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Q6UX40 (TM107_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 107
Gene names
Name:TMEM107
ORF Names:DC20, UNQ638/PRO1268
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length140 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence caution

The sequence AAK38512.1 differs from that shown. Reason: Frameshift at positions 63 and 82.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcilium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

neural tube patterning

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6UX40-1)

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.
Isoform 2 (identifier: Q6UX40-2)

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.
Isoform 3 (identifier: Q6UX40-3)

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.
Isoform 4 (identifier: Q6UX40-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 140140Transmembrane protein 107
PRO_0000254541

Regions

Transmembrane7 – 2721Helical; Potential
Transmembrane53 – 7321Helical; Potential
Transmembrane83 – 10321Helical; Potential
Transmembrane113 – 13321Helical; Potential

Amino acid modifications

Glycosylation791N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence301D → VRPTAALNPSPFPSLSGPSP TLPPPSVLPSWVFLFPAAPR PALQPAPFSLLSAGWWPRSL SPWASLQWSWPVSSQESPCS TAPRASSVSFLPAHLSHTTH FYQDSLQPPDTIVSAVANPS SSKIFNDVLNPAVY in isoform 2.
VSP_021210
Alternative sequence31 – 140110Missing in isoform 2.
VSP_021211
Alternative sequence521Q → HPLPLCR in isoform 3 and isoform 4.
VSP_021212
Alternative sequence111 – 1188WYIFVFCS → C in isoform 3.
VSP_021213

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: B2ED164C9F379EDD

FASTA14015,503
        10         20         30         40         50         60 
MGRVSGLVPS RFLTLLAHLV VVITLFWSRD SNIQACLPLT FTPEEYDKQD IQLVAALSVT 

        70         80         90        100        110        120 
LGLFAVELAG FLSGVSMFNS TQSLISIGAH CSASVALSFF IFERWECTTY WYIFVFCSAL 

       130        140 
PAVTEMALFV TVFGLKKKPF 

« Hide

Isoform 2 [UniParc].

Checksum: FA733A83F522F896
Show »

FASTA16317,605
Isoform 3 [UniParc].

Checksum: C78CFAD7B8CBD8C7
Show »

FASTA13915,249
Isoform 4 [UniParc].

Checksum: A166E2EB1727C957
Show »

FASTA14616,192

References

[1]"A novel gene from human dendritic cells."
Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Dendritic cell.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Small intestine.
[4]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORMS 1 AND 3).
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_115730.2. NM_032354.3.
NP_898888.1. NM_183065.2.
UniGeneHs.513933.

3D structure databases

ProteinModelPortalQ6UX40.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124040. 1 interaction.
STRING9606.ENSP00000314116.

Polymorphism databases

DMDM74738174.

Proteomic databases

PaxDbQ6UX40.
PRIDEQ6UX40.

Protocols and materials databases

DNASU84314.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316425; ENSP00000314116; ENSG00000179029. [Q6UX40-4]
ENST00000437139; ENSP00000402732; ENSG00000179029. [Q6UX40-1]
ENST00000533070; ENSP00000436674; ENSG00000179029. [Q6UX40-3]
GeneID84314.
KEGGhsa:84314.
UCSCuc002gkg.4. human. [Q6UX40-1]
uc002gkh.4. human. [Q6UX40-4]
uc002gki.4. human. [Q6UX40-3]

Organism-specific databases

CTD84314.
GeneCardsGC17M008113.
HGNCHGNC:28128. TMEM107.
HPAHPA052555.
neXtProtNX_Q6UX40.
PharmGKBPA142670758.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44128.
HOGENOMHOG000261639.
HOVERGENHBG094051.
InParanoidQ6UX40.
OMAISIAAHC.
PhylomeDBQ6UX40.
TreeFamTF328441.

Gene expression databases

ArrayExpressQ6UX40.
BgeeQ6UX40.
CleanExHS_TMEM107.
GenevestigatorQ6UX40.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSTMEM107. human.
GenomeRNAi84314.
NextBio74018.
PROQ6UX40.

Entry information

Entry nameTM107_HUMAN
AccessionPrimary (citable) accession number: Q6UX40
Secondary accession number(s): A0PJV7 expand/collapse secondary AC list , Q6NSE3, Q6ZRX9, Q96T82
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM