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Protein

CSC1-like protein 1

Gene

TMEM63A

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

Functioni

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

GO - Molecular functioni

  • calcium activated cation channel activity Source: GO_Central
  • nucleic acid binding Source: InterPro

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
neXtProtiNX_O94886

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
ProteomicsDBi50523

PTM databases

iPTMnetiO94886
PhosphoSitePlusiO94886
SwissPalmiO94886

Expressioni

Gene expression databases

BgeeiENSG00000196187 Expressed in 222 organ(s), highest expression level in corpus callosum
CleanExiHS_TMEM63A
ExpressionAtlasiO94886 baseline and differential
GenevisibleiO94886 HS

Organism-specific databases

HPAiHPA066504
HPA066936
HPA068918

Interactioni

Protein-protein interaction databases

BioGridi115074, 45 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
KOiK21989
OMAiCLFWLYF
OrthoDBiEOG091G02SZ
PhylomeDBiO94886
TreeFamiTF324300

Family and domain databases

InterProiView protein in InterPro
IPR032880 Csc1_N
IPR027815 PHM7_cyt
IPR035979 RBD_domain_sf
IPR003864 RSN1_7TM
IPR026957 TMEM63A
PANTHERiPTHR13018:SF24 PTHR13018:SF24, 1 hit
PfamiView protein in Pfam
PF14703 PHM7_cyt, 1 hit
PF02714 RSN1_7TM, 1 hit
PF13967 RSN1_TM, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6RI56X6RI56_HUMAN
CSC1-like protein 1
TMEM63A
118Annotation score:
Q2HIZ8Q2HIZ8_HUMAN
CSC1-like protein 1
TMEM63A
82Annotation score:

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 No translation available.
AL591895 Genomic DNA No translation available.
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

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 No translation available.
AL591895 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliO94886
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115074, 45 interactors
IntActiO94886, 1 interactor
STRINGi9606.ENSP00000355800

PTM databases

iPTMnetiO94886
PhosphoSitePlusiO94886
SwissPalmiO94886

Polymorphism and mutation databases

BioMutaiTMEM63A

Proteomic databases

EPDiO94886
MaxQBiO94886
PaxDbiO94886
PeptideAtlasiO94886
PRIDEiO94886
ProteomicsDBi50523

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9725
DisGeNETi9725
EuPathDBiHostDB:ENSG00000196187.11
GeneCardsiTMEM63A
HGNCiHGNC:29118 TMEM63A
HPAiHPA066504
HPA066936
HPA068918
neXtProtiNX_O94886
OpenTargetsiENSG00000196187
PharmGKBiPA142670776
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1134 Eukaryota
COG5594 LUCA
GeneTreeiENSGT00390000011855
HOGENOMiHOG000006559
HOVERGENiHBG056752
InParanoidiO94886
KOiK21989
OMAiCLFWLYF
OrthoDBiEOG091G02SZ
PhylomeDBiO94886
TreeFamiTF324300

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRSiTMEM63A human
GeneWikiiTMEM63A
GenomeRNAii9725
PROiPR:O94886

Gene expression databases

BgeeiENSG00000196187 Expressed in 222 organ(s), highest expression level in corpus callosum
CleanExiHS_TMEM63A
ExpressionAtlasiO94886 baseline and differential
GenevisibleiO94886 HS

Family and domain databases

InterProiView protein in InterPro
IPR032880 Csc1_N
IPR027815 PHM7_cyt
IPR035979 RBD_domain_sf
IPR003864 RSN1_7TM
IPR026957 TMEM63A
PANTHERiPTHR13018:SF24 PTHR13018:SF24, 1 hit
PfamiView protein in Pfam
PF14703 PHM7_cyt, 1 hit
PF02714 RSN1_7TM, 1 hit
PF13967 RSN1_TM, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
ProtoNetiSearch...

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: November 7, 2018
This is version 128 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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