2. Gene
  3. OSTM1 - osteoclastogenesis associated transmembrane protein 1 Gene

OSTM1 - osteoclastogenesis associated transmembrane protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GL; GIPN; OPTB5; HSPC019

Gene ID: 28962 | Gene type: protein coding

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

OSTM1 Protein Structure

OSTMP1

OSTMP1: Osteopetrosis-associated transmembrane protein 1 precursor (84 - 330)

  • 0
  • 100
  • 200
  • 300
  • 334 a.a.
Protein Preferred Names Protein Names

osteopetrosis-associated transmembrane protein 1

CLCN7 accessory beta subunit

Recombinant OSTM1 Proteins

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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09857 OSTM1 Human Pre-designed siRNA Set A / 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