Property Summary

NCBI Gene PubMed Count 22
Grant Count 25
R01 Count 16
Funding $819,620.38
PubMed Score 18.87
PubTator Score 19.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis 1.300 0.021
osteosarcoma -1.340 0.009
glioblastoma 1.200 0.035
atypical teratoid/rhabdoid tumor -1.200 0.000
medulloblastoma, large-cell -1.600 0.000
acute quadriplegic myopathy 1.351 0.000
lung cancer -1.800 0.000
interstitial cystitis 1.100 0.000
subependymal giant cell astrocytoma 1.716 0.042
ovarian cancer -2.900 0.000
dermatomyositis 1.100 0.009

Gene RIF (13)

PMID Text
26598607 KIF5B is essential for Ostm1 intracellular dispersion.
24719316 Ostm1 has a primary and autonomous role in neuronal homeostasis
23983121 Common gating underlies the slow voltage activation of ClC-7.
23685543 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
21527911 The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes.
19507210 Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively.
19453261 Observational study of gene-disease association. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
18296023 mutations in OSTM1 such as the C-terminal deletion mutant studied herein provoke dysregulation of the canonical Wnt/beta-catenin signaling pathway, providing a molecular basis for severe autosomal recessive osteopetrosis
17985267 This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis.
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AA Sequence

MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGP      1 - 70
LSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQ     71 - 140
SCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHS    141 - 210
LLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCS    211 - 280
DTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN                    281 - 334
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Publication (32)

PMID Year Title
26598607 2015 Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
24719316 2014 Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23983121 2013 Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
23685543 2013 Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21527911 2011 ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
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