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Q9NUM4

- T106B_HUMAN

UniProt

Q9NUM4 - T106B_HUMAN

Protein

Transmembrane protein 106B

Gene

TMEM106B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Functioni

    Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. dendrite morphogenesis Source: UniProtKB
    3. lysosome localization Source: UniProtKB
    4. transport Source: UniProtKB-KW

    Keywords - Biological processi

    Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 106B
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22407. TMEM106B.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. late endosome membrane Source: UniProtKB-SubCell
    4. lysosomal membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease.
    Note: The gene represented in this entry acts as a disease modifier. Risk alleles confer genetic susceptibility by increasing gene expression (PubMed:20154673, PubMed:21178100). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed:22895706). Thr-185 is a risk allele associated with lower GRN protein levels and early age at onset in GRN UP-FTD mutation carriers: it presents slower protein degradation that leads to higher steady-state TMEM106B levels, leading to alterations in the intracellular versus extracellular partitioning of GRN (PubMed:23742080).4 Publications
    Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) [MIM:105550]: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.3 Publications
    Note: The gene represented in this entry acts as a disease modifier.

    Keywords - Diseasei

    Amyotrophic lateral sclerosis, Neurodegeneration

    Organism-specific databases

    MIMi105550. phenotype.
    607485. phenotype.
    PharmGKBiPA142670756.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 274274Transmembrane protein 106BPRO_0000242650Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei33 – 331Phosphoserine2 Publications
    Glycosylationi145 – 1451N-linked (GlcNAc...)1 Publication
    Glycosylationi151 – 1511N-linked (GlcNAc...)1 Publication
    Glycosylationi164 – 1641N-linked (GlcNAc...)1 Publication
    Glycosylationi183 – 1831N-linked (GlcNAc...)3 Publications
    Glycosylationi256 – 2561N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NUM4.
    PaxDbiQ9NUM4.
    PeptideAtlasiQ9NUM4.
    PRIDEiQ9NUM4.

    PTM databases

    PhosphoSiteiQ9NUM4.

    Miscellaneous databases

    PMAP-CutDBQ9NUM4.

    Expressioni

    Tissue specificityi

    Expressed in frontal cortex.

    Gene expression databases

    ArrayExpressiQ9NUM4.
    BgeeiQ9NUM4.
    CleanExiHS_TMEM106B.
    GenevestigatoriQ9NUM4.

    Organism-specific databases

    HPAiHPA058342.

    Interactioni

    Subunit structurei

    Interacts with MAP6.1 Publication

    Protein-protein interaction databases

    BioGridi120093. 2 interactions.
    MINTiMINT-4658429.
    STRINGi9606.ENSP00000336673.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NUM4.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 9696CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini118 – 274157LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei97 – 11721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM106 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG44552.
    HOVERGENiHBG055025.
    InParanoidiQ9NUM4.
    OMAiHSNKEDG.
    OrthoDBiEOG7D85X7.
    PhylomeDBiQ9NUM4.
    TreeFamiTF328907.

    Family and domain databases

    InterProiIPR009790. DUF1356_TMEM106.
    [Graphical view]
    PfamiPF07092. DUF1356. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NUM4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGKSLSHLPL HSSKEDAYDG VTSENMRNGL VNSEVHNEDG RNGDVSQFPY    50
    VEFTGRDSVT CPTCQGTGRI PRGQENQLVA LIPYSDQRLR PRRTKLYVMA 100
    SVFVCLLLSG LAVFFLFPRS IDVKYIGVKS AYVSYDVQKR TIYLNITNTL 150
    NITNNNYYSV EVENITAQVQ FSKTVIGKAR LNNITIIGPL DMKQIDYTVP 200
    TVIAEEMSYM YDFCTLISIK VHNIVLMMQV TVTTTYFGHS EQISQERYQY 250
    VDCGRNTTYQ LGQSEYLNVL QPQQ 274
    Length:274
    Mass (Da):31,127
    Last modified:June 27, 2006 - v2
    Checksum:i906C923986DC04E6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti50 – 501Y → C in BAD96983. 1 PublicationCurated
    Sequence conflicti106 – 1061L → P in BAD96983. 1 PublicationCurated
    Sequence conflicti197 – 1971Y → N in BAD96983. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti185 – 1851T → S.2 Publications
    Corresponds to variant rs3173615 [ dbSNP | Ensembl ].
    VAR_026849

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK002135 mRNA. Translation: BAA92099.1.
    AK223263 mRNA. Translation: BAD96983.1.
    AC007321 Genomic DNA. Translation: AAQ96840.1.
    CH236948 Genomic DNA. Translation: EAL24296.1.
    CH471073 Genomic DNA. Translation: EAW93638.1.
    BC033901 mRNA. Translation: AAH33901.1.
    BC039741 mRNA. Translation: AAH39741.1.
    CCDSiCCDS5358.1.
    RefSeqiNP_001127704.1. NM_001134232.1.
    NP_060844.2. NM_018374.3.
    XP_005249846.1. XM_005249789.1.
    UniGeneiHs.396358.

    Genome annotation databases

    EnsembliENST00000396667; ENSP00000379901; ENSG00000106460.
    ENST00000396668; ENSP00000379902; ENSG00000106460.
    GeneIDi54664.
    KEGGihsa:54664.
    UCSCiuc003ssh.3. human.

    Polymorphism databases

    DMDMi109895058.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK002135 mRNA. Translation: BAA92099.1 .
    AK223263 mRNA. Translation: BAD96983.1 .
    AC007321 Genomic DNA. Translation: AAQ96840.1 .
    CH236948 Genomic DNA. Translation: EAL24296.1 .
    CH471073 Genomic DNA. Translation: EAW93638.1 .
    BC033901 mRNA. Translation: AAH33901.1 .
    BC039741 mRNA. Translation: AAH39741.1 .
    CCDSi CCDS5358.1.
    RefSeqi NP_001127704.1. NM_001134232.1.
    NP_060844.2. NM_018374.3.
    XP_005249846.1. XM_005249789.1.
    UniGenei Hs.396358.

    3D structure databases

    ProteinModelPortali Q9NUM4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120093. 2 interactions.
    MINTi MINT-4658429.
    STRINGi 9606.ENSP00000336673.

    PTM databases

    PhosphoSitei Q9NUM4.

    Polymorphism databases

    DMDMi 109895058.

    Proteomic databases

    MaxQBi Q9NUM4.
    PaxDbi Q9NUM4.
    PeptideAtlasi Q9NUM4.
    PRIDEi Q9NUM4.

    Protocols and materials databases

    DNASUi 54664.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000396667 ; ENSP00000379901 ; ENSG00000106460 .
    ENST00000396668 ; ENSP00000379902 ; ENSG00000106460 .
    GeneIDi 54664.
    KEGGi hsa:54664.
    UCSCi uc003ssh.3. human.

    Organism-specific databases

    CTDi 54664.
    GeneCardsi GC07P012217.
    HGNCi HGNC:22407. TMEM106B.
    HPAi HPA058342.
    MIMi 105550. phenotype.
    607485. phenotype.
    613413. gene.
    neXtProti NX_Q9NUM4.
    PharmGKBi PA142670756.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44552.
    HOVERGENi HBG055025.
    InParanoidi Q9NUM4.
    OMAi HSNKEDG.
    OrthoDBi EOG7D85X7.
    PhylomeDBi Q9NUM4.
    TreeFami TF328907.

    Miscellaneous databases

    GeneWikii TMEM106B.
    GenomeRNAii 54664.
    NextBioi 57212.
    PMAP-CutDB Q9NUM4.
    PROi Q9NUM4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NUM4.
    Bgeei Q9NUM4.
    CleanExi HS_TMEM106B.
    Genevestigatori Q9NUM4.

    Family and domain databases

    InterProi IPR009790. DUF1356_TMEM106.
    [Graphical view ]
    Pfami PF07092. DUF1356. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    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], VARIANT SER-185.
      Tissue: Placenta.
    2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Gastric mucosa.
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Brain and Skin.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-183.
      Tissue: Liver.
    9. "Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions."
      Van Deerlin V.M., Sleiman P.M., Martinez-Lage M., Chen-Plotkin A., Wang L.S., Graff-Radford N.R., Dickson D.W., Rademakers R., Boeve B.F., Grossman M., Arnold S.E., Mann D.M., Pickering-Brown S.M., Seelaar H., Heutink P., van Swieten J.C., Murrell J.R., Ghetti B.
      , Spina S., Grafman J., Hodges J., Spillantini M.G., Gilman S., Lieberman A.P., Kaye J.A., Woltjer R.L., Bigio E.H., Mesulam M., Al-Sarraj S., Troakes C., Rosenberg R.N., White C.L. III, Ferrer I., Llado A., Neumann M., Kretzschmar H.A., Hulette C.M., Welsh-Bohmer K.A., Miller B.L., Alzualde A., de Munain A.L., McKee A.C., Gearing M., Levey A.I., Lah J.J., Hardy J., Rohrer J.D., Lashley T., Mackenzie I.R., Feldman H.H., Hamilton R.L., Dekosky S.T., van der Zee J., Kumar-Singh S., Van Broeckhoven C., Mayeux R., Vonsattel J.P., Troncoso J.C., Kril J.J., Kwok J.B., Halliday G.M., Bird T.D., Ince P.G., Shaw P.J., Cairns N.J., Morris J.C., McLean C.A., DeCarli C., Ellis W.G., Freeman S.H., Frosch M.P., Growdon J.H., Perl D.P., Sano M., Bennett D.A., Schneider J.A., Beach T.G., Reiman E.M., Woodruff B.K., Cummings J., Vinters H.V., Miller C.A., Chui H.C., Alafuzoff I., Hartikainen P., Seilhean D., Galasko D., Masliah E., Cotman C.W., Tunon M.T., Martinez M.C., Munoz D.G., Carroll S.L., Marson D., Riederer P.F., Bogdanovic N., Schellenberg G.D., Hakonarson H., Trojanowski J.Q., Lee V.M.
      Nat. Genet. 42:234-239(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN UP-FTD.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: INVOLVEMENT IN UP-FTD.
    12. "Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration."
      Lang C.M., Fellerer K., Schwenk B.M., Kuhn P.H., Kremmer E., Edbauer D., Capell A., Haass C.
      J. Biol. Chem. 287:19355-19365(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION AT ASN-145; ASN-151; ASN-164; ASN-183 AND ASN-256.
    13. "TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways."
      Chen-Plotkin A.S., Unger T.L., Gallagher M.D., Bill E., Kwong L.K., Volpicelli-Daley L., Busch J.I., Akle S., Grossman M., Van Deerlin V., Trojanowski J.Q., Lee V.M.
      J. Neurosci. 32:11213-11227(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN UP-FTD.
    14. "The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function."
      Brady O.A., Zheng Y., Murphy K., Huang M., Hu F.
      Hum. Mol. Genet. 22:685-695(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    15. Cited for: INVOLVEMENT IN UP-FTD, VARIANT SER-185, SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-183.
    16. "TMEM106B: a strong FTLD disease modifier."
      Deming Y., Cruchaga C.
      Acta Neuropathol. 127:419-422(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FTDALS.
    17. "TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions."
      Gallagher M.D., Suh E., Grossman M., Elman L., McCluskey L., Van Swieten J.C., Al-Sarraj S., Neumann M., Gelpi E., Ghetti B., Rohrer J.D., Halliday G., Van Broeckhoven C., Seilhean D., Shaw P.J., Frosch M.P., Alafuzoff I., Antonell A.
      , Bogdanovic N., Brooks W., Cairns N.J., Cooper-Knock J., Cotman C., Cras P., Cruts M., De Deyn P.P., Decarli C., Dobson-Stone C., Engelborghs S., Fox N., Galasko D., Gearing M., Gijselinck I., Grafman J., Hartikainen P., Hatanpaa K.J., Highley J.R., Hodges J., Hulette C., Ince P.G., Jin L.W., Kirby J., Kofler J., Kril J., Kwok J.B., Levey A., Lieberman A., Llado A., Martin J.J., Masliah E., McDermott C.J., McKee A., McLean C., Mead S., Miller C.A., Miller J., Munoz D.G., Murrell J., Paulson H., Piguet O., Rossor M., Sanchez-Valle R., Sano M., Schneider J., Silbert L.C., Spina S., van der Zee J., Van Langenhove T., Warren J., Wharton S.B., White Iii C.L., Woltjer R.L., Trojanowski J.Q., Lee V.M., Van Deerlin V., Chen-Plotkin A.S.
      Acta Neuropathol. 127:407-418(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FTDALS.
    18. Cited for: INVOLVEMENT IN FTDALS.
    19. "The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes."
      Schwenk B.M., Lang C.M., Hogl S., Tahirovic S., Orozco D., Rentzsch K., Lichtenthaler S.F., Hoogenraad C.C., Capell A., Haass C., Edbauer D.
      EMBO J. 33:450-467(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MAP6.

    Entry informationi

    Entry nameiT106B_HUMAN
    AccessioniPrimary (citable) accession number: Q9NUM4
    Secondary accession number(s): A4D108, Q53FL9, Q8N4L0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 90 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 7
      Human chromosome 7: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3