Q9NUM4 (T106B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 106B

Gene names

Name:

TMEM106B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	274 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Late endosome membrane; Single-pass type II membrane protein. Lysosome membrane; Single-pass type II membrane protein Ref.11.
Tissue specificity	Expressed in frontal cortex.
Involvement in disease	TMEM106B genotype, when containing 3 particular single-nucleotide polymorphisms, is strongly correlated with frontotemporal lobar degeneration with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia and 20% of patients with this neurodegenerative disease have autosomal dominant GRN mutations. Expression of TMEM106B associated with these polymorphisms is increased in frontal cortex of patients with FTLD-TDP compared to unaffected controls. Thus, increased TMEM106B expression in the brain may be linked to mechanisms of disease in FTLD-TDP and risk alleles confer genetic susceptibility by increasing gene expression.
Sequence similarities	Belongs to the TMEM106 family.

Ontologies

Keywords
Cellular component	Endosome Lysosome Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW late endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 274	274	Transmembrane protein 106B		PRO_0000242650
Regions
	Topological domain	1 – 96	96	Cytoplasmic Potential
	Transmembrane	97 – 117	21	Helical; Potential
	Topological domain	118 – 274	157	Lumenal Potential
Amino acid modifications
	Modified residue	33	1	Phosphoserine Ref.7 Ref.10
	Glycosylation	145	1	N-linked (GlcNAc...) Ref.11
	Glycosylation	151	1	N-linked (GlcNAc...) Ref.11
	Glycosylation	164	1	N-linked (GlcNAc...) Ref.11
	Glycosylation	183	1	N-linked (GlcNAc...) Ref.8 Ref.11
	Glycosylation	256	1	N-linked (GlcNAc...) Ref.11
Natural variations
	Natural variant	185	1	T → S. Ref.1 Corresponds to variant rs3173615 [ dbSNP | Ensembl ].		VAR_026849
Experimental info
	Sequence conflict	50	1	Y → C in BAD96983. Ref.2
	Sequence conflict	106	1	L → P in BAD96983. Ref.2
	Sequence conflict	197	1	Y → N in BAD96983. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9NUM4 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: 906C923986DC04E6	FASTA	274	31,127
	10 20 30 40 50 60 MGKSLSHLPL HSSKEDAYDG VTSENMRNGL VNSEVHNEDG RNGDVSQFPY VEFTGRDSVT 70 80 90 100 110 120 CPTCQGTGRI PRGQENQLVA LIPYSDQRLR PRRTKLYVMA SVFVCLLLSG LAVFFLFPRS 130 140 150 160 170 180 IDVKYIGVKS AYVSYDVQKR TIYLNITNTL NITNNNYYSV EVENITAQVQ FSKTVIGKAR 190 200 210 220 230 240 LNNITIIGPL DMKQIDYTVP TVIAEEMSYM YDFCTLISIK VHNIVLMMQV TVTTTYFGHS 250 260 270 EQISQERYQY VDCGRNTTYQ LGQSEYLNVL QPQQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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 FTLD-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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00395903.
RefSeq	NP_001127704.1. NM_001134232.1. NP_060844.2. NM_018374.3.
UniGene	Hs.396358.
3D structure databases
ProteinModelPortal	Q9NUM4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000336673.
PTM databases
PhosphoSite	Q9NUM4.
Polymorphism databases
DMDM	109895058.
Proteomic databases
PaxDb	Q9NUM4.
PeptideAtlas	Q9NUM4.
PRIDE	Q9NUM4.
Protocols and materials databases
DNASU	54664.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000396667; ENSP00000379901; ENSG00000106460. ENST00000396668; ENSP00000379902; ENSG00000106460.
GeneID	54664.
KEGG	hsa:54664.
UCSC	uc003ssh.3. human.
Organism-specific databases
CTD	54664.
GeneCards	GC07P012217.
HGNC	HGNC:22407. TMEM106B.
MIM	613413. gene.
neXtProt	NX_Q9NUM4.
PharmGKB	PA142670756.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44552.
HOVERGEN	HBG055025.
InParanoid	Q9NUM4.
OMA	FDFCTLI.
OrthoDB	EOG4640D1.
Gene expression databases
ArrayExpress	Q9NUM4.
Bgee	Q9NUM4.
CleanEx	HS_TMEM106B.
Genevestigator	Q9NUM4.
GermOnline	ENSG00000106460. Homo sapiens.
Family and domain databases
InterPro	IPR009790. DUF1356_TMEM106. [Graphical view]
Pfam	PF07092. DUF1356. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54664.
NextBio	57212.
PMAP-CutDB	Q9NUM4.
SOURCE	Search...

Entry information

Entry name

T106B_HUMAN

Accession

Primary (citable) accession number: Q9NUM4
Secondary accession number(s): A4D108, Q53FL9, Q8N4L0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	April 3, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.