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Q6UXF1

- TM108_HUMAN

UniProt

Q6UXF1 - TM108_HUMAN

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Protein

Transmembrane protein 108

Gene

TMEM108

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 108
Gene namesi
Name:TMEM108
Synonyms:KIAA1690
ORF Names:UNQ1875/PRO4318
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:28451. TMEM108.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 468442ExtracellularSequence AnalysisAdd
BLAST
Transmembranei469 – 48921HelicalSequence AnalysisAdd
BLAST
Topological domaini490 – 57586CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670759.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 575549Transmembrane protein 108PRO_0000243913Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi223 – 2231N-linked (GlcNAc...)Sequence Analysis
Glycosylationi261 – 2611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi446 – 4461N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6UXF1.
PRIDEiQ6UXF1.

PTM databases

PhosphoSiteiQ6UXF1.

Expressioni

Gene expression databases

BgeeiQ6UXF1.
CleanExiHS_TMEM108.
ExpressionAtlasiQ6UXF1. baseline and differential.
GenevestigatoriQ6UXF1.

Interactioni

Protein-protein interaction databases

BioGridi122447. 3 interactions.
IntActiQ6UXF1. 3 interactions.
MINTiMINT-8247361.
STRINGi9606.ENSP00000324651.

Structurei

3D structure databases

ProteinModelPortaliQ6UXF1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi68 – 187120Pro-richAdd
BLAST

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG87591.
GeneTreeiENSGT00390000000626.
HOGENOMiHOG000154603.
HOVERGENiHBG094052.
InParanoidiQ6UXF1.
OMAiTWKPGTA.
OrthoDBiEOG7GQXXT.
PhylomeDBiQ6UXF1.
TreeFamiTF336337.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti108 – 1081H → Y in AAQ88747. (PubMed:12975309)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti84 – 841P → L.2 Publications
Corresponds to variant rs34111099 [ dbSNP | Ensembl ].
VAR_051427

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei485 – 4873VLL → DPI in isoform 2. 1 PublicationVSP_019494
Alternative sequencei488 – 57588Missing in isoform 2. 1 PublicationVSP_019495Add
BLAST

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_005247782.1. XM_005247725.2. [Q6UXF1-1]
XP_005247783.1. XM_005247726.1. [Q6UXF1-1]
UniGeneiHs.191616.

Genome annotation databases

EnsembliENST00000321871; ENSP00000324651; ENSG00000144868. [Q6UXF1-1]
ENST00000393130; ENSP00000376838; ENSG00000144868. [Q6UXF1-1]
GeneIDi66000.
KEGGihsa:66000.
UCSCiuc003eph.3. human. [Q6UXF1-1]

Polymorphism databases

DMDMi109895211.

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 .
CCDSi CCDS33858.1. [Q6UXF1-1 ]
RefSeqi NP_001129941.1. NM_001136469.2. [Q6UXF1-1 ]
NP_001269794.1. NM_001282865.1.
NP_076432.1. NM_023943.3. [Q6UXF1-1 ]
XP_005247782.1. XM_005247725.2. [Q6UXF1-1 ]
XP_005247783.1. XM_005247726.1. [Q6UXF1-1 ]
UniGenei Hs.191616.

3D structure databases

ProteinModelPortali Q6UXF1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122447. 3 interactions.
IntActi Q6UXF1. 3 interactions.
MINTi MINT-8247361.
STRINGi 9606.ENSP00000324651.

PTM databases

PhosphoSitei Q6UXF1.

Polymorphism databases

DMDMi 109895211.

Proteomic databases

PaxDbi Q6UXF1.
PRIDEi Q6UXF1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321871 ; ENSP00000324651 ; ENSG00000144868 . [Q6UXF1-1 ]
ENST00000393130 ; ENSP00000376838 ; ENSG00000144868 . [Q6UXF1-1 ]
GeneIDi 66000.
KEGGi hsa:66000.
UCSCi uc003eph.3. human. [Q6UXF1-1 ]

Organism-specific databases

CTDi 66000.
GeneCardsi GC03P132757.
HGNCi HGNC:28451. TMEM108.
neXtProti NX_Q6UXF1.
PharmGKBi PA142670759.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG87591.
GeneTreei ENSGT00390000000626.
HOGENOMi HOG000154603.
HOVERGENi HBG094052.
InParanoidi Q6UXF1.
OMAi TWKPGTA.
OrthoDBi EOG7GQXXT.
PhylomeDBi Q6UXF1.
TreeFami TF336337.

Miscellaneous databases

ChiTaRSi TMEM108. human.
GenomeRNAii 66000.
NextBioi 67505.
PROi Q6UXF1.

Gene expression databases

Bgeei Q6UXF1.
CleanExi HS_TMEM108.
ExpressionAtlasi Q6UXF1. baseline and differential.
Genevestigatori Q6UXF1.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-84.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  4. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
    DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-575 (ISOFORM 2), VARIANT LEU-84.
    Tissue: Brain.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 113-575 (ISOFORM 1).
    Tissue: Amygdala.

Entry informationi

Entry nameiTM108_HUMAN
AccessioniPrimary (citable) accession number: Q6UXF1
Secondary accession number(s): D3DNC9
, Q9BQH1, Q9BW81, Q9C0H3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: November 26, 2014
This is version 76 of the entry and version 2 of the sequence. [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

External Data

Dasty 3