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Protein

Osteopetrosis-associated transmembrane protein 1

Gene

Ostm1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for osteoclast and melanocyte maturation and function.2 Publications

GO - Biological processi

  • osteoclast differentiation Source: MGI

Enzyme and pathway databases

ReactomeiR-MMU-2672351 Stimuli-sensing channels

Names & Taxonomyi

Protein namesi
Recommended name:
Osteopetrosis-associated transmembrane protein 1
Alternative name(s):
Chloride channel 7 beta subunit
Grey-lethal protein
Gene namesi
Name:Ostm1
Synonyms:Gl
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:2655574 Ostm1

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 domaini35 – 288LumenalSequence analysisAdd BLAST254
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Topological domaini310 – 338CytoplasmicSequence analysisAdd BLAST29

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Ostm1 are the cause of the spontaneous gray-lethal (gl) mutant, which is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 34Sequence analysisAdd BLAST34
ChainiPRO_000002196435 – 338Osteopetrosis-associated transmembrane protein 1Add BLAST304

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi139N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi188N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi234N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi267N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi278N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei326PhosphoserineCombined sources1
Modified residuei329PhosphoserineCombined sources1

Post-translational modificationi

Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.1 Publication
Highly N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ8BGT0
PaxDbiQ8BGT0
PeptideAtlasiQ8BGT0
PRIDEiQ8BGT0

PTM databases

iPTMnetiQ8BGT0
PhosphoSitePlusiQ8BGT0

Expressioni

Tissue specificityi

Expressed primarily in osteoclasts and melanocytes as well as brain, kidney and spleen. Found at lower levels in the thymus, testis, heart and liver.1 Publication

Developmental stagei

Expression was detected in fetal liver neuronal and bone tissues (E12.5 and E15.5). High expression was detected in thymus and gut at E18.5 and continued postnatally. Expression in bone (mandible and vertebrae) and brain tissues (cerebellum, hippocampus and cortex) remained high after birth. In addition high expression was detected in kidney, spleen and skin at P5 and P10.1 Publication

Gene expression databases

BgeeiENSMUSG00000038280 Expressed in 237 organ(s), highest expression level in blastocyst
CleanExiMM_OSTM1
ExpressionAtlasiQ8BGT0 baseline and differential
GenevisibleiQ8BGT0 MM

Interactioni

Subunit structurei

Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Clcn7O704967EBI-987431,EBI-987482

Protein-protein interaction databases

BioGridi199939, 17 interactors
IntActiQ8BGT0, 4 interactors
MINTiQ8BGT0
STRINGi10090.ENSMUSP00000035516

Structurei

3D structure databases

ProteinModelPortaliQ8BGT0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the OSTM1 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4617 Eukaryota
ENOG4111X6Y LUCA
GeneTreeiENSGT00390000012341
HOGENOMiHOG000067722
HOVERGENiHBG053380
InParanoidiQ8BGT0
OMAiDNMNRTR
OrthoDBiEOG091G0GDR
PhylomeDBiQ8BGT0
TreeFamiTF323313

Family and domain databases

InterProiView protein in InterPro
IPR019172 Osteopetrosis-assoc_TM_1
PANTHERiPTHR15644 PTHR15644, 1 hit
PfamiView protein in Pfam
PF09777 OSTMP1, 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 2 potential isoforms that are computationally mapped.Show allAlign All

Q8BGT0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARDAELARS SGWPWRWLPA LLLLQLLRWR CALCALPFTS SRHPGFADLL
60 70 80 90 100
SEQQLLEVQD LTLSLLQGGG LGPLSLLPPD LPDLEPECRE LLMDFANSSA
110 120 130 140 150
ELTACMVRSA RPVRLCQTCY PLFQQVAIKM DNISRNIGNT SEGPRCGGSL
160 170 180 190 200
LTADRMQIVL MVSEFFNSTW QEANCANCLT NNGEDLSNNT EDFLSLFNKT
210 220 230 240 250
LACFEHNLQG HTYSLLPPKN YSEVCRNCKE AYKNLSLLYS QMQKLNGLEN
260 270 280 290 300
KAEPETHLCI DVEDAMNITR KLWSRTFNCS VTCSDTVSVV AVSVFILFLP
310 320 330
VVFYLSSFLH SEQKKRKLIL PKRLKSSTSF ANIQENAT
Length:338
Mass (Da):38,000
Last modified:March 1, 2003 - v1
Checksum:i73EF8EE9ED760C08
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D3Z790D3Z790_MOUSE
Osteopetrosis-associated transmembr...
Ostm1
181Annotation score:
D3Z4W7D3Z4W7_MOUSE
Osteopetrosis-associated transmembr...
Ostm1
168Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF533890 mRNA Translation: AAO72748.1
AK004546 mRNA Translation: BAC25087.1
AK050513 mRNA Translation: BAC34300.1
BC057635 mRNA Translation: AAH57635.1
CCDSiCCDS23814.1
RefSeqiNP_766004.1, NM_172416.3
UniGeneiMm.46636

Genome annotation databases

EnsembliENSMUST00000040718; ENSMUSP00000035516; ENSMUSG00000038280
GeneIDi14628
KEGGimmu:14628
UCSCiuc007eyu.2 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF533890 mRNA Translation: AAO72748.1
AK004546 mRNA Translation: BAC25087.1
AK050513 mRNA Translation: BAC34300.1
BC057635 mRNA Translation: AAH57635.1
CCDSiCCDS23814.1
RefSeqiNP_766004.1, NM_172416.3
UniGeneiMm.46636

3D structure databases

ProteinModelPortaliQ8BGT0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi199939, 17 interactors
IntActiQ8BGT0, 4 interactors
MINTiQ8BGT0
STRINGi10090.ENSMUSP00000035516

PTM databases

iPTMnetiQ8BGT0
PhosphoSitePlusiQ8BGT0

Proteomic databases

MaxQBiQ8BGT0
PaxDbiQ8BGT0
PeptideAtlasiQ8BGT0
PRIDEiQ8BGT0

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000040718; ENSMUSP00000035516; ENSMUSG00000038280
GeneIDi14628
KEGGimmu:14628
UCSCiuc007eyu.2 mouse

Organism-specific databases

CTDi28962
MGIiMGI:2655574 Ostm1

Phylogenomic databases

eggNOGiKOG4617 Eukaryota
ENOG4111X6Y LUCA
GeneTreeiENSGT00390000012341
HOGENOMiHOG000067722
HOVERGENiHBG053380
InParanoidiQ8BGT0
OMAiDNMNRTR
OrthoDBiEOG091G0GDR
PhylomeDBiQ8BGT0
TreeFamiTF323313

Enzyme and pathway databases

ReactomeiR-MMU-2672351 Stimuli-sensing channels

Miscellaneous databases

PROiPR:Q8BGT0
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000038280 Expressed in 237 organ(s), highest expression level in blastocyst
CleanExiMM_OSTM1
ExpressionAtlasiQ8BGT0 baseline and differential
GenevisibleiQ8BGT0 MM

Family and domain databases

InterProiView protein in InterPro
IPR019172 Osteopetrosis-assoc_TM_1
PANTHERiPTHR15644 PTHR15644, 1 hit
PfamiView protein in Pfam
PF09777 OSTMP1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiOSTM1_MOUSE
AccessioniPrimary (citable) accession number: Q8BGT0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: March 1, 2003
Last modified: September 12, 2018
This is version 104 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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