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UniProtKB - O94886 (CSCL1_HUMAN)

Entry version 142 (10 Feb 2021)
Sequence version 3 (20 Mar 2007)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport
LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O94886

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6798695, Neutrophil degranulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
CSC1-like protein 1
Alternative name(s):
Transmembrane protein 63A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMEM63A
Synonyms:KIAA0489, KIAA0792
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29118, TMEM63A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		618685, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O94886

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000196187.11

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Cell membrane, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083043168G → E in HLD19; loss of mechanosensitive ion channel activity. 1 Publication1
Natural variantiVAR_083044462I → N in HLD19; loss of mechanosensitive ion channel activity. 1 Publication1
Natural variantiVAR_083045567G → S in HLD19; loss of mechanosensitive ion channel activity. 1 Publication1

Keywords - Diseasei

Disease variant, Leukodystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		9725

MalaCards human disease database

More...MalaCardsi		TMEM63A
MIMi618688, phenotype

Open Targets

More...OpenTargetsi		ENSG00000196187

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670776

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O94886, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMEM63A

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002807251 – 807CSC1-like protein 1Add BLAST807

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei739PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O94886

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O94886

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O94886

MaxQB - The MaxQuant DataBase

More...MaxQBi		O94886

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O94886

PeptideAtlas

More...PeptideAtlasi		O94886

PRoteomics IDEntifications database

More...PRIDEi		O94886

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50523

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O94886, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O94886

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O94886

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O94886

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196187, Expressed in corpus callosum and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O94886, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O94886, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000196187, Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115074, 45 interactors

Protein interaction database and analysis system

More...IntActi		O94886, 41 interactors

Molecular INTeraction database

More...MINTi		O94886

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355800

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O94886, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CSC1 (TC 1.A.17) family. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1134, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159576

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_015647_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O94886

Identification of Orthologs from Complete Genome Data

More...OMAi		LITWPVL

Database of Orthologous Groups

More...OrthoDBi		395194at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O94886

TreeFam database of animal gene trees

More...TreeFami		TF324300

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR032880, Csc1_N
IPR027815, PHM7_cyt
IPR035979, RBD_domain_sf
IPR003864, RSN1_7TM
IPR026957, TMEM63A

The PANTHER Classification System

More...PANTHERi		PTHR13018:SF24, PTHR13018:SF24, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14703, PHM7_cyt, 1 hit
PF02714, RSN1_7TM, 1 hit
PF13967, RSN1_TM, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54928, SSF54928, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD7C32A11F7FEDF63
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q2HIZ8Q2HIZ8_HUMAN
CSC1-like protein 1
TMEM63A
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_083043168G → E in HLD19; loss of mechanosensitive ion channel activity. 1 Publication1
Natural variantiVAR_083044462I → N in HLD19; loss of mechanosensitive ion channel activity. 1 Publication1
Natural variantiVAR_083045567G → S in HLD19; loss of mechanosensitive ion channel activity. 1 Publication1
Natural variantiVAR_031191622V → M. Corresponds to variant dbSNP:rs1009668Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31042.1

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000366835; ENSP00000355800; ENSG00000196187

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9725

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9725

UCSC genome browser

More...UCSCi		uc001hpm.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115074, 45 interactors
IntActiO94886, 41 interactors
MINTiO94886
STRINGi9606.ENSP00000355800

PTM databases

GlyGeniO94886, 1 site
iPTMnetiO94886
PhosphoSitePlusiO94886
SwissPalmiO94886

Genetic variation databases

BioMutaiTMEM63A

Proteomic databases

EPDiO94886
jPOSTiO94886
MassIVEiO94886
MaxQBiO94886
PaxDbiO94886
PeptideAtlasiO94886
PRIDEiO94886
ProteomicsDBi50523

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34647, 72 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9725
DisGeNETi9725

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMEM63A
HGNCiHGNC:29118, TMEM63A
HPAiENSG00000196187, Tissue enhanced (brain)
MalaCardsiTMEM63A
MIMi618685, gene
618688, phenotype
neXtProtiNX_O94886
OpenTargetsiENSG00000196187
PharmGKBiPA142670776
VEuPathDBiHostDB:ENSG00000196187.11

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...
Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1134, Eukaryota
GeneTreeiENSGT00940000159576
HOGENOMiCLU_015647_2_0_1
InParanoidiO94886
OMAiLITWPVL
OrthoDBi395194at2759
PhylomeDBiO94886
TreeFamiTF324300

Enzyme and pathway databases

PathwayCommonsiO94886
ReactomeiR-HSA-6798695, Neutrophil degranulation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9725, 8 hits in 880 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TMEM63A, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TMEM63A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9725
PharosiO94886, Tdark

Protein Ontology

More...PROi		PR:O94886
RNActiO94886, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196187, Expressed in corpus callosum and 232 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCSCL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O94886
Secondary accession number(s): Q53GI7, Q5TE96, Q8N2U2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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