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Protein

Osteopetrosis-associated transmembrane protein 1

Gene

Ostm1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for osteoclast and melanocyte maturation and function.2 Publications

GO - Biological processi

  • osteoclast differentiation Source: MGI
Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:2655574. Ostm1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini35 – 288254LumenalSequence analysisAdd
BLAST
Transmembranei289 – 30921HelicalSequence analysisAdd
BLAST
Topological domaini310 – 33829CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3434Sequence analysisAdd
BLAST
Chaini35 – 338304Osteopetrosis-associated transmembrane protein 1PRO_0000021964Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi97 – 971N-linked (GlcNAc...)Sequence analysis
Glycosylationi132 – 1321N-linked (GlcNAc...)Sequence analysis
Glycosylationi139 – 1391N-linked (GlcNAc...)Sequence analysis
Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence analysis
Glycosylationi188 – 1881N-linked (GlcNAc...)Sequence analysis
Glycosylationi198 – 1981N-linked (GlcNAc...)Sequence analysis
Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence analysis
Glycosylationi234 – 2341N-linked (GlcNAc...)Sequence analysis
Glycosylationi267 – 2671N-linked (GlcNAc...)Sequence analysis
Glycosylationi278 – 2781N-linked (GlcNAc...)Sequence analysis
Modified residuei326 – 3261PhosphoserineCombined sources
Modified residuei329 – 3291PhosphoserineCombined sources

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.
PhosphoSiteiQ8BGT0.

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

BgeeiQ8BGT0.
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. 1 interaction.
IntActiQ8BGT0. 4 interactions.
MINTiMINT-8188398.
STRINGi10090.ENSMUSP00000035516.

Structurei

3D structure databases

ProteinModelPortaliQ8BGT0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4617. Eukaryota.
ENOG4111X6Y. LUCA.
GeneTreeiENSGT00390000012341.
HOGENOMiHOG000067722.
HOVERGENiHBG053380.
InParanoidiQ8BGT0.
OMAiESGTHLC.
PhylomeDBiQ8BGT0.
TreeFamiTF323313.

Family and domain databases

InterProiIPR019172. Osteopetrosis-assoc_TM_1.
[Graphical view]
PfamiPF09777. OSTMP1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

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.

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. 1 interaction.
IntActiQ8BGT0. 4 interactions.
MINTiMINT-8188398.
STRINGi10090.ENSMUSP00000035516.

PTM databases

iPTMnetiQ8BGT0.
PhosphoSiteiQ8BGT0.

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.
OMAiESGTHLC.
PhylomeDBiQ8BGT0.
TreeFamiTF323313.

Enzyme and pathway databases

ReactomeiR-MMU-2672351. Stimuli-sensing channels.

Miscellaneous databases

PROiQ8BGT0.
SOURCEiSearch...

Gene expression databases

BgeeiQ8BGT0.
CleanExiMM_OSTM1.
ExpressionAtlasiQ8BGT0. baseline and differential.
GenevisibleiQ8BGT0. MM.

Family and domain databases

InterProiIPR019172. Osteopetrosis-assoc_TM_1.
[Graphical view]
PfamiPF09777. OSTMP1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human."
    Chalhoub N., Benachenhou N., Rajapurohitam V., Pata M., Ferron M., Frattini A., Villa A., Vacher J.
    Nat. Med. 9:399-406(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISEASE.
    Strain: C57BL/6J.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Lung and Pancreas.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: FVB/N.
    Tissue: Salivary gland.
  4. "ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function."
    Lange P.F., Wartosch L., Jentsch T.J., Fuhrmann J.C.
    Nature 440:220-223(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, GLYCOSYLATION, PROTEOLYTIC CLEAVAGE, SUBUNIT, INTERACTION WITH CLCN7, SUBCELLULAR LOCATION.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  6. "The phagosomal proteome in interferon-gamma-activated macrophages."
    Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
    Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-326 AND SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Brain, Brown adipose tissue, Heart, Kidney, Liver, Lung, Pancreas, Spleen and Testis.

Entry informationi

Entry nameiOSTM1_MOUSE
AccessioniPrimary (citable) accession number: Q8BGT0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: March 1, 2003
Last modified: July 6, 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

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

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.