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OSTM1 - osteoclastogenesis associated transmembrane protein 1 Gene

Also Known as GL; GIPN; OPTB5; HSPC019

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 28962

About OSTM1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:108,041,409-108,074,741 (from NCBI)

This gene has 22 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 17.8), adrenal (RPKM 13.8) and 24 other tissues.

Summary

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent Proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin Ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

OSTM1 Products (1)

mRNA	Protein	Name
NM_014028.4	NP_054747.2	osteopetrosis-associated transmembrane protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32851177	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in transepithelial chloride transport	IDA IDA: Inferred from direct assay	32851177	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of chloride channel complex	IPI IPI: Inferred from physical interaction	32851177	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	21527911	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OSTM1 Protein Structure

OSTMP1

0
100
200
300
334 a.a.

Protein Preferred Names	Protein Names
osteopetrosis-associated transmembrane protein 1	CLCN7 accessory beta subunit

OSTM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OSTM1	Q86WC4	CLCN7	Homo sapiens	P51798	Anti Tag CoIP	32851177
Intra	OSTM1	Q86WC4	CLCN7	Homo sapiens	P51798	3D-EM	32851177
Intra	OSTM1	Q86WC4	CLCN7	Homo sapiens	P51798	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant OSTM1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76531	OSTM1 Protein, Human (HEK293, His)	Q86WC4 (A32-P284)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Osteopetrosis, Autosomal Recessive 5	OPTB5 Autosomal Recessive Osteopetrosis 5 Infantile Malignant Osteopetrosis 3 Osteopetrosis, Infantile Malignant 3 Osteopetrosis Autosomal Recessive 5 Osteopetrosis And Infantile Neuroaxonal Dystrophy Autosomal Recessive Osteopetrosis Type 5 Osteopetrosis Infantile Malignant 3 Osteopetrosis, Autosomal Recessive, Type 5
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Osteopetrosis	Marble Bone Disease Albers-Schonberg Disease Osteopetroses Marble Bones Osteopetrosis And Related Disorders Congenital Osteopetrosis Marble Bone Albers-Schoenberg Disease Albers-Schonberg Osteopetrosis Osteosclerosis Fragilis Ivory Bones
Axial Osteomalacia	Atypical Osteomalacia Involving The Axial Skeleton
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Osteopetrosis, Autosomal Recessive 4	Autosomal Recessive Osteopetrosis 4 OPTB4 Infantile Malignant Osteopetrosis 2 Osteopetrosis, Infantile Malignant 2 Osteopetrosis, Autosomal Recessive, Type 4
Fibrogenesis Imperfecta Ossium	Baker'S Disease
Osteopetrosis, Autosomal Dominant 2	OPTA2 Autosomal Dominant Osteopetrosis 2 Osteopetrosis Autosomal Dominant Type 2 Osteopetrosis, Autosomal Dominant, Type Ii Albers-Schonberg Osteopetrosis Autosomal Dominant Albers-Schonberg Disease Osteopetrosis Marble Bones, Autosomal Dominant Osteosclerosis Fragilis Generalisata Albers-Schonberg Disease, Autosomal Dominant Autosomal Dominant Osteopetrosis Type Ii Albers-Schönberg Osteopetrosis Autosomal Dominant Osteopetrosis Type 2 Marble Disease Autosomal Dominant Osteopetrosis, Autosomal Dominant, Type 2
Osteopetrosis, Autosomal Recessive 2	OPTB2 Autosomal Recessive Osteopetrosis 2 Osteopetrosis, Mild Autosomal Recessive Form Osteoclast-Poor Osteopetrosis Osteopetrosis, Osteoclast-Poor Mild Autosomal Recessive Form Osteopetrosis Osteopetrosis Autosomal Recessive 2 Autosomal Recessive Osteopetrosis Type 2 Osteopetrosis Osteoclast-Poor Osteopetrosis, Autosomal Recessive, Type 2
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Pycnodysostosis	Pyknodysostosis PKND Pycd Toulouse-Lautrec Syndrome
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Osteopoikilosis	Osteopathia Condensans Disseminata Spotted Bones Dermatofibrosis Lenticularis Disseminata
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09857	OSTM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18673	Ostm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25159	Ostm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	OSTM1	VGNC	VGNC:63991
Mus musculus	OSTM1	MGD	MGI:2655574
Rattus norvegicus	OSTM1	RGD	RGD:1564976
Canis familiaris	OSTM1	VGNC	VGNC:44172
Bos taurus	OSTM1	VGNC	VGNC:32480
Macaca mulatta	OSTM1	VGNC	VGNC:75664
Others	OSTM1	NCBI