UniProtKB - O94886 (CSCL1_HUMAN)
Protein
CSC1-like protein 1
Gene
TMEM63A
Organism
Homo sapiens (Human)
Status
Functioni
Acts as an osmosensitive calcium-permeable cation channel (PubMed:30382938, PubMed:31587869). Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion (PubMed:30382938, PubMed:31587869).By similarity2 Publications
GO - Molecular functioni
- calcium activated cation channel activity Source: GO_Central
- mechanosensitive ion channel activity Source: UniProtKB
- nucleic acid binding Source: InterPro
- osmolarity-sensing cation channel activity Source: UniProtKB
GO - Biological processi
- neutrophil degranulation Source: Reactome
Keywordsi
Molecular function | Ion channel |
Biological process | Ion transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | O94886 |
Reactomei | R-HSA-6798695, Neutrophil degranulation |
Names & Taxonomyi
Protein namesi | Recommended name: CSC1-like protein 1Alternative name(s): Transmembrane protein 63A |
Gene namesi | Name:TMEM63A Synonyms:KIAA0489, KIAA0792 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29118, TMEM63A |
MIMi | 618685, gene |
neXtProti | NX_O94886 |
VEuPathDBi | HostDB:ENSG00000196187.11 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
Cytoskeleton
- centriolar satellite Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
- specific granule membrane Source: Reactome
- tertiary granule membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 50 – 70 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 146 – 166 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 191 – 211 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 423 – 443 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 462 – 482 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 508 – 528 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 553 – 573 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 620 – 640 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 665 – 685 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 698 – 718 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083043 | 168 | G → E in HLD19; loss of mechanosensitive ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_083044 | 462 | I → N in HLD19; loss of mechanosensitive ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_083045 | 567 | G → S in HLD19; loss of mechanosensitive ion channel activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, LeukodystrophyOrganism-specific databases
DisGeNETi | 9725 |
MalaCardsi | TMEM63A |
MIMi | 618688, phenotype |
OpenTargetsi | ENSG00000196187 |
PharmGKBi | PA142670776 |
Miscellaneous databases
Pharosi | O94886, Tdark |
Genetic variation databases
BioMutai | TMEM63A |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000280725 | 1 – 807 | CSC1-like protein 1Add BLAST | 807 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 739 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O94886 |
jPOSTi | O94886 |
MassIVEi | O94886 |
MaxQBi | O94886 |
PaxDbi | O94886 |
PeptideAtlasi | O94886 |
PRIDEi | O94886 |
ProteomicsDBi | 50523 |
PTM databases
GlyGeni | O94886, 1 site |
iPTMneti | O94886 |
PhosphoSitePlusi | O94886 |
SwissPalmi | O94886 |
Expressioni
Gene expression databases
Bgeei | ENSG00000196187, Expressed in corpus callosum and 232 other tissues |
ExpressionAtlasi | O94886, baseline and differential |
Genevisiblei | O94886, HS |
Organism-specific databases
HPAi | ENSG00000196187, Tissue enhanced (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115074, 45 interactors |
IntActi | O94886, 41 interactors |
MINTi | O94886 |
STRINGi | 9606.ENSP00000355800 |
Miscellaneous databases
RNActi | O94886, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1134, Eukaryota |
GeneTreei | ENSGT00940000159576 |
HOGENOMi | CLU_015647_2_0_1 |
InParanoidi | O94886 |
OMAi | LITWPVL |
OrthoDBi | 395194at2759 |
PhylomeDBi | O94886 |
TreeFami | TF324300 |
Family and domain databases
InterProi | View protein in InterPro IPR032880, Csc1_N IPR027815, PHM7_cyt IPR035979, RBD_domain_sf IPR003864, RSN1_7TM IPR026957, TMEM63A |
PANTHERi | PTHR13018:SF24, PTHR13018:SF24, 1 hit |
Pfami | View protein in Pfam PF14703, PHM7_cyt, 1 hit PF02714, RSN1_7TM, 1 hit PF13967, RSN1_TM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketX6RI56 | X6RI56_HUMAN | CSC1-like protein 1 | TMEM63A | 118 | Annotation score: | ||
Q2HIZ8 | Q2HIZ8_HUMAN | CSC1-like protein 1 | TMEM63A | 82 | Annotation score: |
Sequence cautioni
The sequence BAA34512 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAD96654 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAD96664 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 5 | P → L in BAD96654 (Ref. 2) Curated | 1 | |
Sequence conflicti | 5 | P → L in BAD96664 (Ref. 2) Curated | 1 | |
Sequence conflicti | 206 | L → F in BAA34512 (PubMed:9872452).Curated | 1 | |
Sequence conflicti | 547 | V → I in BAD96654 (Ref. 2) Curated | 1 | |
Sequence conflicti | 547 | V → I in BAD96664 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061813 | 121 | F → I. Corresponds to variant dbSNP:rs57306966Ensembl. | 1 | |
Natural variantiVAR_083043 | 168 | G → E in HLD19; loss of mechanosensitive ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_083044 | 462 | I → N in HLD19; loss of mechanosensitive ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_083045 | 567 | G → S in HLD19; loss of mechanosensitive ion channel activity. 1 Publication | 1 | |
Natural variantiVAR_031191 | 622 | V → 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 |
CCDSi | CCDS31042.1 |
RefSeqi | NP_055513.2, NM_014698.2 XP_011542630.1, XM_011544328.2 XP_011542631.1, XM_011544329.2 XP_011542632.1, XM_011544330.2 |
Genome annotation databases
Ensembli | ENST00000366835; ENSP00000355800; ENSG00000196187 |
GeneIDi | 9725 |
KEGGi | hsa:9725 |
UCSCi | uc001hpm.3, human |
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 |
CCDSi | CCDS31042.1 |
RefSeqi | NP_055513.2, NM_014698.2 XP_011542630.1, XM_011544328.2 XP_011542631.1, XM_011544329.2 XP_011542632.1, XM_011544330.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115074, 45 interactors |
IntActi | O94886, 41 interactors |
MINTi | O94886 |
STRINGi | 9606.ENSP00000355800 |
PTM databases
GlyGeni | O94886, 1 site |
iPTMneti | O94886 |
PhosphoSitePlusi | O94886 |
SwissPalmi | O94886 |
Genetic variation databases
BioMutai | TMEM63A |
Proteomic databases
EPDi | O94886 |
jPOSTi | O94886 |
MassIVEi | O94886 |
MaxQBi | O94886 |
PaxDbi | O94886 |
PeptideAtlasi | O94886 |
PRIDEi | O94886 |
ProteomicsDBi | 50523 |
Protocols and materials databases
Antibodypediai | 34647, 72 antibodies |
Genome annotation databases
Ensembli | ENST00000366835; ENSP00000355800; ENSG00000196187 |
GeneIDi | 9725 |
KEGGi | hsa:9725 |
UCSCi | uc001hpm.3, human |
Organism-specific databases
CTDi | 9725 |
DisGeNETi | 9725 |
GeneCardsi | TMEM63A |
HGNCi | HGNC:29118, TMEM63A |
HPAi | ENSG00000196187, Tissue enhanced (brain) |
MalaCardsi | TMEM63A |
MIMi | 618685, gene 618688, phenotype |
neXtProti | NX_O94886 |
OpenTargetsi | ENSG00000196187 |
PharmGKBi | PA142670776 |
VEuPathDBi | HostDB:ENSG00000196187.11 |
HUGEi | Search... Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1134, Eukaryota |
GeneTreei | ENSGT00940000159576 |
HOGENOMi | CLU_015647_2_0_1 |
InParanoidi | O94886 |
OMAi | LITWPVL |
OrthoDBi | 395194at2759 |
PhylomeDBi | O94886 |
TreeFami | TF324300 |
Enzyme and pathway databases
PathwayCommonsi | O94886 |
Reactomei | R-HSA-6798695, Neutrophil degranulation |
Miscellaneous databases
BioGRID-ORCSi | 9725, 8 hits in 880 CRISPR screens |
ChiTaRSi | TMEM63A, human |
GeneWikii | TMEM63A |
GenomeRNAii | 9725 |
Pharosi | O94886, Tdark |
PROi | PR:O94886 |
RNActi | O94886, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196187, Expressed in corpus callosum and 232 other tissues |
ExpressionAtlasi | O94886, baseline and differential |
Genevisiblei | O94886, HS |
Family and domain databases
InterProi | View protein in InterPro IPR032880, Csc1_N IPR027815, PHM7_cyt IPR035979, RBD_domain_sf IPR003864, RSN1_7TM IPR026957, TMEM63A |
PANTHERi | PTHR13018:SF24, PTHR13018:SF24, 1 hit |
Pfami | View protein in Pfam PF14703, PHM7_cyt, 1 hit PF02714, RSN1_7TM, 1 hit PF13967, RSN1_TM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CSCL1_HUMAN | |
Accessioni | O94886Primary (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: | February 10, 2021 | |
This is version 142 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families