OSTM1 (osteopetrosis associated transmembrane protein 1)

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Keyword

Gene: OSTM1 (osteopetrosis associated transmembrane protein 1) Homo sapiens

Symbol:

OSTM1

Name:

osteopetrosis associated transmembrane protein 1

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

chloride channel 7 beta subunit; GAIP-interacting protein N terminus; GIPN; GL; grey-lethal osteopetrosis; HSPC019; OPTB5; osteopetrosis-associated transmembrane protein 1; OTTHUMP00000016938; OTTHUMP00000196342

Orthologs:

Mus musculus : Ostm1 (osteopetrosis associated transmembrane protein 1) MGI

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	6	108,360,700 - 108,394,022	-	NCBI
Human Genome Assembly HuRef	6	105,930,856 - 105,964,198	-	NCBI
Human Genome Assembly GRCh37	6	108,362,613 - 108,395,941	-	NCBI
Human Genome Assembly Build 36	6	108,469,306 - 108,502,634	-	NCBI
Human Cytogenetic Map	6	q21		NCBI
Human Genome Assembly	6	108,469,305 - 108,502,634		NCBI