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Entry version 157 (16 Oct 2019)
Sequence version 2 (10 Apr 2019)
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Protein

Calcium load-activated calcium channel

Gene

TMCO1

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

Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239).1 Publication

<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

GO - Biological processi

<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 functionCalcium channel, Ion channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.106.1.1 the calcium load-activated calcium channel (clac) family

<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_and_taxonomy_section">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:
Calcium load-activated calcium channel1 Publication
Short name:
CLAC channel1 Publication
Alternative name(s):
Transmembrane and coiled-coil domain-containing protein 1Curated
Transmembrane and coiled-coil domains protein 4Curated
Xenogeneic cross-immune protein PCIA31 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TMCO1Imported
Synonyms:TMCC4Imported
ORF Names:PNAS-101 Publication, PNAS-1361 Publication, UNQ151/PRO1771 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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:18188 TMCO1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614123 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UM00

<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_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 60Cytoplasmic1 PublicationAdd BLAST60
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 141Lumenal1 PublicationAdd BLAST60
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Topological domaini163 – 188Cytoplasmic1 PublicationAdd BLAST26
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei189 – 205Pore-forming1 PublicationAdd BLAST17
Topological domaini206 – 239Cytoplasmic1 PublicationAdd BLAST34

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, 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

Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.
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_07665298 – 239Missing in CFSMR. 1 PublicationAdd BLAST142
Natural variantiVAR_076653138 – 239Missing in CFSMR. 2 PublicationsAdd BLAST102
Glaucoma, primary open angle (POAG)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi191D → A: Abolishes the calcium channel activity. 1 Publication1
Mutagenesisi191D → E: Retains some of the calcium channel activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Glaucoma, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
54499

MalaCards human disease database

More...
MalaCardsi
TMCO1
MIMi137760 phenotype
213980 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000143183

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1394 Cerebrofaciothoracic dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670792

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UM00

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMCO1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74753399

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002440761 – 239Calcium load-activated calcium channelAdd BLAST239

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 residuei111PhosphoserineCombined sources1
Modified residuei239PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UM00

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UM00

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UM00

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

More...
PaxDbi
Q9UM00

PeptideAtlas

More...
PeptideAtlasi
Q9UM00

PRoteomics IDEntifications database

More...
PRIDEi
Q9UM00

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85163 [Q9UM00-1]
85164 [Q9UM00-2]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9UM00-1 [Q9UM00-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UM00

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

More...
PhosphoSitePlusi
Q9UM00

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9UM00

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney (PubMed:10393320, PubMed:20018682). Present in most tissues in the eye, including the trabecular meshwork and retina (at protein level) (PubMed:22714896).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143183 Expressed in 229 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UM00 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UM00 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054768

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer and homotetramer (PubMed:27212239). Homodimer under resting conditions; forms homotetramers following and endoplasmic reticulum calcium overload (PubMed:27212239).

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119995, 52 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UM00, 33 interactors

Molecular INTeraction database

More...
MINTi
Q9UM00

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000480514

<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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili83 – 140Sequence analysisAdd BLAST58

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi231 – 234Poly-Pro4

<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 TMCO1 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3312 Eukaryota
ENOG410XR8B LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002659

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000240371

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UM00

KEGG Orthology (KO)

More...
KOi
K21891

Identification of Orthologs from Complete Genome Data

More...
OMAi
WADTLLI

Database of Orthologous Groups

More...
OrthoDBi
1506634at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UM00

TreeFam database of animal gene trees

More...
TreeFami
TF315045

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002809 EMC3/TMCO1
IPR008559 TMCO1

The PANTHER Classification System

More...
PANTHERi
PTHR20917 PTHR20917, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01956 EMC3_TMCO1, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF023322 DUF841_euk, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01415 DUF106, 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_length">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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UM00-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPRKRKCDLR AVRVGLLLGG GGVYGSRFRF TFPGCRALSP WRVRVQRRRC
60 70 80 90 100
EMSTMFADTL LIVFISVCTA LLAEGITWVL VYRTDKYKRL KAEVEKQSKK
110 120 130 140 150
LEKKKETITE SAGRQQKKKI ERQEEKLKNN NRDLSMVRMK SMFAIGFCFT
160 170 180 190 200
ALMGMFNSIF DGRVVAKLPF TPLSYIQGLS HRNLLGDDTT DCSFIFLYIL
210 220 230
CTMSIRQNIQ KILGLAPSRA ATKQAGGFLG PPPPSGKFS
Length:239
Mass (Da):27,079
Last modified:April 10, 2019 - v2
<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:i8364C78CCA2DA982
GO
Isoform 2 (identifier: Q9UM00-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-133: Missing.

Note: No experimental confirmation available.
Show »
Length:220
Mass (Da):24,670
Checksum:iD38746A446E2595F
GO
Isoform 3 (identifier: Q9UM00-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.

Show »
Length:188
Mass (Da):21,175
Checksum:iFB77BFC4F0629EB1
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KS45J3KS45_HUMAN
Calcium load-activated calcium chan...
TMCO1
143Annotation 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>
J3QQY2J3QQY2_HUMAN
Calcium load-activated calcium chan...
TMCO1 hCG_1766418
104Annotation 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>
J3KTQ7J3KTQ7_HUMAN
Calcium load-activated calcium chan...
TMCO1 hCG_1766418
152Annotation 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>
J3QRB3J3QRB3_HUMAN
Calcium load-activated calcium chan...
TMCO1
95Annotation 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 AAK07514 differs from that shown. Reason: Frameshift.Curated
The sequence AAK07549 differs from that shown. Reason: Frameshift.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 conflicti180S → P in AAK07514 (Ref. 4) Curated1
Sequence conflicti180S → P in AAK07549 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07665298 – 239Missing in CFSMR. 1 PublicationAdd BLAST142
Natural variantiVAR_076653138 – 239Missing in CFSMR. 2 PublicationsAdd BLAST102

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0600861 – 51Missing in isoform 3. Add BLAST51
Alternative sequenceiVSP_019505115 – 133Missing in isoform 2. 1 PublicationAdd BLAST19

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB020980 mRNA Translation: BAA86974.1
AY763589 mRNA Translation: AAV34755.1
AF070626 mRNA Translation: AAC25388.1
AF274935 mRNA Translation: AAK07514.1 Frameshift.
AF277194 mRNA Translation: AAK07549.1 Frameshift.
AY359027 mRNA Translation: AAQ89386.1
AK316610 mRNA Translation: BAG38197.1
AL451074 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90763.1
BC000104 mRNA Translation: AAH00104.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1251.2 [Q9UM00-3]

NCBI Reference Sequences

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RefSeqi
NP_061899.2, NM_019026.4 [Q9UM00-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000367881; ENSP00000356856; ENSG00000143183 [Q9UM00-3]
ENST00000392129; ENSP00000375975; ENSG00000143183 [Q9UM00-1]
ENST00000612311; ENSP00000480514; ENSG00000143183 [Q9UM00-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54499

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54499

UCSC genome browser

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UCSCi
uc001gdj.6 human
uc057mzb.1 human [Q9UM00-3]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing

<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
AB020980 mRNA Translation: BAA86974.1
AY763589 mRNA Translation: AAV34755.1
AF070626 mRNA Translation: AAC25388.1
AF274935 mRNA Translation: AAK07514.1 Frameshift.
AF277194 mRNA Translation: AAK07549.1 Frameshift.
AY359027 mRNA Translation: AAQ89386.1
AK316610 mRNA Translation: BAG38197.1
AL451074 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90763.1
BC000104 mRNA Translation: AAH00104.1
CCDSiCCDS1251.2 [Q9UM00-3]
RefSeqiNP_061899.2, NM_019026.4 [Q9UM00-3]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi119995, 52 interactors
IntActiQ9UM00, 33 interactors
MINTiQ9UM00
STRINGi9606.ENSP00000480514

Protein family/group databases

TCDBi1.A.106.1.1 the calcium load-activated calcium channel (clac) family

PTM databases

iPTMnetiQ9UM00
PhosphoSitePlusiQ9UM00
SwissPalmiQ9UM00

Polymorphism and mutation databases

BioMutaiTMCO1
DMDMi74753399

Proteomic databases

EPDiQ9UM00
jPOSTiQ9UM00
MassIVEiQ9UM00
PaxDbiQ9UM00
PeptideAtlasiQ9UM00
PRIDEiQ9UM00
ProteomicsDBi85163 [Q9UM00-1]
85164 [Q9UM00-2]
TopDownProteomicsiQ9UM00-1 [Q9UM00-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
54499

Genome annotation databases

EnsembliENST00000367881; ENSP00000356856; ENSG00000143183 [Q9UM00-3]
ENST00000392129; ENSP00000375975; ENSG00000143183 [Q9UM00-1]
ENST00000612311; ENSP00000480514; ENSG00000143183 [Q9UM00-3]
GeneIDi54499
KEGGihsa:54499
UCSCiuc001gdj.6 human
uc057mzb.1 human [Q9UM00-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54499
DisGeNETi54499

GeneCards: human genes, protein and diseases

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GeneCardsi
TMCO1
HGNCiHGNC:18188 TMCO1
HPAiHPA054768
MalaCardsiTMCO1
MIMi137760 phenotype
213980 phenotype
614123 gene
neXtProtiNX_Q9UM00
OpenTargetsiENSG00000143183
Orphaneti1394 Cerebrofaciothoracic dysplasia
PharmGKBiPA142670792

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3312 Eukaryota
ENOG410XR8B LUCA
GeneTreeiENSGT00390000002659
HOGENOMiHOG000240371
InParanoidiQ9UM00
KOiK21891
OMAiWADTLLI
OrthoDBi1506634at2759
PhylomeDBiQ9UM00
TreeFamiTF315045

Miscellaneous databases

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

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ChiTaRSi
TMCO1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TMCO1

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

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GenomeRNAii
54499
PharosiQ9UM00

Protein Ontology

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PROi
PR:Q9UM00

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143183 Expressed in 229 organ(s), highest expression level in testis
ExpressionAtlasiQ9UM00 baseline and differential
GenevisibleiQ9UM00 HS

Family and domain databases

InterProiView protein in InterPro
IPR002809 EMC3/TMCO1
IPR008559 TMCO1
PANTHERiPTHR20917 PTHR20917, 1 hit
PfamiView protein in Pfam
PF01956 EMC3_TMCO1, 1 hit
PIRSFiPIRSF023322 DUF841_euk, 1 hit
SMARTiView protein in SMART
SM01415 DUF106, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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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 nameiTMCO1_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: Q9UM00
Secondary accession number(s): B2REA0
, J9JIE6, O75545, Q9BZS3, Q9BZU8
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: April 10, 2019
Last modified: October 16, 2019
This is version 157 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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