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Protein

Osteopetrosis-associated transmembrane protein 1

Gene

OSTM1

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

Functioni

Required for osteoclast and melanocyte maturation and function.By similarity1 Publication

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

TCDBi2.A.49.3.3 the chloride carrier/channel (clc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Osteopetrosis-associated transmembrane protein 1
Alternative name(s):
Chloride channel 7 beta subunit
Gene namesi
Name:OSTM1
Synonyms:GL
ORF Names:HSPC019, UNQ6098/PRO21201
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000081087.14
HGNCiHGNC:21652 OSTM1
MIMi607649 gene
neXtProtiNX_Q86WC4

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 domaini32 – 284LumenalSequence analysisAdd BLAST253
Transmembranei285 – 305HelicalSequence analysisAdd BLAST21
Topological domaini306 – 334CytoplasmicSequence analysisAdd BLAST29

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteopetrosis, autosomal recessive 5 (OPTB5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy.
See also OMIM:259720

Keywords - Diseasei

Osteopetrosis

Organism-specific databases

DisGeNETi28962
MalaCardsiOSTM1
MIMi259720 phenotype
OpenTargetsiENSG00000081087
Orphaneti85179 Infantile osteopetrosis with neuroaxonal dysplasia
PharmGKBiPA134941162

Polymorphism and mutation databases

BioMutaiOSTM1
DMDMi51316434

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000002196332 – 334Osteopetrosis-associated transmembrane protein 1Add BLAST303

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi93N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi128N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi177N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi194N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi216N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi263N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi274N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei322PhosphoserineCombined sources1
Modified residuei325PhosphoserineCombined sources1
Modified residuei333PhosphoserineCombined 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.By similarity
Highly N-glycosylated.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ86WC4
MaxQBiQ86WC4
PaxDbiQ86WC4
PeptideAtlasiQ86WC4
PRIDEiQ86WC4

PTM databases

iPTMnetiQ86WC4
PhosphoSitePlusiQ86WC4

Expressioni

Gene expression databases

BgeeiENSG00000081087
CleanExiHS_OSTM1
ExpressionAtlasiQ86WC4 baseline and differential
GenevisibleiQ86WC4 HS

Organism-specific databases

HPAiHPA010851

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi118788, 74 interactors
IntActiQ86WC4, 2 interactors
MINTiQ86WC4
STRINGi9606.ENSP00000193322

Structurei

3D structure databases

ProteinModelPortaliQ86WC4
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
HOVERGENiHBG053380
InParanoidiQ86WC4
OMAiDNMNRTR
OrthoDBiEOG091G0GDR
PhylomeDBiQ86WC4
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

Sequencei

Sequence statusi: Complete.

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

Q86WC4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEPGPTAAQR RCSLPPWLPL GLLLWSGLAL GALPFGSSPH RVFHDLLSEQ
60 70 80 90 100
QLLEVEDLSL SLLQGGGLGP LSLPPDLPDL DPECRELLLD FANSSAELTG
110 120 130 140 150
CLVRSARPVR LCQTCYPLFQ QVVSKMDNIS RAAGNTSESQ SCARSLLMAD
160 170 180 190 200
RMQIVVILSE FFNTTWQEAN CANCLTNNSE ELSNSTVYFL NLFNHTLTCF
210 220 230 240 250
EHNLQGNAHS LLQTKNYSEV CKNCREAYKT LSSLYSEMQK MNELENKAEP
260 270 280 290 300
GTHLCIDVED AMNITRKLWS RTFNCSVPCS DTVPVIAVSV FILFLPVVFY
310 320 330
LSSFLHSEQK KRKLILPKRL KSSTSFANIQ ENSN
Length:334
Mass (Da):37,257
Last modified:June 1, 2003 - v1
Checksum:i108719C2FDC5853D
GO

Sequence cautioni

The sequence AAD27000 differs from that shown. Reason: Frameshift at position 221.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti87L → P in BAC11351 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05125752L → F. Corresponds to variant dbSNP:rs9480830EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF533891 mRNA Translation: AAO72749.1
AY358795 mRNA Translation: AAQ89155.1
AK075012 mRNA Translation: BAC11351.1
Z98200 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48389.1
CH471051 Genomic DNA Translation: EAW48390.1
BC068581 mRNA Translation: AAH68581.1
BK000461 mRNA Translation: DAA00039.1
AF077205 mRNA Translation: AAD27000.1 Frameshift.
CCDSiCCDS5062.1
RefSeqiNP_054747.2, NM_014028.3
UniGeneiHs.226780
Hs.706947
Hs.745455

Genome annotation databases

EnsembliENST00000193322; ENSP00000193322; ENSG00000081087
GeneIDi28962
KEGGihsa:28962
UCSCiuc003psd.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiOSTM1_HUMAN
AccessioniPrimary (citable) accession number: Q86WC4
Secondary accession number(s): E1P5E3
, Q5R391, Q6PCA7, Q7RTW6, Q8NC29, Q8TC82, Q9Y2S9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: June 1, 2003
Last modified: May 23, 2018
This is version 134 of the entry and version 1 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

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