ENSMUSG00000004567


Mus musculus

Features
Gene ID: ENSMUSG00000004567
  
Biological name :Mcoln1
  
Synonyms : Mcoln1 / Mucolipin-1 / Q99J21
  
Possible biological names infered from orthology : Q9GZU1
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: A1.1
Gene start: 3500457
Gene end: 3515232
  
Corresponding Affymetrix probe sets: 10569771 (MoGene1.0st)   1416671_a_at (Mouse Genome 430 2.0 Array)   1416672_s_at (Mouse Genome 430 2.0 Array)   1431305_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000004683
Ensembl peptide - ENSMUSP00000146727
Ensembl peptide - ENSMUSP00000146598
Ensembl peptide - ENSMUSP00000146575
Ensembl peptide - ENSMUSP00000146452
Ensembl peptide - ENSMUSP00000123717
NCBI entrez gene - 94178     See in Manteia.
MGI - MGI:1890498
RefSeq - NM_053177
RefSeq Peptide - NP_444407
swissprot - A0A140LHW6
swissprot - A0A140LHK5
swissprot - E0CZ07
swissprot - Q99J21
swissprot - A0A140LI94
swissprot - A0A140LHY3
Ensembl - ENSMUSG00000004567
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mcoln1aENSDARG00000002285Danio rerio
 mcoln1bENSDARG00000058848Danio rerio
 MCOLN1ENSG00000090674Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mcoln3 / Q8R4F0 / mucolipin 3 / Q8TDD5*ENSMUSG0000003685353
Mcoln2 / Q8K595 / Mucolipin-2 / Q8IZK6*ENSMUSG0000001100845


Protein motifs (from Interpro)
Interpro ID Name
 IPR013122  Polycystin cation channel, PKD1/PKD2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0016197 endosomal transport ISO
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051289 protein homotetramerization IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0071277 cellular response to calcium ion IMP
 biological_processGO:0071467 cellular response to pH IMP
 biological_processGO:0097352 autophagosome maturation IMP
 biological_processGO:0098655 cation transmembrane transport IDA
 cellular_componentGO:0001891 phagocytic cup IEA
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043235 receptor complex IEA
 molecular_functionGO:0005261 cation channel activity ISO
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0072345 NAADP-sensitive calcium-release channel activity IEA
 molecular_functionGO:0097682 intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity IDA
 molecular_functionGO:0099604 ligand-gated calcium channel activity IEA


Pathways (from Reactome)
Pathway description
TRP channels
Transferrin endocytosis and recycling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000470 abnormal stomach morphology "malformation of the sac-like structure of the digestive canal between the esophagus and the small intestine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Wnt3astrtls/Wnt3astrtls
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0000539 distended urinary bladder "stretched musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Mcoln1tm1Asoy/Mcoln1tm1Asoy
Genetic Background: involves: 129 * C57BL/6

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001330 abnormal optic nerve morphology "malformation, misprojection or atrophy in the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Wnt3astrtls/Wnt3astrtls
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0002451 abnormal macrophage physiology "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0003883 enlarged stomach "increased size of the stomach" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mcoln1tm1Asoy/Mcoln1tm1Asoy
Genetic Background: involves: 129 * C57BL/6

 MP:0004139 abnormal parietal cell morphology "malformation of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mcoln1tm1Asoy/Mcoln1tm1Asoy
Genetic Background: involves: 129 * C57BL/6

 MP:0004731 increased circulating gastrin level "greater concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Mcoln1tm1Asoy/Mcoln1tm1Asoy
Genetic Background: involves: 129 * C57BL/6

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0008006 increased stomach pH "change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mcoln1tm1Asoy/Mcoln1tm1Asoy
Genetic Background: involves: 129 * C57BL/6

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0008513 thin retinal inner plexiform layer "reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0008843 absent subcutaneous adipose tissue "absence of adipose tissue beneath the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

 MP:0010792 abnormal stomach mucosa morphology "any structural anomaly of the mucous layer of the stomach wall which contains the gastric pits and glands, and consists of epithelium, lamina propria, and the muscularis mucosae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf2rtm1Rlj/Igf2r+,Tg(Ckmm-cre)1Lrsn/0
Genetic Background: involves: 129 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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