ENSG00000107984


Homo sapiens

Features
Gene ID: ENSG00000107984
  
Biological name :DKK1
  
Synonyms : dickkopf WNT signaling pathway inhibitor 1 / DKK1 / O94907
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q21.1
Gene start: 52314296
Gene end: 52318042
  
Corresponding Affymetrix probe sets: 204602_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363081
NCBI entrez gene - 22943     See in Manteia.
OMIM - 605189
RefSeq - NM_012242
RefSeq Peptide - NP_036374
swissprot - I1W660
swissprot - O94907
Ensembl - ENSG00000107984
  
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
 dkk1aENSDARG00000014103Danio rerio
 dkk1bENSDARG00000045219Danio rerio
 DKK1ENSGALG00000003814Gallus gallus
 Dkk1ENSMUSG00000024868Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DKK2 / Q9UBU2 / dickkopf WNT signaling pathway inhibitor 2ENSG0000015501138
DKK4 / Q9UBT3 / dickkopf WNT signaling pathway inhibitor 4ENSG0000010437129


Protein motifs (from Interpro)
Interpro ID Name
 IPR006796  Dickkopf, N-terminal cysteine-rich


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0000904 cell morphogenesis involved in differentiation IEA
 biological_processGO:0001706 endoderm formation IEA
 biological_processGO:0001707 mesoderm formation IEA
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0002090 regulation of receptor internalization IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0007611 learning or memory ISS
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0010942 positive regulation of cell death TAS
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030111 regulation of Wnt signaling pathway IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IDA
 biological_processGO:0030279 negative regulation of ossification ISS
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0032526 response to retinoic acid IEA
 biological_processGO:0033137 negative regulation of peptidyl-serine phosphorylation IDA
 biological_processGO:0042662 negative regulation of mesodermal cell fate specification IDA
 biological_processGO:0042663 regulation of endodermal cell fate specification IDA
 biological_processGO:0043066 negative regulation of apoptotic process ISS
 biological_processGO:0043507 positive regulation of JUN kinase activity IDA
 biological_processGO:0045813 positive regulation of Wnt signaling pathway, calcium modulating pathway TAS
 biological_processGO:0048642 negative regulation of skeletal muscle tissue development IEA
 biological_processGO:0050807 regulation of synapse organization IEA
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic IEA
 biological_processGO:0060173 limb development ISS
 biological_processGO:0060323 head morphogenesis IEA
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation IDA
 biological_processGO:0061743 motor learning IEA
 biological_processGO:0090082 positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway ISS
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IGI
 biological_processGO:0090244 Wnt signaling pathway involved in somitogenesis IEA
 biological_processGO:0090647 modulation of age-related behavioral decline ISS
 biological_processGO:0098883 synapse disassembly TAS
 biological_processGO:1900116 extracellular negative regulation of signal transduction IEA
 biological_processGO:1901216 positive regulation of neuron death ISS
 biological_processGO:1901296 negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment IDA
 biological_processGO:1902949 positive regulation of tau-protein kinase activity ISS
 biological_processGO:1904338 regulation of dopaminergic neuron differentiation TAS
 biological_processGO:1904723 negative regulation of Wnt-Frizzled-LRP5/6 complex assembly TAS
 biological_processGO:1904958 positive regulation of midbrain dopaminergic neuron differentiation IEA
 biological_processGO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:2000726 negative regulation of cardiac muscle cell differentiation IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0031901 early endosome membrane TAS
 molecular_functionGO:0004871 obsolete signal transducer activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity TAS
 molecular_functionGO:0039706 co-receptor binding TAS
 molecular_functionGO:0048019 receptor antagonist activity IDA
 molecular_functionGO:0050750 low-density lipoprotein particle receptor binding IDA


Pathways (from Reactome)
Pathway description
TCF dependent signaling in response to WNT
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000651 Diplopia "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators]
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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:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001293 Cranial nerve compression 
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 HP:0001437 Abnormality of the musculature of the lower limbs 
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 HP:0001605 Vocal cord paralysis 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
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 HP:0002073 Progressive cerebellar ataxia 
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 HP:0002196 Myelopathy 
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0002331 Headache (with pheochromocytoma) 
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 HP:0002395 Lower limb hyperreflexia 
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 HP:0002512 Brain stem compression 
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 HP:0002516 Increased intracranial pressure 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002953 Vertebral compression fractures 
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 HP:0003396 Syringomyelia 
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 HP:0003474 Sensory impairment 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0004602 cervical vertebral fusion, c2-c3 "Fusion of cervical vertebrae, most common of the vertebrae C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [HPO:curators]
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 HP:0004608 Anteriorly placed odontoid process 
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 HP:0005758 Foramen magnum lesion 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0007067 Peripheral sensory neuropathy, distal 
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 HP:0007099 Arnold-Chiari type I malformation "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators]
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 HP:0008615 Late onset sensorineural deafness 
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 HP:0009591 Abnormality of the VIIIth cranial nerve "Abnormality of the vestibulocochlear nerve, the VIIIth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:curators]
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 HP:0010536 Central sleep apnea "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:curators]
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 HP:0010558 Abnormality of the clivus "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum." [HPO:curators]
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 HP:0010825 Abnormality of the eleventh cranial nerve "Abnormality of the `eleventh cranial nerve` (FMA:6720)." [HPO:probinson]
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 HP:0010826 Abnormality of the twelfth cranial nerve "Abnormality of the `twelfth cranial nerve` (FMA:50871)." [HPO:probinson]
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 HP:0012046 Areflexia of upper limbs "Inability to elicit tendon reflexes in the upper limbs." [HPO:probinson]
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 HP:0012366 Basilar invagination "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain s line) or the tip of the dens is greater than 7 mm above McGregor s line (the back of the hard palate to the lowest point of the occipital squama)." [HPO:probinson, pmid:10084535]
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 HP:0012534 Dysesthesia "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432]
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 HP:0025258 Stiff neck "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." []
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030833 Neck pain "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck." [UToronto:chum]
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 HP:0040010 Small posterior fossa 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000070018 LRP6 / O75581 / LDL receptor related protein 6  / complex / reaction
 ENSG00000131650 Q8NCW0 / KREMEN2 / kringle containing transmembrane protein 2  / complex / reaction
 ENSG00000162337 LRP5 / O75197 / LDL receptor related protein 5  / reaction






 

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