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Protein

Transmembrane protein 116

Gene

TMEM116

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 116
Gene namesi
Name:TMEM116
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:25084. TMEM116.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei24 – 4421HelicalSequence analysisAdd
BLAST
Transmembranei88 – 10821HelicalSequence analysisAdd
BLAST
Transmembranei141 – 16121HelicalSequence analysisAdd
BLAST
Transmembranei173 – 19523HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485637.

Polymorphism and mutation databases

BioMutaiTMEM116.
DMDMi74730154.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 245245Transmembrane protein 116PRO_0000251195Add
BLAST

Proteomic databases

PaxDbiQ8NCL8.
PRIDEiQ8NCL8.

Expressioni

Gene expression databases

BgeeiQ8NCL8.
CleanExiHS_TMEM116.
ExpressionAtlasiQ8NCL8. baseline and differential.
GenevisibleiQ8NCL8. HS.

Organism-specific databases

HPAiHPA040720.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000447731.

Structurei

3D structure databases

ProteinModelPortaliQ8NCL8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IUMT. Eukaryota.
ENOG4111IGA. LUCA.
GeneTreeiENSGT00390000003209.
HOGENOMiHOG000150626.
HOVERGENiHBG070488.
InParanoidiQ8NCL8.
OMAiLGICWLI.
OrthoDBiEOG7NPFW5.
PhylomeDBiQ8NCL8.
TreeFamiTF330947.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCL8-1) [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
MKHTQSGQST SPLVIDYTCR VCQMAFVFSS LIPLLLMTPV FCLGNTSECF
60 70 80 90 100
QNFSQSHKCI LMHSPPSAMA ELPPSANTSV CSTLYFYGIA IFLGSFVLSL
110 120 130 140 150
LTIMVLLIRA QTLYKKFVKS TGFLGSEQWA VIHIVDQRVR FYPVAFFCCW
160 170 180 190 200
GPAVILMIIK LTKPQDTKLH MALYVLQALT ATSQGLLNCG VYGWTQHKFH
210 220 230 240
QLKQEARRDA DTQTPLLCSQ KRFYSRGLNS LESTLTFPAS TSTIF
Length:245
Mass (Da):27,464
Last modified:October 1, 2002 - v1
Checksum:i07D30AE24CDD0345
GO
Isoform 2 (identifier: Q8NCL8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MATLSVIGSS...IWYLYTELRM

Note: No experimental confirmation available.
Show »
Length:337
Mass (Da):37,996
Checksum:iEFC86490CA276644
GO
Isoform 3 (identifier: Q8NCL8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MKHTQSGQSTSPL → MATLSVIGSS...ICYNLQAVGQ

Note: No experimental confirmation available.
Show »
Length:302
Mass (Da):33,762
Checksum:i69CAF29793E01039
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171Y → F in AAH70135 (PubMed:15489334).Curated
Sequence conflicti170 – 1701H → R in AAH70135 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221C → G.
Corresponds to variant rs3752630 [ dbSNP | Ensembl ].
VAR_027659

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1313MKHTQ…STSPL → MATLSVIGSSSLIAYAVFHN IQKSPEIRPLFYLSFCDLLL GLCWLTETLLYGASVANKDI ICYNLQAVGQ in isoform 3. CuratedVSP_046987Add
BLAST
Alternative sequencei1 – 11M → MATLSVIGSSSLIAYAVFHN IQKSPEIRPLFYLSFCDLLL GLCWLTETLLYGASVANKDI ICYNLQAVGQIFYISSFLYT VNYIWYLYTELRM in isoform 2. CuratedVSP_046988

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074648 mRNA. Translation: BAC11112.1.
AC004024 Genomic DNA. No translation available.
AC073575 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97987.1.
CH471054 Genomic DNA. Translation: EAW97988.1.
BC022360 mRNA. Translation: AAH22360.2.
BC048796 mRNA. Translation: AAH48796.1.
BC070135 mRNA. Translation: AAH70135.1.
CCDSiCCDS55886.1. [Q8NCL8-3]
CCDS55887.1. [Q8NCL8-2]
CCDS9157.1. [Q8NCL8-1]
RefSeqiNP_001180382.1. NM_001193453.1. [Q8NCL8-3]
NP_001180460.1. NM_001193531.1. [Q8NCL8-2]
NP_001281243.1. NM_001294314.1. [Q8NCL8-1]
NP_612350.1. NM_138341.2. [Q8NCL8-1]
XP_011537248.1. XM_011538946.1. [Q8NCL8-2]
XP_011537249.1. XM_011538947.1. [Q8NCL8-3]
XP_011537251.1. XM_011538949.1. [Q8NCL8-2]
XP_011537259.1. XM_011538957.1. [Q8NCL8-1]
UniGeneiHs.506815.
Hs.735999.

Genome annotation databases

EnsembliENST00000355445; ENSP00000347620; ENSG00000198270. [Q8NCL8-3]
ENST00000550831; ENSP00000450377; ENSG00000198270. [Q8NCL8-1]
ENST00000552374; ENSP00000447731; ENSG00000198270. [Q8NCL8-2]
GeneIDi89894.
KEGGihsa:89894.
UCSCiuc001ttd.3. human. [Q8NCL8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074648 mRNA. Translation: BAC11112.1.
AC004024 Genomic DNA. No translation available.
AC073575 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97987.1.
CH471054 Genomic DNA. Translation: EAW97988.1.
BC022360 mRNA. Translation: AAH22360.2.
BC048796 mRNA. Translation: AAH48796.1.
BC070135 mRNA. Translation: AAH70135.1.
CCDSiCCDS55886.1. [Q8NCL8-3]
CCDS55887.1. [Q8NCL8-2]
CCDS9157.1. [Q8NCL8-1]
RefSeqiNP_001180382.1. NM_001193453.1. [Q8NCL8-3]
NP_001180460.1. NM_001193531.1. [Q8NCL8-2]
NP_001281243.1. NM_001294314.1. [Q8NCL8-1]
NP_612350.1. NM_138341.2. [Q8NCL8-1]
XP_011537248.1. XM_011538946.1. [Q8NCL8-2]
XP_011537249.1. XM_011538947.1. [Q8NCL8-3]
XP_011537251.1. XM_011538949.1. [Q8NCL8-2]
XP_011537259.1. XM_011538957.1. [Q8NCL8-1]
UniGeneiHs.506815.
Hs.735999.

3D structure databases

ProteinModelPortaliQ8NCL8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000447731.

Polymorphism and mutation databases

BioMutaiTMEM116.
DMDMi74730154.

Proteomic databases

PaxDbiQ8NCL8.
PRIDEiQ8NCL8.

Protocols and materials databases

DNASUi89894.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355445; ENSP00000347620; ENSG00000198270. [Q8NCL8-3]
ENST00000550831; ENSP00000450377; ENSG00000198270. [Q8NCL8-1]
ENST00000552374; ENSP00000447731; ENSG00000198270. [Q8NCL8-2]
GeneIDi89894.
KEGGihsa:89894.
UCSCiuc001ttd.3. human. [Q8NCL8-1]

Organism-specific databases

CTDi89894.
GeneCardsiTMEM116.
HGNCiHGNC:25084. TMEM116.
HPAiHPA040720.
neXtProtiNX_Q8NCL8.
PharmGKBiPA143485637.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUMT. Eukaryota.
ENOG4111IGA. LUCA.
GeneTreeiENSGT00390000003209.
HOGENOMiHOG000150626.
HOVERGENiHBG070488.
InParanoidiQ8NCL8.
OMAiLGICWLI.
OrthoDBiEOG7NPFW5.
PhylomeDBiQ8NCL8.
TreeFamiTF330947.

Miscellaneous databases

ChiTaRSiTMEM116. human.
GenomeRNAii89894.
NextBioi76425.
PROiQ8NCL8.

Gene expression databases

BgeeiQ8NCL8.
CleanExiHS_TMEM116.
ExpressionAtlasiQ8NCL8. baseline and differential.
GenevisibleiQ8NCL8. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

  1. "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 1).
    Tissue: Mammary gland.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 and Lung.

Entry informationi

Entry nameiTM116_HUMAN
AccessioniPrimary (citable) accession number: Q8NCL8
Secondary accession number(s): G3V1W7
, G5E985, Q6NSH5, Q8IZ66
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 1, 2002
Last modified: March 16, 2016
This is version 87 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 12
    Human chromosome 12: 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

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.