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Protein

Transmembrane protein 108

Gene

TMEM108

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

Functioni

Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is neccessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport. In hippocampal neurons, required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 and recruits the WAVE1 complex to facilitate actin-dependent BDNF:NTRK2 early endocytic trafficking and mediate signaling from early endosomes.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 108Imported
Alternative name(s):
RetrolinkinCurated
Gene namesi
Name:TMEM108Imported
Synonyms:KIAA1690, RTLN
ORF Names:UNQ1875/PRO4318
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28451. TMEM108.

Subcellular locationi

  • Membrane By similarity; Multi-pass membrane protein Sequence analysis
  • Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity
  • Endosome membrane By similarity
  • Cell projectionaxon By similarity
  • Cell projectiondendrite By similarity
  • Early endosome By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Transmembranei469 – 489HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Endosome, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi66000.
OpenTargetsiENSG00000144868.
PharmGKBiPA142670759.

Polymorphism and mutation databases

BioMutaiTMEM108.
DMDMi109895211.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_000024391327 – 575Transmembrane protein 108Add BLAST549

Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6UXF1.
PaxDbiQ6UXF1.
PeptideAtlasiQ6UXF1.
PRIDEiQ6UXF1.

PTM databases

iPTMnetiQ6UXF1.
PhosphoSitePlusiQ6UXF1.

Expressioni

Gene expression databases

BgeeiENSG00000144868.
CleanExiHS_TMEM108.
ExpressionAtlasiQ6UXF1. baseline and differential.
GenevisibleiQ6UXF1. HS.

Organism-specific databases

HPAiHPA063350.

Interactioni

Subunit structurei

Interacts with DST (isoform 1). Interacts with SH3GL2. Interacts (via N-terminus) with CYFIP1 and CYFIP2; the interactions associate TMEM108 with the WAVE1 complex.By similarity

Protein-protein interaction databases

BioGridi122447. 23 interactors.
IntActiQ6UXF1. 6 interactors.
MINTiMINT-8247361.
STRINGi9606.ENSP00000324651.

Structurei

3D structure databases

ProteinModelPortaliQ6UXF1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni31 – 169Interaction with SH3GL2By similarityAdd BLAST139
Regioni173 – 407Interaction with DST (isoform 1)By similarityAdd BLAST235
Regioni490 – 575Interaction with CYFIP2By similarityAdd BLAST86

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi68 – 187Pro-richPROSITE-ProRule annotationAdd BLAST120

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEMG. Eukaryota.
ENOG410YCMK. LUCA.
GeneTreeiENSGT00390000000626.
HOGENOMiHOG000154603.
HOVERGENiHBG094052.
InParanoidiQ6UXF1.
OMAiTWKPGTA.
OrthoDBiEOG091G06WN.
PhylomeDBiQ6UXF1.
TreeFamiTF336337.

Family and domain databases

InterProiView protein in InterPro
IPR031508. TMEM108.
PfamiView protein in Pfam
PF15759. TMEM108. 1 hit.
PROSITEiView protein in PROSITE
PS00430. TONB_DEPENDENT_REC_1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6UXF1-1) [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
MKRSLQALYC QLLSFLLILA LTEALAFAIQ EPSPRESLQV LPSGTPPGTM
60 70 80 90 100
VTAPHSSTRH TSVVMLTPNP DGPPSQAAAP MATPTPRAEG HPPTHTISTI
110 120 130 140 150
AATVTAPHSE SSLSTGPAPA AMATTSSKPE GRPRGQAAPT ILLTKPPGAT
160 170 180 190 200
SRPTTAPPRT TTRRPPRPPG SSRKGAGNSS RPVPPAPGGH SRSKEGQRGR
210 220 230 240 250
NPSSTPLGQK RPLGKIFQIY KGNFTGSVEP EPSTLTPRTP LWGYSSSPQP
260 270 280 290 300
QTVAATTVPS NTSWAPTTTS LGPAKDKPGL RRAAQGGGST FTSQGGTPDA
310 320 330 340 350
TAASGAPVSP QAAPVPSQRP HHGDPQDGPS HSDSWLTVTP GTSRPLSTSS
360 370 380 390 400
GVFTAATGPT PAAFDTSVSA PSQGIPQGAS TTPQAPTHPS RVSESTISGA
410 420 430 440 450
KEETVATLTM TDRVPSPLST VVSTATGNFL NRLVPAGTWK PGTAGNISHV
460 470 480 490 500
AEGDKPQHRA TICLSKMDIA WVILAISVPI SSCSVLLTVC CMKRKKKTAN
510 520 530 540 550
PENNLSYWNN TITMDYFNRH AVELPREIQS LETSEDQLSE PRSPANGDYR
560 570
DTGMVLVNPF CQETLFVGND QVSEI
Length:575
Mass (Da):59,948
Last modified:June 27, 2006 - v2
Checksum:iED25B263837BBF33
GO
Isoform 2 (identifier: Q6UXF1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     485-487: VLL → DPI
     488-575: Missing.

Note: No experimental confirmation available.
Show »
Length:487
Mass (Da):49,836
Checksum:i270809B328B9B7C1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti108H → Y in AAQ88747 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05142784P → L2 PublicationsCorresponds to variant dbSNP:rs34111099Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019494485 – 487VLL → DPI in isoform 2. 1 Publication3
Alternative sequenceiVSP_019495488 – 575Missing in isoform 2. 1 PublicationAdd BLAST88

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358381 mRNA. Translation: AAQ88747.1.
CH471052 Genomic DNA. Translation: EAW79182.1.
CH471052 Genomic DNA. Translation: EAW79183.1.
CH471052 Genomic DNA. Translation: EAW79184.1.
BC000568 mRNA. Translation: AAH00568.1.
AB051477 mRNA. Translation: BAB21781.1.
AL136578 mRNA. Translation: CAB66513.3.
CCDSiCCDS33858.1. [Q6UXF1-1]
RefSeqiNP_001129941.1. NM_001136469.2. [Q6UXF1-1]
NP_001269794.1. NM_001282865.1.
NP_076432.1. NM_023943.3. [Q6UXF1-1]
XP_011511399.1. XM_011513097.2. [Q6UXF1-1]
UniGeneiHs.191616.

Genome annotation databases

EnsembliENST00000321871; ENSP00000324651; ENSG00000144868. [Q6UXF1-1]
ENST00000393130; ENSP00000376838; ENSG00000144868. [Q6UXF1-1]
GeneIDi66000.
KEGGihsa:66000.
UCSCiuc003eph.5. human. [Q6UXF1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358381 mRNA. Translation: AAQ88747.1.
CH471052 Genomic DNA. Translation: EAW79182.1.
CH471052 Genomic DNA. Translation: EAW79183.1.
CH471052 Genomic DNA. Translation: EAW79184.1.
BC000568 mRNA. Translation: AAH00568.1.
AB051477 mRNA. Translation: BAB21781.1.
AL136578 mRNA. Translation: CAB66513.3.
CCDSiCCDS33858.1. [Q6UXF1-1]
RefSeqiNP_001129941.1. NM_001136469.2. [Q6UXF1-1]
NP_001269794.1. NM_001282865.1.
NP_076432.1. NM_023943.3. [Q6UXF1-1]
XP_011511399.1. XM_011513097.2. [Q6UXF1-1]
UniGeneiHs.191616.

3D structure databases

ProteinModelPortaliQ6UXF1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122447. 23 interactors.
IntActiQ6UXF1. 6 interactors.
MINTiMINT-8247361.
STRINGi9606.ENSP00000324651.

PTM databases

iPTMnetiQ6UXF1.
PhosphoSitePlusiQ6UXF1.

Polymorphism and mutation databases

BioMutaiTMEM108.
DMDMi109895211.

Proteomic databases

EPDiQ6UXF1.
PaxDbiQ6UXF1.
PeptideAtlasiQ6UXF1.
PRIDEiQ6UXF1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321871; ENSP00000324651; ENSG00000144868. [Q6UXF1-1]
ENST00000393130; ENSP00000376838; ENSG00000144868. [Q6UXF1-1]
GeneIDi66000.
KEGGihsa:66000.
UCSCiuc003eph.5. human. [Q6UXF1-1]

Organism-specific databases

CTDi66000.
DisGeNETi66000.
GeneCardsiTMEM108.
HGNCiHGNC:28451. TMEM108.
HPAiHPA063350.
MIMi617361. gene.
neXtProtiNX_Q6UXF1.
OpenTargetsiENSG00000144868.
PharmGKBiPA142670759.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEMG. Eukaryota.
ENOG410YCMK. LUCA.
GeneTreeiENSGT00390000000626.
HOGENOMiHOG000154603.
HOVERGENiHBG094052.
InParanoidiQ6UXF1.
OMAiTWKPGTA.
OrthoDBiEOG091G06WN.
PhylomeDBiQ6UXF1.
TreeFamiTF336337.

Miscellaneous databases

ChiTaRSiTMEM108. human.
GenomeRNAii66000.
PROiPR:Q6UXF1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144868.
CleanExiHS_TMEM108.
ExpressionAtlasiQ6UXF1. baseline and differential.
GenevisibleiQ6UXF1. HS.

Family and domain databases

InterProiView protein in InterPro
IPR031508. TMEM108.
PfamiView protein in Pfam
PF15759. TMEM108. 1 hit.
PROSITEiView protein in PROSITE
PS00430. TONB_DEPENDENT_REC_1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTM108_HUMAN
AccessioniPrimary (citable) accession number: Q6UXF1
Secondary accession number(s): D3DNC9
, Q9BQH1, Q9BW81, Q9C0H3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: April 12, 2017
This is version 94 of the entry and version 2 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 3
    Human chromosome 3: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.