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Protein

CSC1-like protein 1

Gene

TMEM63A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Acts as an osmosensitive calcium-permeable cation channel.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
CSC1-like protein 1
Alternative name(s):
Transmembrane protein 63A
Gene namesi
Name:TMEM63A
Synonyms:KIAA0489, KIAA0792
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29118. TMEM63A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei50 – 7021HelicalSequence analysisAdd
BLAST
Transmembranei146 – 16621HelicalSequence analysisAdd
BLAST
Transmembranei191 – 21121HelicalSequence analysisAdd
BLAST
Transmembranei423 – 44321HelicalSequence analysisAdd
BLAST
Transmembranei462 – 48221HelicalSequence analysisAdd
BLAST
Transmembranei508 – 52821HelicalSequence analysisAdd
BLAST
Transmembranei553 – 57321HelicalSequence analysisAdd
BLAST
Transmembranei620 – 64021HelicalSequence analysisAdd
BLAST
Transmembranei665 – 68521HelicalSequence analysisAdd
BLAST
Transmembranei698 – 71821HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • lysosomal membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670776.

Polymorphism and mutation databases

BioMutaiTMEM63A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 807807CSC1-like protein 1PRO_0000280725Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei739 – 7391PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94886.
MaxQBiO94886.
PaxDbiO94886.
PeptideAtlasiO94886.
PRIDEiO94886.

PTM databases

iPTMnetiO94886.
PhosphoSiteiO94886.
SwissPalmiO94886.

Expressioni

Gene expression databases

BgeeiO94886.
CleanExiHS_TMEM63A.
ExpressionAtlasiO94886. baseline and differential.
GenevisibleiO94886. HS.

Interactioni

Protein-protein interaction databases

BioGridi115074. 36 interactions.
IntActiO94886. 1 interaction.
STRINGi9606.ENSP00000355800.

Structurei

3D structure databases

ProteinModelPortaliO94886.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1134. Eukaryota.
COG5594. LUCA.
GeneTreeiENSGT00390000011855.
HOGENOMiHOG000006559.
HOVERGENiHBG056752.
InParanoidiO94886.
OMAiGLRWWLQ.
OrthoDBiEOG7HTHG9.
PhylomeDBiO94886.
TreeFamiTF324300.

Family and domain databases

Gene3Di3.30.70.330. 2 hits.
InterProiIPR032880. Csc1_N.
IPR012677. Nucleotide-bd_a/b_plait.
IPR027815. PHM7_cyt.
IPR003864. RSN1_7TM.
IPR026957. TMEM63A.
[Graphical view]
PANTHERiPTHR13018:SF24. PTHR13018:SF24. 1 hit.
PfamiPF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 2 hits.

Sequencei

Sequence statusi: Complete.

O94886-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMDSPFLELW QSKAVSIREQ LGLGDRPNDS YCYNSAKNST VLQGVTFGGI
60 70 80 90 100
PTVLLIDVSC FLFLILVFSI IRRRFWDYGR IALVSEADSE SRFQRLSSTS
110 120 130 140 150
SSGQQDFENE LGCCPWLTAI FRLHDDQILE WCGEDAIHYL SFQRHIIFLL
160 170 180 190 200
VVVSFLSLCV ILPVNLSGDL LDKDPYSFGR TTIANLQTDN DLLWLHTIFA
210 220 230 240 250
VIYLFLTVGF MRHHTQSIKY KEENLVRRTL FITGLPRDAR KETVESHFRD
260 270 280 290 300
AYPTCEVVDV QLCYNVAKLI YLCKEKKKTE KSLTYYTNLQ VKTGQRTLIN
310 320 330 340 350
PKPCGQFCCC EVLGCEWEDA ISYYTRMKDR LLERITEEER HVQDQPLGMA
360 370 380 390 400
FVTFQEKSMA TYILKDFNAC KCQSLQCKGE PQPSSHSREL YTSKWTVTFA
410 420 430 440 450
ADPEDICWKN LSIQGLRWWL QWLGINFTLF LGLFFLTTPS IILSTMDKFN
460 470 480 490 500
VTKPIHALNN PIISQFFPTL LLWSFSALLP SIVYYSTLLE SHWTKSGENQ
510 520 530 540 550
IMMTKVYIFL IFMVLILPSL GLTSLDFFFR WLFDKTSSEA SIRLECVFLP
560 570 580 590 600
DQGAFFVNYV IASAFIGNGM ELLRLPGLIL YTFRMIMAKT AADRRNVKQN
610 620 630 640 650
QAFQYEFGAM YAWMLCVFTV IVAYSITCPI IAPFGLIYIL LKHMVDRHNL
660 670 680 690 700
YFVYLPAKLE KGIHFAAVNQ ALAAPILCLF WLYFFSFLRL GMKAPATLFT
710 720 730 740 750
FLVLLLTILV CLAHTCFGCF KHLSPLNYKT EEPASDKGSE AEAHMPPPFT
760 770 780 790 800
PYVPRILNGL ASERTALSPQ QQQQQTYGAI HNISGTIPGQ CLAQSATGSV

AAAPQEA
Length:807
Mass (Da):92,126
Last modified:March 20, 2007 - v3
Checksum:iD7C32A11F7FEDF63
GO

Sequence cautioni

The sequence BAA34512.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD96654.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD96664.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51P → L in BAD96654 (Ref. 2) Curated
Sequence conflicti5 – 51P → L in BAD96664 (Ref. 2) Curated
Sequence conflicti206 – 2061L → F in BAA34512 (PubMed:9872452).Curated
Sequence conflicti547 – 5471V → I in BAD96654 (Ref. 2) Curated
Sequence conflicti547 – 5471V → I in BAD96664 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti121 – 1211F → I.
Corresponds to variant rs57306966 [ dbSNP | Ensembl ].
VAR_061813
Natural varianti622 – 6221V → M.
Corresponds to variant rs1009668 [ dbSNP | Ensembl ].
VAR_031191

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018335 mRNA. Translation: BAA34512.2. Different initiation.
AK222944 mRNA. Translation: BAD96664.1. Different initiation.
AK222934 mRNA. Translation: BAD96654.1. Different initiation.
AL117348 Genomic DNA. Translation: CAI21797.1.
AL117348, AL591895 Genomic DNA. Translation: CAI21798.1.
AL591895, AL117348 Genomic DNA. Translation: CAH71996.1.
BC030245 mRNA. Translation: AAH30245.1.
CCDSiCCDS31042.1.
RefSeqiNP_055513.2. NM_014698.2.
XP_011542630.1. XM_011544328.1.
XP_011542631.1. XM_011544329.1.
XP_011542632.1. XM_011544330.1.
UniGeneiHs.119387.

Genome annotation databases

EnsembliENST00000366835; ENSP00000355800; ENSG00000196187.
GeneIDi9725.
KEGGihsa:9725.
UCSCiuc001hpm.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018335 mRNA. Translation: BAA34512.2. Different initiation.
AK222944 mRNA. Translation: BAD96664.1. Different initiation.
AK222934 mRNA. Translation: BAD96654.1. Different initiation.
AL117348 Genomic DNA. Translation: CAI21797.1.
AL117348, AL591895 Genomic DNA. Translation: CAI21798.1.
AL591895, AL117348 Genomic DNA. Translation: CAH71996.1.
BC030245 mRNA. Translation: AAH30245.1.
CCDSiCCDS31042.1.
RefSeqiNP_055513.2. NM_014698.2.
XP_011542630.1. XM_011544328.1.
XP_011542631.1. XM_011544329.1.
XP_011542632.1. XM_011544330.1.
UniGeneiHs.119387.

3D structure databases

ProteinModelPortaliO94886.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115074. 36 interactions.
IntActiO94886. 1 interaction.
STRINGi9606.ENSP00000355800.

PTM databases

iPTMnetiO94886.
PhosphoSiteiO94886.
SwissPalmiO94886.

Polymorphism and mutation databases

BioMutaiTMEM63A.

Proteomic databases

EPDiO94886.
MaxQBiO94886.
PaxDbiO94886.
PeptideAtlasiO94886.
PRIDEiO94886.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366835; ENSP00000355800; ENSG00000196187.
GeneIDi9725.
KEGGihsa:9725.
UCSCiuc001hpm.3. human.

Organism-specific databases

CTDi9725.
GeneCardsiTMEM63A.
HGNCiHGNC:29118. TMEM63A.
neXtProtiNX_O94886.
PharmGKBiPA142670776.
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1134. Eukaryota.
COG5594. LUCA.
GeneTreeiENSGT00390000011855.
HOGENOMiHOG000006559.
HOVERGENiHBG056752.
InParanoidiO94886.
OMAiGLRWWLQ.
OrthoDBiEOG7HTHG9.
PhylomeDBiO94886.
TreeFamiTF324300.

Miscellaneous databases

ChiTaRSiTMEM63A. human.
GeneWikiiTMEM63A.
GenomeRNAii9725.
PROiO94886.

Gene expression databases

BgeeiO94886.
CleanExiHS_TMEM63A.
ExpressionAtlasiO94886. baseline and differential.
GenevisibleiO94886. HS.

Family and domain databases

Gene3Di3.30.70.330. 2 hits.
InterProiIPR032880. Csc1_N.
IPR012677. Nucleotide-bd_a/b_plait.
IPR027815. PHM7_cyt.
IPR003864. RSN1_7TM.
IPR026957. TMEM63A.
[Graphical view]
PANTHERiPTHR13018:SF24. PTHR13018:SF24. 1 hit.
PfamiPF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    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].
    Tissue: Blood.
  5. Cited for: REVIEW, SUBCELLULAR LOCATION.
  6. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiCSCL1_HUMAN
AccessioniPrimary (citable) accession number: O94886
Secondary accession number(s): Q53GI7, Q5TE96, Q8N2U2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: July 6, 2016
This is version 108 of the entry and version 3 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 1
    Human chromosome 1: 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.