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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 entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
cytoplasm	IBA

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 **41 - 50** of 69 in total

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Species	Gene ID	Orthologous MAtrix
Chlorocebus sabaeus	103230680	CHLSB12266
Ursus maritimus	103658221	URSMA13678
Nannospalax galili	103746123	NANGA09319
Serinus canaria	103823371	SERCA20430
Rhinopithecus roxellana	104670184	RHIRO07061
Esox lucius	105005906	ESOLU22653
Microcebus murinus	105860494	MICMU01990
Dipodomys ordii	105989621	DIPOR10429
Equus asinus asinus	106831127	EQUAS27828
Sinocyclocheilus grahami	107549116	SINGR03436