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transmembrane and coiled-coil domains 1

Summary

Gene Symbol

TMCO1

Organism

Homo sapiens (human)

External Links

NCBI Gene

54499

PubChem

54499

Alliance of Genome Resources

HGNC:18188

Annotation

Keyword

3D-structure
Alternative initiation
Alternative splicing
Calcium channel
Coiled coil
Disease variant
Endoplasmic reticulum
Glaucoma
Golgi apparatus
Intellectual disability
Mitochondrion
Phosphoprotein
Reference proteome
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
B7Z591
Q9UM00	GEL complex subunit TMCO1 Transmembrane and coiled-coil domain-containing protein 1 Transmembrane and coiled-coil domains protein 4 Xenogeneic cross-immune protein PCIA3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum calcium ion homeostasis	IBA IDA	27212239
multi-pass transmembrane protein insertion into ER membrane	IDA	36261522
calcium ion transmembrane transport	IDA	27212239
ossification	ISS
ER overload response	IDA	27212239

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

ER-nucleus signaling pathway [inference]

ER overload response

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

protein localization to membrane [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ER overload response

cellular response to biotic stimulus [inference]

ER overload response

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

calcium ion transmembrane transport

multicellular organismal process [inference]

ossification

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis [inference]

endoplasmic reticulum calcium ion homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis [inference]

endoplasmic reticulum calcium ion homeostasis

monoatomic cation homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis [inference]

endoplasmic reticulum calcium ion homeostasis

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis [inference]

endoplasmic reticulum calcium ion homeostasis

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis [inference]

endoplasmic reticulum calcium ion homeostasis

inorganic ion homeostasis [inference]

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis [inference]

endoplasmic reticulum calcium ion homeostasis

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ER overload response

response to biotic stimulus [inference]

cellular response to biotic stimulus [inference]

ER overload response

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ER overload response

cellular response to biotic stimulus [inference]

ER overload response

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

protein localization to membrane [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

calcium ion transport [inference]

calcium ion transmembrane transport

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

calcium ion transmembrane transport

organic substance transport [inference]

calcium ion transport [inference]

calcium ion transmembrane transport

establishment of protein localization [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

protein localization to membrane [inference]

establishment of protein localization to membrane [inference]

protein insertion into membrane [inference]

protein insertion into ER membrane [inference]

multi-pass transmembrane protein insertion into ER membrane

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

ER-nucleus signaling pathway [inference]

ER overload response

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
mitochondrial membrane	IEA
endoplasmic reticulum membrane	IDA	27212239
multi-pass translocon complex	IDA	36261522
Golgi membrane	IEA
endoplasmic reticulum	IBA IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

ER membrane insertion complex [inference]

multi-pass translocon complex

cellular anatomical entity [inference]

cytoplasm

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	32296183 32820719
ribosome binding	IDA	32820719
calcium channel activity	IBA IDA	27212239

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity [inference]

calcium channel activity

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity [inference]

calcium channel activity

metal ion transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

inorganic molecular entity transmembrane transporter activity [inference]

inorganic cation transmembrane transporter activity [inference]

metal ion transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity [inference]

calcium channel activity

salt transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

binding [inference]

protein binding

protein-containing complex binding [inference]

ribonucleoprotein complex binding [inference]

ribosome binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Calcium load-activated calcium channel

Functional Category

O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 5** entries
Gene Ontology
calcium channel activity
calcium ion transmembrane transport
calcium ion transport
endoplasmic reticulum calcium ion homeostasis
monoatomic ion transport

Displaying **all 2** entries
InterPro
Calcium load-activated calcium channel
Integral membrane protein EMC3/TMCO1-like

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Alliance of Genome Resources
DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 69 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	35174		FB:FBgn0032746
Mus musculus	68944		MGI:1921173	MOUSE29791
Caenorhabditis elegans	174352		WB:WBGene00009045
Rattus norvegicus	289196		RGD:1359178
Danio rerio	378980		ZFIN:ZDB-GENE-050417-344	DANRE43226
Pan troglodytes	469565	9598_0:000177		PANTR22904
Canis lupus familiaris	478992			CANLF14375
Xenopus tropicalis	548724		Xenbase:XB-GENE-942601
Bos taurus	614715			BOVIN25463
Macaca mulatta	698272			MACMU22085