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Q6UX40

- TM107_HUMAN

UniProt

Q6UX40 - TM107_HUMAN

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Protein

Transmembrane protein 107

Gene

TMEM107

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript 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).By similarity

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. embryonic digit morphogenesis Source: Ensembl
  3. neural tube patterning Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 107
Gene namesi
Name:TMEM107
ORF Names:DC20, UNQ638/PRO1268
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:28128. TMEM107.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2721HelicalSequence AnalysisAdd
BLAST
Transmembranei53 – 7321HelicalSequence AnalysisAdd
BLAST
Transmembranei83 – 10321HelicalSequence AnalysisAdd
BLAST
Transmembranei113 – 13321HelicalSequence 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

PharmGKBiPA142670758.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 140140Transmembrane protein 107PRO_0000254541Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi79 – 791N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6UX40.
PRIDEiQ6UX40.

Expressioni

Gene expression databases

BgeeiQ6UX40.
CleanExiHS_TMEM107.
ExpressionAtlasiQ6UX40. baseline and differential.
GenevestigatoriQ6UX40.

Organism-specific databases

HPAiHPA052555.

Interactioni

Protein-protein interaction databases

BioGridi124040. 1 interaction.
STRINGi9606.ENSP00000314116.

Structurei

3D structure databases

ProteinModelPortaliQ6UX40.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG44128.
GeneTreeiENSGT00390000014827.
HOGENOMiHOG000261639.
HOVERGENiHBG094051.
InParanoidiQ6UX40.
OMAiCARAGIN.
PhylomeDBiQ6UX40.
TreeFamiTF328441.

Family and domain databases

InterProiIPR029248. TMEM107.
[Graphical view]
PfamiPF14995. TMEM107. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei30 – 301D → VRPTAALNPSPFPSLSGPSP TLPPPSVLPSWVFLFPAAPR PALQPAPFSLLSAGWWPRSL SPWASLQWSWPVSSQESPCS TAPRASSVSFLPAHLSHTTH FYQDSLQPPDTIVSAVANPS SSKIFNDVLNPAVY in isoform 2. 1 PublicationVSP_021210
Alternative sequencei31 – 140110Missing in isoform 2. 1 PublicationVSP_021211Add
BLAST
Alternative sequencei52 – 521Q → HPLPLCR in isoform 3 and isoform 4. 2 PublicationsVSP_021212
Alternative sequencei111 – 1188WYIFVFCS → C in isoform 3. 1 PublicationVSP_021213

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.4. human. [Q6UX40-1]
uc002gkh.4. human. [Q6UX40-4]
uc002gki.4. human. [Q6UX40-3]

Polymorphism databases

DMDMi74738174.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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 .
CCDSi CCDS11132.1. [Q6UX40-4 ]
CCDS45607.1. [Q6UX40-1 ]
RefSeqi NP_115730.2. NM_032354.3. [Q6UX40-4 ]
NP_898888.1. NM_183065.2. [Q6UX40-1 ]
UniGenei Hs.513933.

3D structure databases

ProteinModelPortali Q6UX40.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124040. 1 interaction.
STRINGi 9606.ENSP00000314116.

Polymorphism databases

DMDMi 74738174.

Proteomic databases

PaxDbi Q6UX40.
PRIDEi Q6UX40.

Protocols and materials databases

DNASUi 84314.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000316425 ; ENSP00000314116 ; ENSG00000179029 . [Q6UX40-4 ]
ENST00000437139 ; ENSP00000402732 ; ENSG00000179029 . [Q6UX40-1 ]
ENST00000533070 ; ENSP00000436674 ; ENSG00000179029 . [Q6UX40-3 ]
GeneIDi 84314.
KEGGi hsa:84314.
UCSCi uc002gkg.4. human. [Q6UX40-1 ]
uc002gkh.4. human. [Q6UX40-4 ]
uc002gki.4. human. [Q6UX40-3 ]

Organism-specific databases

CTDi 84314.
GeneCardsi GC17M008187.
HGNCi HGNC:28128. TMEM107.
HPAi HPA052555.
neXtProti NX_Q6UX40.
PharmGKBi PA142670758.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44128.
GeneTreei ENSGT00390000014827.
HOGENOMi HOG000261639.
HOVERGENi HBG094051.
InParanoidi Q6UX40.
OMAi CARAGIN.
PhylomeDBi Q6UX40.
TreeFami TF328441.

Miscellaneous databases

ChiTaRSi TMEM107. human.
GenomeRNAii 84314.
NextBioi 74018.
PROi Q6UX40.

Gene expression databases

Bgeei Q6UX40.
CleanExi HS_TMEM107.
ExpressionAtlasi Q6UX40. baseline and differential.
Genevestigatori Q6UX40.

Family and domain databases

InterProi IPR029248. TMEM107.
[Graphical view ]
Pfami PF14995. TMEM107. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. 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.
    , 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.
    , 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.

Entry informationi

Entry nameiTM107_HUMAN
AccessioniPrimary (citable) accession number: Q6UX40
Secondary accession number(s): A0PJV7
, Q6NSE3, Q6ZRX9, Q96T82
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 76 of the entry and version 1 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM

External Data

Dasty 3