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Protein

Transmembrane protein 107

Gene

TMEM107

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474).By similarity1 Publication

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 107Imported
Gene namesi
Name:TMEM107Imported
ORF Names:DC20, UNQ638/PRO1268
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000179029.14.
HGNCiHGNC:28128. TMEM107.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei7 – 27HelicalSequence analysisAdd BLAST21
Transmembranei53 – 73HelicalSequence analysisAdd BLAST21
Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Transmembranei113 – 133HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 13 (MKS13)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
See also OMIM:617562
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079329100Missing in MKS13 and OFD16; does not affect subcellular location at ciliary transition zone; significantly decreases cilium assembly from patient's skin primary fibroblast; impairs protein localization to cilium from patient's skin primary fibroblast. 2 Publications1
Orofaciodigital syndrome 16 (OFD16)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive.
See also OMIM:617563
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07932845E → G in OFD16; does not affect subcellular location at ciliary transition zone. 1 Publication1
Natural variantiVAR_079329100Missing in MKS13 and OFD16; does not affect subcellular location at ciliary transition zone; significantly decreases cilium assembly from patient's skin primary fibroblast; impairs protein localization to cilium from patient's skin primary fibroblast. 2 Publications1

Keywords - Diseasei

Ciliopathy, Disease mutation, Meckel syndrome

Organism-specific databases

DisGeNETi84314.
MalaCardsiTMEM107.
MIMi617562. phenotype.
617563. phenotype.
OpenTargetsiENSG00000179029.
PharmGKBiPA142670758.

Polymorphism and mutation databases

BioMutaiTMEM107.
DMDMi74738174.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002545411 – 140Transmembrane protein 107Add BLAST140

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi79N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6UX40.
PeptideAtlasiQ6UX40.
PRIDEiQ6UX40.
TopDownProteomicsiQ6UX40-4. [Q6UX40-4]

Expressioni

Gene expression databases

BgeeiENSG00000179029.
CleanExiHS_TMEM107.
ExpressionAtlasiQ6UX40. baseline and differential.
GenevisibleiQ6UX40. HS.

Organism-specific databases

HPAiHPA052555.
HPA059653.

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex). Interacts with TMEM237, TMEM231, MKS1 and TMEM216.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MKS1Q9NXB02EBI-12845616,EBI-719269

Protein-protein interaction databases

BioGridi124040. 5 interactors.
DIPiDIP-61993N.
IntActiQ6UX40. 10 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ6UX40.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IX7Q. Eukaryota.
ENOG4112136. LUCA.
GeneTreeiENSGT00390000014827.
HOGENOMiHOG000261639.
HOVERGENiHBG094051.
InParanoidiQ6UX40.
OMAiWWIFAFC.
OrthoDBiEOG091G0RVW.
PhylomeDBiQ6UX40.
TreeFamiTF328441.

Family and domain databases

InterProiView protein in InterPro
IPR029248. TMEM107.
PANTHERiPTHR34341. PTHR34341. 1 hit.
PfamiView protein in Pfam
PF14995. TMEM107. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6UX40-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGRVSGLVPS RFLTLLAHLV VVITLFWSRD SNIQACLPLT FTPEEYDKQD
60 70 80 90 100
IQLVAALSVT LGLFAVELAG FLSGVSMFNS TQSLISIGAH CSASVALSFF
110 120 130 140
IFERWECTTY WYIFVFCSAL PAVTEMALFV TVFGLKKKPF
Length:140
Mass (Da):15,503
Last modified:July 5, 2004 - v1
Checksum:iB2ED164C9F379EDD
GO
Isoform 2 (identifier: Q6UX40-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     30-30: D → VRPTAALNPS...FNDVLNPAVY
     31-140: Missing.

Note: No experimental confirmation available.
Show »
Length:163
Mass (Da):17,605
Checksum:iFA733A83F522F896
GO
Isoform 3 (identifier: Q6UX40-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-52: Q → HPLPLCR
     111-118: WYIFVFCS → C

Note: No experimental confirmation available.
Show »
Length:139
Mass (Da):15,249
Checksum:iC78CFAD7B8CBD8C7
GO
Isoform 4 (identifier: Q6UX40-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-52: Q → HPLPLCR

Show »
Length:146
Mass (Da):16,192
Checksum:iA166E2EB1727C957
GO

Sequence cautioni

The sequence AAK38512 differs from that shown. Reason: Frameshift at positions 63 and 82.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07932845E → G in OFD16; does not affect subcellular location at ciliary transition zone. 1 Publication1
Natural variantiVAR_079329100Missing in MKS13 and OFD16; does not affect subcellular location at ciliary transition zone; significantly decreases cilium assembly from patient's skin primary fibroblast; impairs protein localization to cilium from patient's skin primary fibroblast. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02121030D → VRPTAALNPSPFPSLSGPSP TLPPPSVLPSWVFLFPAAPR PALQPAPFSLLSAGWWPRSL SPWASLQWSWPVSSQESPCS TAPRASSVSFLPAHLSHTTH FYQDSLQPPDTIVSAVANPS SSKIFNDVLNPAVY in isoform 2. 1 Publication1
Alternative sequenceiVSP_02121131 – 140Missing in isoform 2. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_02121252Q → HPLPLCR in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_021213111 – 118WYIFVFCS → C in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF311338 mRNA. Translation: AAK38512.1. Frameshift.
AY358525 mRNA. Translation: AAQ88889.1.
AK127891 mRNA. Translation: BAC87177.1.
AC129492 Genomic DNA. No translation available.
BC070231 mRNA. Translation: AAH70231.1.
BC127649 mRNA. Translation: AAI27650.1.
CCDSiCCDS11132.1. [Q6UX40-4]
CCDS45607.1. [Q6UX40-1]
RefSeqiNP_115730.2. NM_032354.3. [Q6UX40-4]
NP_898888.1. NM_183065.2. [Q6UX40-1]
UniGeneiHs.513933.

Genome annotation databases

EnsembliENST00000316425; ENSP00000314116; ENSG00000179029. [Q6UX40-4]
ENST00000437139; ENSP00000402732; ENSG00000179029. [Q6UX40-1]
ENST00000533070; ENSP00000436674; ENSG00000179029. [Q6UX40-3]
GeneIDi84314.
KEGGihsa:84314.
UCSCiuc002gkg.5. human. [Q6UX40-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTM107_HUMAN
AccessioniPrimary (citable) accession number: Q6UX40
Secondary accession number(s): A0PJV7
, Q6NSE3, Q6ZRX9, Q96T82
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: November 22, 2017
This is version 101 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot