Details for: OSTM1

Gene ID: 28962

Symbol: OSTM1

Ensembl ID: ENSG00000081087

Description: osteoclastogenesis associated transmembrane protein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 190.1698
    Cell Significance Index: -29.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 123.7170
    Cell Significance Index: -31.3800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 67.1224
    Cell Significance Index: -31.6900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 66.7065
    Cell Significance Index: -27.1000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 59.3816
    Cell Significance Index: -30.5500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.6046
    Cell Significance Index: -27.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.5240
    Cell Significance Index: -31.4700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.8176
    Cell Significance Index: -26.3000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.3413
    Cell Significance Index: -25.6200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.0929
    Cell Significance Index: -31.9400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.0731
    Cell Significance Index: -15.4800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.7419
    Cell Significance Index: 43.9900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.0406
    Cell Significance Index: 373.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9870
    Cell Significance Index: 198.0000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7259
    Cell Significance Index: 655.4800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.6827
    Cell Significance Index: 18.2300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6741
    Cell Significance Index: 109.6300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6243
    Cell Significance Index: 32.5200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5829
    Cell Significance Index: 32.7100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5542
    Cell Significance Index: 383.3100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.5155
    Cell Significance Index: 4.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4518
    Cell Significance Index: 12.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3401
    Cell Significance Index: 39.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3363
    Cell Significance Index: 66.7400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3217
    Cell Significance Index: 34.9900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2668
    Cell Significance Index: 34.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2518
    Cell Significance Index: 45.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2502
    Cell Significance Index: 30.7600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1923
    Cell Significance Index: 5.3800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1729
    Cell Significance Index: 1.4100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1723
    Cell Significance Index: 10.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1444
    Cell Significance Index: 19.8300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1431
    Cell Significance Index: 9.0200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1156
    Cell Significance Index: 51.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1088
    Cell Significance Index: 10.7600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1018
    Cell Significance Index: 7.0400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1000
    Cell Significance Index: 19.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0798
    Cell Significance Index: 4.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0622
    Cell Significance Index: 2.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0376
    Cell Significance Index: 20.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0340
    Cell Significance Index: 21.5700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0302
    Cell Significance Index: 5.1500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0272
    Cell Significance Index: 51.2300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0260
    Cell Significance Index: 1.6000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0158
    Cell Significance Index: 29.0800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0138
    Cell Significance Index: 0.3000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0132
    Cell Significance Index: 17.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0110
    Cell Significance Index: 5.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0102
    Cell Significance Index: 15.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0040
    Cell Significance Index: -0.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0088
    Cell Significance Index: -6.5400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0117
    Cell Significance Index: -7.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0158
    Cell Significance Index: -0.2700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0249
    Cell Significance Index: -14.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0289
    Cell Significance Index: -21.9100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0291
    Cell Significance Index: -21.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0361
    Cell Significance Index: -2.5500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0511
    Cell Significance Index: -10.7700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0560
    Cell Significance Index: -6.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0578
    Cell Significance Index: -5.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0585
    Cell Significance Index: -3.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0596
    Cell Significance Index: -2.7000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0613
    Cell Significance Index: -4.1200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0752
    Cell Significance Index: -1.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0927
    Cell Significance Index: -26.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1000
    Cell Significance Index: -11.4600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1040
    Cell Significance Index: -2.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1056
    Cell Significance Index: -4.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1154
    Cell Significance Index: -16.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1209
    Cell Significance Index: -4.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1332
    Cell Significance Index: -17.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1477
    Cell Significance Index: -11.0100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1549
    Cell Significance Index: -4.2200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1637
    Cell Significance Index: -3.5000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1662
    Cell Significance Index: -10.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1860
    Cell Significance Index: -8.7400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1870
    Cell Significance Index: -21.3500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2441
    Cell Significance Index: -5.3500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2614
    Cell Significance Index: -7.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2666
    Cell Significance Index: -27.7600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3201
    Cell Significance Index: -9.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3335
    Cell Significance Index: -4.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3371
    Cell Significance Index: -20.6700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3603
    Cell Significance Index: -8.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3638
    Cell Significance Index: -28.8100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3852
    Cell Significance Index: -2.6100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4074
    Cell Significance Index: -13.0500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4939
    Cell Significance Index: -9.9200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5000
    Cell Significance Index: -5.9600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5028
    Cell Significance Index: -10.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5104
    Cell Significance Index: -17.7400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5210
    Cell Significance Index: -11.1000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5349
    Cell Significance Index: -10.4400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5574
    Cell Significance Index: -11.8300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6264
    Cell Significance Index: -20.5100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6390
    Cell Significance Index: -20.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6672
    Cell Significance Index: -17.1500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6899
    Cell Significance Index: -24.1700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6933
    Cell Significance Index: -17.3300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.7160
    Cell Significance Index: -15.4700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** OSTM1 is a transmembrane protein that belongs to the family of chloride channels. Its expression is widespread, with significant presence in various cell types, including osteoclasts, neurons, and macrophages. The protein's structure consists of a cytoplasmic tail and a transmembrane domain, allowing it to interact with other proteins and modulate cellular signaling pathways. OSTM1 has been shown to be involved in the regulation of chloride ion transport, which is essential for maintaining proper ionic balance and cellular homeostasis. **Pathways and Functions:** OSTM1 has been implicated in several signaling pathways, including the chloride channel complex, cytosol, ion channel transport, lysosomal membrane, osteoclast differentiation, protein binding, stimuli-sensing channels, transepithelial chloride transport, and transport of small molecules. The protein's functions can be broadly categorized into two main areas: 1. **Osteoclastogenesis:** OSTM1 has been shown to play a crucial role in regulating osteoclast formation and function. The protein interacts with other proteins, such as RANKL and OPG, to modulate the osteoclast differentiation process. OSTM1's expression is upregulated in osteoclasts, suggesting that it may be involved in the regulation of bone resorption. 2. **Cellular signaling:** OSTM1 has been implicated in various cellular signaling pathways, including those involved in ion transport, protein binding, and stimuli-sensing. The protein's ability to interact with other proteins and modulate signaling pathways suggests that it may play a role in maintaining cellular homeostasis and regulating various cellular processes. **Clinical Significance:** OSTM1 has been associated with several diseases, including osteopetrosis, a rare genetic disorder characterized by increased bone density and reduced bone resorption. Mutations in the OSTM1 gene have been identified in patients with osteopetrosis, highlighting the protein's critical role in regulating osteoclastogenesis and bone remodeling. Additionally, OSTM1 has been implicated in other diseases, including cancer, where its expression has been linked to tumor progression and metastasis. In conclusion, OSTM1 is a critical protein involved in regulating osteoclastogenesis and cellular signaling pathways. Further studies are needed to fully elucidate the protein's mechanisms of action and its implications in human health and disease.

Genular Protein ID: 3987486782

Symbol: OSTM1_HUMAN

Name: Osteopetrosis-associated transmembrane protein 1

UniProtKB Accession Codes:

Q86WC4 E1P5E3 Q5R391 Q6PCA7 Q7RTW6 Q8NC29 Q8TC82 Q9Y2S9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 6 Ensembl 3 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12627228

Title: Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.

PubMed ID: 12627228

DOI: 10.1038/nm842

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12079282

Title: Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.

PubMed ID: 12079282

DOI: 10.1006/geno.2002.6795

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16813530

Title: Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

PubMed ID: 16813530

DOI: 10.1359/jbmr.060403

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21527911

Title: ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.

PubMed ID: 21527911

DOI: 10.1038/emboj.2011.137

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 334
  • Mass: 37257
  • Checksum: 108719C2FDC5853D
  • Sequence:
    • MEPGPTAAQR RCSLPPWLPL GLLLWSGLAL GALPFGSSPH RVFHDLLSEQ QLLEVEDLSL 
SLLQGGGLGP LSLPPDLPDL DPECRELLLD FANSSAELTG CLVRSARPVR LCQTCYPLFQ 
QVVSKMDNIS RAAGNTSESQ SCARSLLMAD RMQIVVILSE FFNTTWQEAN CANCLTNNSE 
ELSNSTVYFL NLFNHTLTCF EHNLQGNAHS LLQTKNYSEV CKNCREAYKT LSSLYSEMQK 
MNELENKAEP GTHLCIDVED AMNITRKLWS RTFNCSVPCS DTVPVIAVSV FILFLPVVFY 
LSSFLHSEQK KRKLILPKRL KSSTSFANIQ ENSN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.