UniProtKB - Q4V9L6 (TM119_HUMAN)
Protein
Transmembrane protein 119
Gene
TMEM119
Organism
Homo sapiens (Human)
Status
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
- biomineral tissue development Source: UniProtKB-KW
- endochondral ossification Source: ARUK-UCL
- negative regulation of bone resorption Source: ARUK-UCL
- negative regulation of myotube differentiation Source: ARUK-UCL
- osteoblast differentiation Source: Ensembl
- positive regulation of bone development Source: UniProtKB
- positive regulation of bone mineralization Source: UniProtKB
- positive regulation of gene expression Source: ARUK-UCL
- positive regulation of osteoblast differentiation Source: UniProtKB
- positive regulation of osteoblast proliferation Source: UniProtKB
- positive regulation of protein phosphorylation Source: ARUK-UCL
- spermatid differentiation Source: UniProtKB
- spermatogenesis Source: UniProtKB
Keywordsi
Biological process | Biomineralization, Differentiation, Osteogenesis, Spermatogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q4V9L6 |
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 119Alternative name(s): Osteoblast induction factor Short name: OBIF |
Gene namesi | Name:TMEM119 ORF Names:PSEC0199, UNQ731/PRO1415 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:27884, TMEM119 |
MIMi | 618989, gene |
neXtProti | NX_Q4V9L6 |
VEuPathDBi | HostDB:ENSG00000183160.8 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Plasma membrane
- Cell membrane 2 Publications; Single-pass type I membrane protein Sequence analysis
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 26 – 96 | ExtracellularSequence analysisAdd BLAST | 71 | |
Transmembranei | 97 – 117 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 118 – 283 | CytoplasmicSequence analysisAdd BLAST | 166 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 338773 |
OpenTargetsi | ENSG00000183160 |
PharmGKBi | PA143485640 |
Miscellaneous databases
Pharosi | Q4V9L6, Tbio |
Genetic variation databases
BioMutai | TMEM119 |
DMDMi | 74754588 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 25 | Sequence analysisAdd BLAST | 25 | |
ChainiPRO_0000251220 | 26 – 283 | Transmembrane protein 119Add BLAST | 258 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 41 | O-linked (GalNAc...) serineBy similarity | 1 | |
Modified residuei | 272 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q4V9L6 |
MassIVEi | Q4V9L6 |
MaxQBi | Q4V9L6 |
PaxDbi | Q4V9L6 |
PeptideAtlasi | Q4V9L6 |
PRIDEi | Q4V9L6 |
ProteomicsDBi | 62285 |
TopDownProteomicsi | Q4V9L6 |
PTM databases
GlyGeni | Q4V9L6, 1 site |
iPTMneti | Q4V9L6 |
PhosphoSitePlusi | Q4V9L6 |
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
Bgeei | ENSG00000183160, Expressed in stromal cell of endometrium and 191 other tissues |
ExpressionAtlasi | Q4V9L6, baseline and differential |
Genevisiblei | Q4V9L6, HS |
Organism-specific databases
HPAi | ENSG00000183160, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with SMAD1, SMAD5 and RUNX2.
By similarityProtein-protein interaction databases
BioGRIDi | 130795, 7 interactors |
IntActi | Q4V9L6, 1 interactor |
MINTi | Q4V9L6 |
STRINGi | 9606.ENSP00000376553 |
Miscellaneous databases
RNActi | Q4V9L6, protein |
Family & Domainsi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S283, Eukaryota |
GeneTreei | ENSGT00390000017134 |
HOGENOMi | CLU_086693_0_0_1 |
InParanoidi | Q4V9L6 |
OMAi | EEPCSGV |
OrthoDBi | 1284233at2759 |
PhylomeDBi | Q4V9L6 |
TreeFami | TF336958 |
Family and domain databases
InterProi | View protein in InterPro IPR031453, TMEM119 |
PANTHERi | PTHR28645, PTHR28645, 1 hit |
Pfami | View protein in Pfam PF15724, TMEM119, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q4V9L6-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VS22 | F8VS22_HUMAN | Transmembrane protein 119 | TMEM119 | 140 | Annotation score: | ||
F8W0W9 | F8W0W9_HUMAN | Transmembrane protein 119 | TMEM119 | 44 | Annotation score: | ||
F8VZL0 | F8VZL0_HUMAN | Transmembrane protein 119 | TMEM119 | 28 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 262 | E → G in BAC11656 (PubMed:16303743).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027663 | 72 | I → T2 PublicationsCorresponds to variant dbSNP:rs7975237Ensembl. | 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 |
CCDSi | CCDS9119.1 |
RefSeqi | NP_859075.2, NM_181724.2 XP_011536573.1, XM_011538271.2 |
Genome annotation databases
Ensembli | ENST00000392806; ENSP00000376553; ENSG00000183160 |
GeneIDi | 338773 |
KEGGi | hsa:338773 |
UCSCi | uc001tng.4, human |
Similar proteinsi
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 |
CCDSi | CCDS9119.1 |
RefSeqi | NP_859075.2, NM_181724.2 XP_011536573.1, XM_011538271.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 130795, 7 interactors |
IntActi | Q4V9L6, 1 interactor |
MINTi | Q4V9L6 |
STRINGi | 9606.ENSP00000376553 |
PTM databases
GlyGeni | Q4V9L6, 1 site |
iPTMneti | Q4V9L6 |
PhosphoSitePlusi | Q4V9L6 |
Genetic variation databases
BioMutai | TMEM119 |
DMDMi | 74754588 |
Proteomic databases
jPOSTi | Q4V9L6 |
MassIVEi | Q4V9L6 |
MaxQBi | Q4V9L6 |
PaxDbi | Q4V9L6 |
PeptideAtlasi | Q4V9L6 |
PRIDEi | Q4V9L6 |
ProteomicsDBi | 62285 |
TopDownProteomicsi | Q4V9L6 |
Protocols and materials databases
Antibodypediai | 55081, 22 antibodies |
Genome annotation databases
Ensembli | ENST00000392806; ENSP00000376553; ENSG00000183160 |
GeneIDi | 338773 |
KEGGi | hsa:338773 |
UCSCi | uc001tng.4, human |
Organism-specific databases
CTDi | 338773 |
DisGeNETi | 338773 |
GeneCardsi | TMEM119 |
HGNCi | HGNC:27884, TMEM119 |
HPAi | ENSG00000183160, Low tissue specificity |
MIMi | 618989, gene |
neXtProti | NX_Q4V9L6 |
OpenTargetsi | ENSG00000183160 |
PharmGKBi | PA143485640 |
VEuPathDBi | HostDB:ENSG00000183160.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S283, Eukaryota |
GeneTreei | ENSGT00390000017134 |
HOGENOMi | CLU_086693_0_0_1 |
InParanoidi | Q4V9L6 |
OMAi | EEPCSGV |
OrthoDBi | 1284233at2759 |
PhylomeDBi | Q4V9L6 |
TreeFami | TF336958 |
Enzyme and pathway databases
PathwayCommonsi | Q4V9L6 |
Miscellaneous databases
BioGRID-ORCSi | 338773, 13 hits in 981 CRISPR screens |
ChiTaRSi | TMEM119, human |
GenomeRNAii | 338773 |
Pharosi | Q4V9L6, Tbio |
PROi | PR:Q4V9L6 |
RNActi | Q4V9L6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183160, Expressed in stromal cell of endometrium and 191 other tissues |
ExpressionAtlasi | Q4V9L6, baseline and differential |
Genevisiblei | Q4V9L6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR031453, TMEM119 |
PANTHERi | PTHR28645, PTHR28645, 1 hit |
Pfami | View protein in Pfam PF15724, TMEM119, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TM119_HUMAN | |
Accessioni | Q4V9L6Primary (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: | April 7, 2021 | |
This is version 115 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot