HuLPr46532

Uniprot ID

T106B_HUMAN

Uniprot Acc

Q9NUM4;A4D108;Q53FL9;Q8N4L0;

Protein name

Transmembrane protein 106B

Comment

SUBCELLULAR LOCATION:Membrane; Single-pass membrane protein (Potential).||TISSUE SPECIFICITY:Expressed in frontal cortex.||DISEASE:Note=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.||SIMILARITY:Belongs to the TMEM106 family.

Subcellular localization

Membrane;Single-pass membrane protein(Potential).

Gene name

transmembrane protein 106B

Protein sequence

MGKSLSHLPLHSSKEDAYDGVTSENMRNGLVNSEVHNEDG RNGDVSQFPYVEFTGRDSVTCPTCQGTGRIPRGQENQLV ALIPYSDQRLRPRRTKLYVMASVFVCLLLSGLAVFFLFP RSIDVKYIGVKSAYVSYDVQKRTIYLNITNTLNITNNNY YSVEVENITAQVQFSKTVIGKARLNNITIIGPLDMKQID YTVPTVIAEEMSYMYDFCTLISIKVHNIVLMMQVTVTTT YFGHSEQISQERYQYVDCGRNTTYQLGQSEYLNVLQPQQ

Database cross reference

RefSeq Protein accession:NP_001127704
RefSeq Protein gi:197116389

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

GO:0016021;C:integral to membrane;IEA:UniProtKB-KW.

MOD type1

Position1

Residue1

Source name1

source ID1

Source method

HLPP validation1 (Yes/no)

Quality score

HuLPr46532

PHOSPHORYLATION

33

S

Phospho-ELM

12346

HTP

N

HuLPr46532

PHOSPHORYLATION

50

Y

Phospho-ELM

20379

HTP

N