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transmembrane protein 67

Summary

Gene Symbol

TMEM67

Organism

Homo sapiens (human)

External Links

NCBI Gene

91147

PubChem

91147

Alliance of Genome Resources

HGNC:28396

JoGo

TMEM67

TogoVar

TMEM67

Annotation

Keyword

3D-structure
Bardet-Biedl syndrome
Cell membrane
Cilium
Cilium biogenesis/degradation
Coiled coil
Cytoskeleton
Deafness
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Intellectual disability
Joubert syndrome
Meckel syndrome
Nephronophthisis
Obesity
Proteomics identification
Reference proteome
Retinitis pigmentosa
Signal
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
C9JHI2
Q5HYA8	Meckel syndrome type 3 protein Transmembrane protein 67

Annotation information from UniProt.

Gene Ontology (GO)

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

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GO Term	Evidence Code	PMID
negative regulation of centrosome duplication	IMP	19515853
non-canonical Wnt signaling pathway	IMP	34964473
ERAD pathway	IMP	19815549
cilium assembly	ISS
cilium assembly	IMP	19515853

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

proteasomal protein catabolic process [inference]

ERAD pathway

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Wnt signaling pathway [inference]

non-canonical Wnt signaling pathway

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cilium organization [inference]

cilium assembly

organelle assembly [inference]

cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

organelle assembly [inference]

cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

response to chemical [inference]

response to organic substance [inference]

response to organonitrogen compound [inference]

ERAD pathway

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

ERAD pathway

cellular response to stimulus [inference]

cellular response to stress [inference]

response to endoplasmic reticulum stress [inference]

ERAD pathway

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Wnt signaling pathway [inference]

non-canonical Wnt signaling pathway

regulation of microtubule-based process [inference]

regulation of centrosome cycle [inference]

regulation of centrosome duplication [inference]

negative regulation of centrosome duplication

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

negative regulation of cellular process [inference]

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

regulation of cytoskeleton organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

regulation of centrosome cycle [inference]

regulation of centrosome duplication [inference]

negative regulation of centrosome duplication

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

regulation of cell cycle [inference]

regulation of cell cycle process [inference]

negative regulation of cell cycle process [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

regulation of centrosome cycle [inference]

regulation of centrosome duplication [inference]

negative regulation of centrosome duplication

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of centrosome cycle [inference]

negative regulation of centrosome duplication

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	IDA	19815549
centrosome	IDA	17185389
cytoplasmic vesicle membrane	IDA	19815549
ciliary transition zone	IDA	26595381
ciliary transition zone	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

MKS complex

cellular anatomical entity [inference]

microtubule organizing center [inference]

centrosome

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

vesicle membrane [inference]

cytoplasmic vesicle membrane

bounding membrane of organelle [inference]

ciliary membrane

plasma membrane region [inference]

cell projection membrane [inference]

ciliary membrane

ciliary transition zone

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	17185389 19815549 26035863 32814053 34731008 35137054
filamin binding	IPI	22121117
unfolded protein binding	IPI	19815549

GO Hierarchy

molecular function

binding [inference]

protein binding

cytoskeletal protein binding [inference]

filamin binding

unfolded protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Meckelin

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
InterPro
Meckelin

Disease

Disease Ontology

Displaying **all 9** entries
DO ID	Disease Name	Source
DOID:0070117	Meckel syndrome 3	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14	Alliance of Genome Resources
DOID:0111001	Joubert syndrome 6	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11	Alliance of Genome Resources
DOID:0111589	COACH syndrome	Alliance of Genome Resources
DOID:10762	portal hypertension	Alliance of Genome Resources
DOID:12270	coloboma	Alliance of Genome Resources
DOID:12712	nephronophthisis	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	Alliance of Genome Resources