Gene: Tmem107

Basic information

Tag Content
Uniprot ID Q9CPV0; B2RPS9; Q5SUQ6; Q9CZ71;
Entrez ID 66910
Genbank protein ID BAB28560.1; BAE32485.1; AAI20500.1; BAB22768.1; AAI37585.1; AAH96686.1;
Genbank nucleotide ID NM_028336.3; NM_025838.2;
Ensembl protein ID ENSMUSP00000091624; ENSMUSP00000075363;
Ensembl nucleotide ID ENSMUSG00000020895
Gene name Transmembrane protein 107
Gene symbol Tmem107
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 22698544; 28954202;
Functional description Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types. During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26595381, PubMed:26518474).
Sequence
MGRISGLVPS RFLTLLAHLV VVITLFWSRE SNIQACLPLK FTPEEYEKQD NQLVAALCLT 60
LGLFAVELAG FLSGVSMFNS TQSLLSIAAH CSASVALSFF VFERWECTTY WYIFTFCSAF 120
PAVTETALFI AVFGLKKKPF

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTMEM107509812A4IFS9Bos taurusPredictionMore>>
1:1 orthologTMEM107102173966A0A452G122Capra hircusPredictionMore>>
1:1 orthologTMEM107100062420F6ZQI0Equus caballusPredictionMore>>
1:1 orthologTMEM10784314Q6UX40Homo sapiensPredictionMore>>
1:1 orthologTmem10766910Q9CPV0CPOMus musculusPublicationMore>>
1:1 orthologTMEM107100620379I3LUH9Sus scrofaPredictionMore>>
1:1 orthologTmem107691750D3ZFW5Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND

GO:Biological Process

GO ID GO Term Evidence
GO:0021532 neural tube patterningIMP
GO:0042733 embryonic digit morphogenesisIMP
GO:0060271 cilium assemblyISS
GO:0060271 cilium assemblyISO
GO:0060271 cilium assemblyIMP
GO:1904491 protein localization to ciliary transition zoneIBA
GO:1904491 protein localization to ciliary transition zoneIMP
GO:1905515 non-motile cilium assemblyISO
GO:1905515 non-motile cilium assemblyIBA
GO:1905515 non-motile cilium assemblyIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0016021 integral component of membraneIEA
GO:0035869 ciliary transition zoneISO
GO:0035869 ciliary transition zoneIBA
GO:0035869 ciliary transition zoneIDA
GO:0036038 MKS complexISS
GO:0036038 MKS complexISO
GO:0036038 MKS complexIBA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0966 Cell projection
KW-0970 Cilium biogenesis/degradation
KW-0217 Developmental protein
KW-0225 Disease mutation
KW-0325 Glycoprotein
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR029248 TMEM107

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF14995 TMEM107

Protein-miRNA interaction