T106B_HUMAN » Transmembrane protein 106B

T106B_HUMAN » Transmembrane protein 106B
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Topology in Lysosomal membrane
Topologylysosome lumenal side
cytoplasmic side
T106B_HUMAN » Transmembrane protein 106B »
Hydrophobic Thickness 35.2 ± 2.0 Å
Tilt Angle 0 ± 5°
ΔGtransfer -49.2 kcal/mol
ΔGfold -16.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 95-117 (91-117)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 27-258, Protein of unknown function (DUF1356)

UniProt annotation for T106B_HUMAN » Transmembrane protein 106B
FUNCTION: 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.

SUBUNIT: Interacts with MAP6.

TISSUE SPECIFICITY: Expressed in frontal cortex.

DISEASE: Ubiquitin-positive frontotemporal dementia (UP-FTD) OMIM: 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, PubMed). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed). 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).

DISEASE: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) OMIM: 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. Note=The gene represented in this entry acts as a disease modifier.

UniProt features for T106B_HUMAN » Transmembrane protein 106B
CHAIN 1 274 Transmembrane protein 106B.
Amino Acid Sequence for T106B_HUMAN » Transmembrane protein 106B
MGKSLSHLPL HSSKEDAYDG VTSENMRNGL VNSEVHNEDG RNGDVSQFPY VEFTGRDSVT CPTCQGTGRI PRGQENQLVA LIPYSDQRLR PRRTKLYVMA SVFVCLLLSG LAVFFLFPRS IDVKYIGVKS AYVSYDVQKR TIYLNITNTL NITNNNYYSV EVENITAQVQ FSKTVIGKAR LNNITIIGPL DMKQIDYTVP TVIAEEMSYM YDFCTLISIK VHNIVLMMQV TVTTTYFGHS EQISQERYQY VDCGRNTTYQ LGQSEYLNVL QPQQ