA. Translation: EAW81272.1.
BC136613 mRNA. Translation: AAI36614.1.
BC136614 mRNA. Translation: AAI36615.1.
BX248756 mRNA. Translation: CAD66563.1.
BX248759 mRNA. Translation: CAD66566.1.
AL157492 mRNA. Translation: CAB75676.1.
CCDSiCCDS45141.1.
PIRiT46920.
RefSeqiNP_065164.2. NM_020431.3.
UniGeneiHs.22452.

Genome annotation databases

EnsembliENST00000298351; ENSP00000298351; ENSG00000165548.
GeneIDi57156.
KEGGihsa:57156.
UCSCiuc001xtf.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125159 mRNA. Translation: BAG54157.1.
AC007375 Genomic DNA. Translation: AAF63182.1.
AC007954 Genomic DNA. Translation: AAF62556.1. Sequence problems.
CH471061 Genomic DNA. Translation: EAW81272.1.
BC136613 mRNA. Translation: AAI36614.1.
BC136614 mRNA. Translation: AAI36615.1.
BX248756 mRNA. Translation: CAD66563.1.
BX248759 mRNA. Translation: CAD66566.1.
AL157492 mRNA. Translation: CAB75676.1.
CCDSiCCDS45141.1.
PIRiT46920.
RefSeqiNP_065164.2. NM_020431.3.
UniGeneiHs.22452.

3D structure databases

ProteinModelPortaliQ9P1W3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000298351.

Protein family/group databases

TCDBi1.A.17.5.12. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

iPTMnetiQ9P1W3.
PhosphoSiteiQ9P1W3.

Polymorphism and mutation databases

BioMutaiTMEM63C.
DMDMi74719955.

Proteomic databases

PaxDbiQ9P1W3.
PeptideAtlasiQ9P1W3.
PRIDEiQ9P1W3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298351; ENSP00000298351; ENSG00000165548.
GeneIDi57156.
KEGGihsa:57156.
UCSCiuc001xtf.3. human.

Organism-specific databases

CTDi57156.
GeneCardsiTMEM63C.
H-InvDBHIX0011843.
HGNCiHGNC:23787. TMEM63C.
HPAiHPA030657.
neXtProtiNX_Q9P1W3.
PharmGKBiPA134993950.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1134. Eukaryota.
COG5594. LUCA.
GeneTreeiENSGT00390000011855.
HOGENOMiHOG000006559.
HOVERGENiHBG056752.
InParanoidiQ9P1W3.
OMAiSFFYFIT.
OrthoDBiEOG7CVPX1.
PhylomeDBiQ9P1W3.
TreeFamiTF324300.

Miscellaneous databases

GenomeRNAii57156.
PROiQ9P1W3.

Gene expression databases

BgeeiQ9P1W3.
CleanExiHS_TMEM63C.
ExpressionAtlasiQ9P1W3. baseline and differential.
GenevisibleiQ9P1W3. HS.

Family and domain databases

InterProiIPR032880. Csc1_N.
IPR027815. PHM7_cyt.
IPR003864. RSN1_7TM.
[Graphical view]
PfamiPF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. "The DNA sequence and analysis of human chromosome 14."
    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., Bruels 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.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 139-274 AND 148-360.
    Tissue: Fetal brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 613-806.
    Tissue: Testis.
  7. "DUF221 proteins are a family of osmosensitive calcium-permeable cation channels conserved across eukaryotes."
    Hou C., Tian W., Kleist T., He K., Garcia V., Bai F., Hao Y., Luan S., Li L.
    Cell Res. 24:632-635(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ENZYME REGULATION.

Entry informationi

Entry nameiCSC1_HUMAN
AccessioniPrimary (citable) accession number: Q9P1W3
Secondary accession number(s): B2RN22
, B3KWJ5, Q86TS3, Q86TS4, Q9NSQ4, Q9P1W1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2000
Last modified: July 6, 2016
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.