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Protein

CSC1-like protein 1

Gene

TMEM63A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.

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

EuPathDBiHostDB:ENSG00000196187.11.
HGNCiHGNC:29118. TMEM63A.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei50 – 70HelicalSequence analysisAdd BLAST21
Transmembranei146 – 166HelicalSequence analysisAdd BLAST21
Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21
Transmembranei462 – 482HelicalSequence analysisAdd BLAST21
Transmembranei508 – 528HelicalSequence analysisAdd BLAST21
Transmembranei553 – 573HelicalSequence analysisAdd BLAST21
Transmembranei620 – 640HelicalSequence analysisAdd BLAST21
Transmembranei665 – 685HelicalSequence analysisAdd BLAST21
Transmembranei698 – 718HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi9725.
OpenTargetsiENSG00000196187.
PharmGKBiPA142670776.

Polymorphism and mutation databases

BioMutaiTMEM63A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002807251 – 807CSC1-like protein 1Add BLAST807

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei739PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94886.
MaxQBiO94886.
PaxDbiO94886.
PeptideAtlasiO94886.
PRIDEiO94886.

PTM databases

iPTMnetiO94886.
PhosphoSitePlusiO94886.
SwissPalmiO94886.

Expressioni

Gene expression databases

BgeeiENSG00000196187.
CleanExiHS_TMEM63A.
ExpressionAtlasiO94886. baseline and differential.
GenevisibleiO94886. HS.

Organism-specific databases

HPAiHPA066504.
HPA066936.
HPA068918.

Interactioni

Protein-protein interaction databases

BioGridi115074. 44 interactors.
IntActiO94886. 1 interactor.
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.
OMAiKHMVDRH.
OrthoDBiEOG091G02SZ.
PhylomeDBiO94886.
TreeFamiTF324300.

Family and domain databases

InterProiView protein in InterPro
IPR032880. Csc1_N.
IPR027815. PHM7_cyt.
IPR000504. RRM_dom.
IPR003864. RSN1_7TM.
IPR026957. TMEM63A/B.
PANTHERiPTHR13018:SF59. PTHR13018:SF59. 1 hit.
PfamiView protein in Pfam
PF14703. PHM7_cyt. 1 hit.
PF02714. RSN1_7TM. 1 hit.
PF13967. RSN1_TM. 1 hit.
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD96654 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD96664 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5P → L in BAD96654 (Ref. 2) Curated1
Sequence conflicti5P → L in BAD96664 (Ref. 2) Curated1
Sequence conflicti206L → F in BAA34512 (PubMed:9872452).Curated1
Sequence conflicti547V → I in BAD96654 (Ref. 2) Curated1
Sequence conflicti547V → I in BAD96664 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061813121F → I. Corresponds to variant dbSNP:rs57306966Ensembl.1
Natural variantiVAR_031191622V → M. Corresponds to variant dbSNP:rs1009668Ensembl.1

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_011544328.2.
XP_011542631.1. XM_011544329.2.
XP_011542632.1. XM_011544330.2.
UniGeneiHs.119387.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCSCL1_HUMAN
AccessioniPrimary (citable) accession number: O94886
Secondary accession number(s): Q53GI7, Q5TE96, Q8N2U2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: September 27, 2017
This is version 121 of the entry and version 3 of the sequence. See 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