TMEM107

Protein identityUniProt · HPA

UniProt accession

Q6UX40

Gene

TMEM107

Ensembl

ENSG00000179029

Chromosome

17

Canonical length

140 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

140 residues, UniProt reviewed canonical sequence.

>Q6UX40|TMEM107
     1  MGRVSGLVPS RFLTLLAHLV VVITLFWSRD SNIQACLPLT FTPEEYDKQD IQLVAALSVT
    61  LGLFAVELAG FLSGVSMFNS TQSLISIGAH CSASVALSFF IFERWECTTY WYIFVFCSAL
   121  PAVTEMALFV TVFGLKKKPF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM107 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM107.

Disease | AllUniProt

Conditions TMEM107 is implicated in, by any mechanism.

• Meckel syndrome 13 (MKS13) MIM:617562
• Orofaciodigital syndrome 16 (OFD16) MIM:617563

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 128 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Meckel syndrome 13
• Orofaciodigital syndrome 16
• Orofaciodigital syndrome
• Joubert syndrome 29
• Leukoencephalopathy with calcifications and cysts

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.9

gnomAD pLI

0

gnomAD missense Z

1.09

DepMap mean gene effect

0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cilium assembly
• craniofacial suture morphogenesis
• detection of nodal flow
• embryonic digit morphogenesis
• neural tube patterning
• non-motile cilium assembly
• protein localization to ciliary transition zone
• regulation of gene expression
• roof of mouth development

Cellular components

• ciliary transition zone
• membrane
• MKS complex

Protein domainsUniProt · Pfam · InterPro

• Transmembrane protein 107
• Transmembrane protein

KeywordsUniProt

• Cell projection
• Ciliopathy
• Cilium biogenesis/degradation
• Developmental protein
• Glycoprotein
• Meckel syndrome
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of TMEM107 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MKS1
• TMEM216
• TMEM231
• TMEM237