OSTM1 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | OSTM1 |
| Entrez Gene ID | 28962 |
| Full Name | osteopetrosis associated transmembrane protein 1 |
| Synonyms | GIPN,GL,HSPC019,OPTB5 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Osteopetrosis, autosomal recessive 5, 259720 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_014028.3 | NP_054747.2 | osteopetrosis-associated transmembrane protein 1 |
| NM_014028.4 | NP_054747.2 | osteopetrosis-associated transmembrane protein 1 |
| Xenopus tropicalis (tropical clawed frog) | ostm1 | NP_001072582.1 |
| Pan troglodytes (chimpanzee) | OSTM1 | XP_001148469.1 |
| OSTM1 | XP_001094902.1 | |
| Canis lupus familiaris (dog) | OSTM1 | XP_854990.3 |
| Gallus gallus (chicken) | OSTM1 | NP_001026248.1 |
| Homo sapiens (human) | OSTM1 | NP_054747.2 |
| Mus musculus (house mouse) | Ostm1 | NP_766004.1 |
| Rattus norvegicus (Norway rat) | Ostm1 | NP_001025096.1 |
| Bos taurus (cattle) | OSTM1 | NP_001069244.1 |
| Danio rerio (zebrafish) | ostm1 | XP_002665788.2 |
Related articles in PubMed
Ostm1 bifunctional roles in osteoclast maturation: insights from a mouse model mimicking a human OSTM1 mutation.
Pata M, Vacher J
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research(2018 Jan)
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F
European journal of human genetics : EJHG25(9)1092-1095(2017 Sep)
Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
Pandruvada SN, Beauregard J, Benjannet S, Pata M, Lazure C, Seidah NG, Vacher J
Molecular and cellular biology36(3)507-21(2015 Nov)
Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis.
Shin B, Yu J, Park ES, Choi S, Yu J, Hwang JM, Yun H, Chung YH, Hong KS, Choi JS, Takami M, Rho J
The Journal of biological chemistry289(52)35868-81(2014 Dec)
Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
H?raud C, Griffiths A, Pandruvada SN, Kilimann MW, Pata M, Vacher J
The Journal of biological chemistry289(20)13912-25(2014 May)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation.
Title: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
KIF5B is essential for Ostm1 intracellular dispersion.
Title: Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
Ostm1 has a primary and autonomous role in neuronal homeostasis
Title: Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
Common gating underlies the slow voltage activation of ClC-7.
Title: Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi
Title: Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
The following OSTM1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the OSTM1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu28292 | |
| Clone ID Related Accession (Same CDS sequence) | NM_014028.3 , NM_014028.4 | |
| Accession Version | NM_014028.3 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1005bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-10 | |
| Organism | Homo sapiens(human) | |
| Product | osteopetrosis-associated transmembrane protein 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI668275.1, AF533891.1, AJ420489.1, AA428166.1, Z98200.9, BQ716123.1, BE218267.1 and AV715475.1. This sequence is a reference standard in the RefSeqGene project. On Dec 17, 2004 this sequence version replaced NM_014028.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.53978.1, SRR1803616.249337.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_054747.2 |
| CDS | 87..1091 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_014028.3 |
ORF Insert Sequence:
1 | ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu28292 | |
| Clone ID Related Accession (Same CDS sequence) | NM_014028.3 , NM_014028.4 | |
| Accession Version | NM_014028.4 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1005bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-10-27 | |
| Organism | Homo sapiens(human) | |
| Product | osteopetrosis-associated transmembrane protein 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from Z98200.9, BI668275.1, AF533891.1, AJ420489.1, AA428166.1, BQ716123.1, BE218267.1 and AV715475.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_014028.3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.213465.1, SRR1803613.136052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000193322.8/ ENSP00000193322.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length. | |
1 | ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_054747.2 |
| CDS | 91..1095 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_014028.4 |
ORF Insert Sequence:
1 | ATGGAGCCGG GCCCGACAGC CGCGCAGCGG AGGTGTTCGT TGCCGCCGTG GCTGCCGCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Ostm1 bifunctional roles in osteoclast maturation: insights from a mouse model mimicking a human OSTM1 mutation. |
|
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. |
|
Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. |
|
Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis. |
|
Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency. |