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Protein

Transmembrane protein 119

Gene

TMEM119

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays an important role in bone formation and normal bone mineralization. Promotes the differentiation of myoblasts into osteoblasts (PubMed:20025746). May induce the commitment and differentiation of myoblasts into osteoblasts through an enhancement of BMP2 production and interaction with the BMP-RUNX2 pathway. Upregulates the expression of ATF4, a transcription factor which plays a central role in osteoblast differentiation. Essential for normal spermatogenesis and late testicular differentiation (By similarity).By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Biomineralization, Differentiation, Osteogenesis, Spermatogenesis

Enzyme and pathway databases

BioCyciZFISH:G66-31391-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 119
Alternative name(s):
Osteoblast induction factor
Short name:
OBIF
Gene namesi
Name:TMEM119
ORF Names:PSEC0199, UNQ731/PRO1415
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:27884. TMEM119.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 96ExtracellularSequence analysisAdd BLAST71
Transmembranei97 – 117HelicalSequence analysisAdd BLAST21
Topological domaini118 – 283CytoplasmicSequence analysisAdd BLAST166

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000183160.
PharmGKBiPA143485640.

Polymorphism and mutation databases

BioMutaiTMEM119.
DMDMi74754588.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000025122026 – 283Transmembrane protein 119Add BLAST258

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi41O-linked (GalNAc...)By similarity1
Modified residuei272PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ4V9L6.
MaxQBiQ4V9L6.
PaxDbiQ4V9L6.
PeptideAtlasiQ4V9L6.
PRIDEiQ4V9L6.
TopDownProteomicsiQ4V9L6.

PTM databases

iPTMnetiQ4V9L6.
PhosphoSitePlusiQ4V9L6.

Expressioni

Tissue specificityi

Expressed in brain microglia (at protein level). Elevated expression levels seen in the brain of patients with Alzheimer disease. Expressed by osteoblast-like cells in bone tissues and follicular dendritic cells in lymphoid tissues.1 Publication

Gene expression databases

BgeeiENSG00000183160.
CleanExiHS_TMEM119.
ExpressionAtlasiQ4V9L6. baseline and differential.
GenevisibleiQ4V9L6. HS.

Organism-specific databases

HPAiHPA051870.
HPA052650.

Interactioni

Subunit structurei

Interacts with SMAD1, SMAD5 and RUNX2.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000376553.

Structurei

3D structure databases

ProteinModelPortaliQ4V9L6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IVJ5. Eukaryota.
ENOG410YT3F. LUCA.
GeneTreeiENSGT00390000017134.
HOGENOMiHOG000060327.
HOVERGENiHBG080787.
InParanoidiQ4V9L6.
OMAiQYVMLIA.
OrthoDBiEOG091G0JGF.
PhylomeDBiQ4V9L6.
TreeFamiTF336958.

Family and domain databases

InterProiIPR031453. TMEM119.
[Graphical view]
PfamiPF15724. TMEM119. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q4V9L6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVSAAAPSLL ILLLLLLGSV PATDARSVPL KATFLEDVAG SGEAEGSSAS
60 70 80 90 100
SPSLPPPWTP ALSPTSMGPQ PITLGGPSPP TNFLDGIVDF FRQYVMLIAV
110 120 130 140 150
VGSLAFLLMF IVCAAVITRQ KQKASAYYPS SFPKKKYVDQ SDRAGGPRAF
160 170 180 190 200
SEVPDRAPDS RPEEALDSSR QLQADILAAT QNLKSPTRAA LGGGDGARMV
210 220 230 240 250
EGRGAEEEEK GSQEGDQEVQ GHGVPVETPE AQEEPCSGVL EGAVVAGEGQ
260 270 280
GELEGSLLLA QEAQGPVGPP ESPCACSSVH PSV
Length:283
Mass (Da):29,203
Last modified:July 5, 2005 - v1
Checksum:i8676B7A11C06B569
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti262E → G in BAC11656 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02766372I → T.2 PublicationsCorresponds to variant rs7975237dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358389 mRNA. Translation: AAQ88755.1.
AK075501 mRNA. Translation: BAC11656.1.
BC096825 mRNA. Translation: AAH96825.1.
CCDSiCCDS9119.1.
RefSeqiNP_859075.2. NM_181724.2.
XP_011536573.1. XM_011538271.2.
UniGeneiHs.449718.

Genome annotation databases

EnsembliENST00000392806; ENSP00000376553; ENSG00000183160.
GeneIDi338773.
KEGGihsa:338773.
UCSCiuc001tng.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358389 mRNA. Translation: AAQ88755.1.
AK075501 mRNA. Translation: BAC11656.1.
BC096825 mRNA. Translation: AAH96825.1.
CCDSiCCDS9119.1.
RefSeqiNP_859075.2. NM_181724.2.
XP_011536573.1. XM_011538271.2.
UniGeneiHs.449718.

3D structure databases

ProteinModelPortaliQ4V9L6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000376553.

PTM databases

iPTMnetiQ4V9L6.
PhosphoSitePlusiQ4V9L6.

Polymorphism and mutation databases

BioMutaiTMEM119.
DMDMi74754588.

Proteomic databases

EPDiQ4V9L6.
MaxQBiQ4V9L6.
PaxDbiQ4V9L6.
PeptideAtlasiQ4V9L6.
PRIDEiQ4V9L6.
TopDownProteomicsiQ4V9L6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392806; ENSP00000376553; ENSG00000183160.
GeneIDi338773.
KEGGihsa:338773.
UCSCiuc001tng.4. human.

Organism-specific databases

CTDi338773.
GeneCardsiTMEM119.
HGNCiHGNC:27884. TMEM119.
HPAiHPA051870.
HPA052650.
neXtProtiNX_Q4V9L6.
OpenTargetsiENSG00000183160.
PharmGKBiPA143485640.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVJ5. Eukaryota.
ENOG410YT3F. LUCA.
GeneTreeiENSGT00390000017134.
HOGENOMiHOG000060327.
HOVERGENiHBG080787.
InParanoidiQ4V9L6.
OMAiQYVMLIA.
OrthoDBiEOG091G0JGF.
PhylomeDBiQ4V9L6.
TreeFamiTF336958.

Enzyme and pathway databases

BioCyciZFISH:G66-31391-MONOMER.

Miscellaneous databases

ChiTaRSiTMEM119. human.
GenomeRNAii338773.
PROiQ4V9L6.

Gene expression databases

BgeeiENSG00000183160.
CleanExiHS_TMEM119.
ExpressionAtlasiQ4V9L6. baseline and differential.
GenevisibleiQ4V9L6. HS.

Family and domain databases

InterProiIPR031453. TMEM119.
[Graphical view]
PfamiPF15724. TMEM119. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTM119_HUMAN
AccessioniPrimary (citable) accession number: Q4V9L6
Secondary accession number(s): Q6UXE5, Q8N2F5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2005
Last modified: November 2, 2016
This is version 91 of the entry and version 1 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 12
    Human chromosome 12: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.