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Protein

Transmembrane protein 106B

Gene

TMEM106B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 - Biological processi

  • dendrite morphogenesis Source: UniProtKB
  • lysosomal transport Source: GO_Central
  • lysosome localization Source: UniProtKB
  • lysosome organization Source: GO_Central
  • positive regulation of dendrite development Source: Ensembl

Keywordsi

Biological processTransport

Protein family/group databases

TCDBi9.B.23.1.1 the tmem106b (tmem106b) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 106B
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106460.18
HGNCiHGNC:22407 TMEM106B
MIMi613413 gene
neXtProtiNX_Q9NUM4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 96CytoplasmicSequence analysisAdd BLAST95
Transmembranei97 – 117HelicalSequence analysisAdd BLAST21
Topological domaini118 – 274LumenalSequence analysisAdd BLAST157

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Ubiquitin-positive frontotemporal dementia (UP-FTD)4 Publications
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
Disease descriptionFrontotemporal 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.
See also OMIM:607485
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1)1 Publication2 Publications
The gene represented in this entry acts as a disease modifier.
Disease descriptionAn 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.
See also OMIM:105550

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration

Organism-specific databases

DisGeNETi54664
MalaCardsiTMEM106B
MIMi105550 phenotype
607485 phenotype
OpenTargetsiENSG00000106460
Orphaneti275864 Behavioral variant of frontotemporal dementia
100070 Progressive non-fluent aphasia
100069 Semantic dementia
PharmGKBiPA142670756

Polymorphism and mutation databases

BioMutaiTMEM106B
DMDMi109895058

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002426502 – 274Transmembrane protein 106BAdd BLAST273

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei33PhosphoserineCombined sources1
Glycosylationi145N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi151N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi164N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi183N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi256N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein, Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ9NUM4
MaxQBiQ9NUM4
PaxDbiQ9NUM4
PeptideAtlasiQ9NUM4
PRIDEiQ9NUM4
ProteomicsDBi82695

PTM databases

GlyConnecti1849
iPTMnetiQ9NUM4
PhosphoSitePlusiQ9NUM4
SwissPalmiQ9NUM4

Miscellaneous databases

PMAP-CutDBiQ9NUM4

Expressioni

Tissue specificityi

Expressed in frontal cortex.

Gene expression databases

BgeeiENSG00000106460 Expressed in 233 organ(s), highest expression level in metanephros
CleanExiHS_TMEM106B
ExpressionAtlasiQ9NUM4 baseline and differential
GenevisibleiQ9NUM4 HS

Organism-specific databases

HPAiHPA058342

Interactioni

Subunit structurei

Interacts with MAP6.1 Publication

Protein-protein interaction databases

BioGridi120093, 4 interactors
IntActiQ9NUM4, 6 interactors
MINTiQ9NUM4
STRINGi9606.ENSP00000379901

Structurei

3D structure databases

ProteinModelPortaliQ9NUM4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM106 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEC7 Eukaryota
ENOG410ZX7B LUCA
GeneTreeiENSGT00390000013076
HOVERGENiHBG055025
InParanoidiQ9NUM4
OMAiMKQIDYM
OrthoDBiEOG091G0KDT
PhylomeDBiQ9NUM4
TreeFamiTF328907

Family and domain databases

InterProiView protein in InterPro
IPR009790 DUF1356_TMEM106
PANTHERiPTHR28556 PTHR28556, 1 hit
PfamiView protein in Pfam
PF07092 DUF1356, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9NUM4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGKSLSHLPL HSSKEDAYDG VTSENMRNGL VNSEVHNEDG RNGDVSQFPY
60 70 80 90 100
VEFTGRDSVT CPTCQGTGRI PRGQENQLVA LIPYSDQRLR PRRTKLYVMA
110 120 130 140 150
SVFVCLLLSG LAVFFLFPRS IDVKYIGVKS AYVSYDVQKR TIYLNITNTL
160 170 180 190 200
NITNNNYYSV EVENITAQVQ FSKTVIGKAR LNNITIIGPL DMKQIDYTVP
210 220 230 240 250
TVIAEEMSYM YDFCTLISIK VHNIVLMMQV TVTTTYFGHS EQISQERYQY
260 270
VDCGRNTTYQ LGQSEYLNVL QPQQ
Length:274
Mass (Da):31,127
Last modified:June 27, 2006 - v2
Checksum:i906C923986DC04E6
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JZ87C9JZ87_HUMAN
Transmembrane protein 106B
TMEM106B
110Annotation score:
F2Z3N7F2Z3N7_HUMAN
Transmembrane protein 106B
TMEM106B
104Annotation score:
C9J998C9J998_HUMAN
Transmembrane protein 106B
TMEM106B
25Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti50Y → C in BAD96983 (Ref. 2) Curated1
Sequence conflicti106L → P in BAD96983 (Ref. 2) Curated1
Sequence conflicti197Y → N in BAD96983 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026849185T → S2 PublicationsCorresponds to variant dbSNP:rs3173615Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ9NUM4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120093, 4 interactors
IntActiQ9NUM4, 6 interactors
MINTiQ9NUM4
STRINGi9606.ENSP00000379901

Protein family/group databases

TCDBi9.B.23.1.1 the tmem106b (tmem106b) family

PTM databases

GlyConnecti1849
iPTMnetiQ9NUM4
PhosphoSitePlusiQ9NUM4
SwissPalmiQ9NUM4

Polymorphism and mutation databases

BioMutaiTMEM106B
DMDMi109895058

Proteomic databases

EPDiQ9NUM4
MaxQBiQ9NUM4
PaxDbiQ9NUM4
PeptideAtlasiQ9NUM4
PRIDEiQ9NUM4
ProteomicsDBi82695

Protocols and materials databases

DNASUi54664
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396667; ENSP00000379901; ENSG00000106460
ENST00000396668; ENSP00000379902; ENSG00000106460
GeneIDi54664
KEGGihsa:54664
UCSCiuc003ssh.4 human

Organism-specific databases

CTDi54664
DisGeNETi54664
EuPathDBiHostDB:ENSG00000106460.18
GeneCardsiTMEM106B
HGNCiHGNC:22407 TMEM106B
HPAiHPA058342
MalaCardsiTMEM106B
MIMi105550 phenotype
607485 phenotype
613413 gene
neXtProtiNX_Q9NUM4
OpenTargetsiENSG00000106460
Orphaneti275864 Behavioral variant of frontotemporal dementia
100070 Progressive non-fluent aphasia
100069 Semantic dementia
PharmGKBiPA142670756
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEC7 Eukaryota
ENOG410ZX7B LUCA
GeneTreeiENSGT00390000013076
HOVERGENiHBG055025
InParanoidiQ9NUM4
OMAiMKQIDYM
OrthoDBiEOG091G0KDT
PhylomeDBiQ9NUM4
TreeFamiTF328907

Miscellaneous databases

ChiTaRSiTMEM106B human
GeneWikiiTMEM106B
GenomeRNAii54664
PMAP-CutDBiQ9NUM4
PROiPR:Q9NUM4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106460 Expressed in 233 organ(s), highest expression level in metanephros
CleanExiHS_TMEM106B
ExpressionAtlasiQ9NUM4 baseline and differential
GenevisibleiQ9NUM4 HS

Family and domain databases

InterProiView protein in InterPro
IPR009790 DUF1356_TMEM106
PANTHERiPTHR28556 PTHR28556, 1 hit
PfamiView protein in Pfam
PF07092 DUF1356, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiT106B_HUMAN
AccessioniPrimary (citable) accession number: Q9NUM4
Secondary accession number(s): A4D108, Q53FL9, Q8N4L0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: November 7, 2018
This is version 124 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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