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Protein

Osteopetrosis-associated transmembrane protein 1

Gene

OSTM1

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

Functioni

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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

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

HGNCiHGNC:21652. OSTM1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini32 – 284LumenalSequence analysisAdd BLAST253
Transmembranei285 – 305HelicalSequence analysisAdd BLAST21
Topological domaini306 – 334CytoplasmicSequence analysisAdd BLAST29

GO - Cellular componenti

Complete GO annotation...

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...)Sequence analysis1
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Glycosylationi135N-linked (GlcNAc...)Sequence analysis1
Glycosylationi163N-linked (GlcNAc...)Sequence analysis1
Glycosylationi177N-linked (GlcNAc...)Sequence analysis1
Glycosylationi184N-linked (GlcNAc...)Sequence analysis1
Glycosylationi194N-linked (GlcNAc...)Sequence analysis1
Glycosylationi216N-linked (GlcNAc...)Sequence analysis1
Glycosylationi263N-linked (GlcNAc...)Sequence analysis1
Glycosylationi274N-linked (GlcNAc...)Sequence 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. 13 interactors.
IntActiQ86WC4. 2 interactors.
STRINGi9606.ENSP00000193322.

Structurei

3D structure databases

ProteinModelPortaliQ86WC4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4617. Eukaryota.
ENOG4111X6Y. LUCA.
GeneTreeiENSGT00390000012341.
HOVERGENiHBG053380.
InParanoidiQ86WC4.
OMAiESGTHLC.
OrthoDBiEOG091G0GDR.
PhylomeDBiQ86WC4.
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.

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 rs9480830dbSNPEnsembl.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. Translation: CAI19229.1.
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

Cross-referencesi

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. Translation: CAI19229.1.
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.

3D structure databases

ProteinModelPortaliQ86WC4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118788. 13 interactors.
IntActiQ86WC4. 2 interactors.
STRINGi9606.ENSP00000193322.

PTM databases

iPTMnetiQ86WC4.
PhosphoSitePlusiQ86WC4.

Polymorphism and mutation databases

BioMutaiOSTM1.
DMDMi51316434.

Proteomic databases

EPDiQ86WC4.
MaxQBiQ86WC4.
PaxDbiQ86WC4.
PeptideAtlasiQ86WC4.
PRIDEiQ86WC4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi28962.
DisGeNETi28962.
GeneCardsiOSTM1.
HGNCiHGNC:21652. OSTM1.
HPAiHPA010851.
MalaCardsiOSTM1.
MIMi259720. phenotype.
607649. gene.
neXtProtiNX_Q86WC4.
OpenTargetsiENSG00000081087.
Orphaneti85179. Infantile osteopetrosis with neuroaxonal dysplasia.
PharmGKBiPA134941162.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4617. Eukaryota.
ENOG4111X6Y. LUCA.
GeneTreeiENSGT00390000012341.
HOVERGENiHBG053380.
InParanoidiQ86WC4.
OMAiESGTHLC.
OrthoDBiEOG091G0GDR.
PhylomeDBiQ86WC4.
TreeFamiTF323313.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiOSTM1. human.
GeneWikiiOSTM1.
GenomeRNAii28962.
PROiQ86WC4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081087.
CleanExiHS_OSTM1.
ExpressionAtlasiQ86WC4. baseline and differential.
GenevisibleiQ86WC4. HS.

Family and domain databases

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

Entry informationi

Entry nameiOSTM1_HUMAN
AccessioniPrimary (citable) accession number: Q86WC4
Secondary accession number(s): E1P5E3
, Q5R391, Q6PCA7, Q7RTW6, Q8NC29, Q8TC82, Q9Y2S9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: June 1, 2003
Last modified: November 2, 2016
This is version 122 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 6
    Human chromosome 6: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) 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.