Manteia - Molecule gene

ENSMUSG00000044231

Mus musculus

Features

Gene ID:	ENSMUSG00000044231

Biological name :	Nhlrc1

Synonyms :	E3 ubiquitin-protein ligase NHLRC1 / Nhlrc1 / Q8BR37

Possible biological names infered from orthology :	NHL repeat containing E3 ubiquitin protein ligase 1 / Q6VVB1

Species:	Mus musculus

Chr. number:	13
Strand:	-1
Band:	A5
Gene start:	47012557
Gene end:	47014850

Corresponding Affymetrix probe sets:	10409016 (MoGene1.0st) 1435213_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000054990 NCBI entrez gene - 105193 See in Manteia. MGI - MGI:2145264 RefSeq - NM_175340 RefSeq Peptide - NP_780549 swissprot - Q0VF71 swissprot - Q8BR37 Ensembl - ENSMUSG00000044231

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
NHLRC1	ENSGALG00000012688	Gallus gallus
NHLRC1	ENSG00000187566	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR001841	Zinc finger, RING-type
IPR011042	Six-bladed beta-propeller, TolB-like
IPR013017	NHL repeat, subgroup
IPR013083	Zinc finger, RING/FYVE/PHD-type
IPR015943	WD40/YVTN repeat-like-containing domain superfamily
IPR017907	Zinc finger, RING-type, conserved site

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000209	protein polyubiquitination	IEA
biological_process	GO:0006914	autophagy	IEA
biological_process	GO:0016567	protein ubiquitination	IEA
biological_process	GO:0031398	positive regulation of protein ubiquitination	IDA
biological_process	GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
cellular_component	GO:0005634	nucleus	ISO
cellular_component	GO:0005783	endoplasmic reticulum	IEA
cellular_component	GO:0048471	perinuclear region of cytoplasm	IDA
molecular_function	GO:0004842	ubiquitin-protein transferase activity	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0016740	transferase activity	IEA
molecular_function	GO:0046872	metal ion binding	IEA
molecular_function	GO:0061630	ubiquitin protein ligase activity	IDA

Pathways (from Reactome)

Pathway description

Glycogen synthesis

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000243	myoclonus	"involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
MP:0000811	hippocampal neuron degeneration	"a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:72427]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0000950	pharmacologically induced seizures	"seizure activity that is brought about by treatment with pharmacological agents" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Dmd^mdx/Dmd^mdx Genetic Background: D2.B10-Dmd^mdx/J Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg},Gys1^{tm1a(EUCOMM)Wtsi}/Gys1⁺,Tg(Nes-cre)1Kag/? Genetic Background: involves: C57BL/6NTac Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg} Genetic Background: involves: C57BL/6NTac
MP:0001364	decreased anxiety-related response	"when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0001399	hyperactivity	"general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0001458	abnormal object recognition memory	"defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
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: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
MP:0001650	electrically induced seizures	"high or low frequency electrical stimulation applied to induce seizure activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, wf:Wayne Frankel , TJL staff]	Show Allelic Composition: Dmd^mdx/Dmd^mdx Genetic Background: D2.B10-Dmd^mdx/J Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg},Gys1^{tm1a(EUCOMM)Wtsi}/Gys1⁺,Tg(Nes-cre)1Kag/? Genetic Background: involves: C57BL/6NTac Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg} Genetic Background: involves: C57BL/6NTac
MP:0002066	abnormal motor capabilities/coordination/movement	"altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
MP:0002152	abnormal brain morphology	"anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0002182	abnormal astrocyte morphology	"anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0002183	gliosis	"increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0002715	reduced glycogen catabolism rate	"decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Epm2a^tm1Kzy/Epm2a^tm1Kzy Genetic Background: involves: 129P2/OlaHsd
MP:0002882	abnormal neuron	"anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6 Allelic Composition: Hprt^{tm2(CAG-Ppp1r3c)Jjg}/?,Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg} Genetic Background: involves: C57BL/6NTac
MP:0002906	susceptibility to pharmacologically induced seizures	"inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0002912	abnormal excitatory postsynaptic potential	"defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0003008	enhanced long term potentiation	"greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, J:81922]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0003224	neuron degeneration	"a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg},Gys1^{tm1a(EUCOMM)Wtsi}/Gys1⁺,Tg(Nes-cre)1Kag/? Genetic Background: involves: C57BL/6NTac Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg} Genetic Background: involves: C57BL/6NTac
MP:0003634	abnormal glia	"malformation or absence of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0004101	abnormal brain interneuron morphology	"malformation or absence of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
MP:0005440	increased glycogen level	"greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0008260	abnormal autophagy	"abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg},Gys1^{tm1a(EUCOMM)Wtsi}/Gys1⁺,Tg(Nes-cre)1Kag/? Genetic Background: involves: C57BL/6NTac Allelic Composition: Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg} Genetic Background: involves: C57BL/6NTac Allelic Composition: Hprt^{tm2(CAG-Ppp1r3c)Jjg}/?,Nhlrc1^{tm1(KOMP)Vlcg}/Nhlrc1^{tm1(KOMP)Vlcg} Genetic Background: involves: C57BL/6NTac
MP:0008840	abnormal spike wave discharge	"anomaly in the characteristic epileptiformic electroencephalographic (EEG) activity detected in generalized absence epilepsy" [PMID:16725200]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
MP:0008842	lipofuscinosis	"storage in organs of brownish fatty pigment resulting from the breakdown and absorption of damaged blood cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cfc1^b2b970Clo/Cfc1^b2b970Clo Genetic Background: C57BL/6J-Cfc1^b2b970Clo
MP:0010400	increased liver glycogen level	"greater than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Epm2a^tm1Kzy/Epm2a^tm1Kzy Genetic Background: involves: 129P2/OlaHsd
MP:0010401	increased skeletal muscle glycogen level	"greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6 Allelic Composition: Nhlrc1^tm1Bmin/Nhlrc1^tm1Bmin Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr
MP:0014063	Lafora bodies	"abnormal presence of insoluble periodic acid-Schiff-positive deposits that contain polyglucosan, a poorly branched form of glycogen, seen in familial myoclonic epilepsy; Lafora bodies develop in many tissues, including muscle, liver, and neurons, but it is generally believed that Lafora body accumulation ultimately leads to neuronal cell death" [PMID:20538597]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6 Allelic Composition: Nhlrc1^tm1.2Geno/Nhlrc1^tm1.2Geno Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Nhlrc1^tm1Bmin/Nhlrc1^tm1Bmin Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr
MP:0014071	increased cardiac muscle glycogen level	"greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle" [MGI:Anna]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6
MP:0014074	increased brain glycogen level	"greater than the normal concentration of a readily converted carbohydrate reserve in brain" [MGI:Anna]	Show Allelic Composition: Cbln1^tm1.2Mmsh/Cbln1^tm1.2Mmsh Genetic Background: involves: C57BL/6

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

External programs and data are copyrighted by and are the property of their respective authors. The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation
		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr