ENSG00000064419


Homo sapiens

Features
Gene ID: ENSG00000064419
  
Biological name :TNPO3
  
Synonyms : Q9Y5L0 / TNPO3 / transportin 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q32.1
Gene start: 128954180
Gene end: 129055173
  
Corresponding Affymetrix probe sets: 212317_at (Human Genome U133 Plus 2.0 Array)   212318_at (Human Genome U133 Plus 2.0 Array)   214550_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265388
Ensembl peptide - ENSP00000487231
Ensembl peptide - ENSP00000420089
Ensembl peptide - ENSP00000418646
Ensembl peptide - ENSP00000418267
NCBI entrez gene - 23534     See in Manteia.
OMIM - 610032
RefSeq - XM_011515989
RefSeq - NM_001191028
RefSeq - NM_012470
RefSeq Peptide - NP_001177957
RefSeq Peptide - NP_036602
swissprot - Q9Y5L0
swissprot - E9PFH4
swissprot - A0A024R794
swissprot - C9J7E5
Ensembl - ENSG00000064419
  
Related genetic diseases (OMIM): 608423 - Muscular dystrophy, limb-girdle, type 1F, 608423
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tnpo3ENSDARG00000045680Danio rerio
 TNPO3ENSGALG00000039420Gallus gallus
 Tnpo3ENSMUSG00000012535Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IPO13 / O94829 / importin 13ENSG0000011740823


Protein motifs (from Interpro)
Interpro ID Name
 IPR011989  Armadillo-like helical
 IPR013598  Exportin-1/Importin-beta-like
 IPR016024  Armadillo-type fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0035048 obsolete splicing factor protein import into nucleus IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0031965 nuclear membrane IBA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008139 nuclear localization sequence binding IBA
 molecular_functionGO:0008565 protein transporter activity IBA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000820 Abnormality of the thyroid gland 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0000953 Hyperpigmentation 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001262 Somnolence 
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001399 Hepatic failure 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001409 Portal hypertension 
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 HP:0001541 Ascites 
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 HP:0002608 Celiac disease 
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 HP:0002613 Biliary cirrhosis 
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 HP:0002908 Conjugated hyperbilirubinemia 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003119 Abnormality of lipid metabolism 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003493 Antinuclear antibody positive 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004386 Gastrointestinal inflammatory disorder 
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 HP:0011040 Abnormality of the intrahepatic bile duct "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson]
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 HP:0011971 Dermatographic urticaria "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson]
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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