1p36 copy number variation syndrome (Homo sapiens)

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24453022322515119397247246453524522Retention of ER proteinsunknown functionp53/TP53 apoptosisTranscriptional repressorHDAC p53/TP53Increased energymetabolismRegulates calcium-dependant activities in the ER lumen or post-ER compartmentActivation ofinnate immunityPRC1 component together with SAMD7unknown functionDNA-templated transcriptionLong-term T-cellimunitryTonic inhibitionFormation NMJTranscription by RNA polymerase IIInteraction betweenactivated T-lymphocytes& endothelial cells & T-cell receptor mediated apoptosisencodes a component of the extracellular matrix pre-RNA splicingDecrease stabilityof the leptin mRNATNFSF18NFkB activationvia TRAF2/NIKIFIH1Mitochondrial Biogenesis IL-1 induced activation of NF-kBPEX5MIR6726ELAVL1miR-targeted genes IFIT1Regulation of IGF transport and uptake by IGF binding proteinsAGRNMUSKTNFSF4LRP4MIR429C1orf159NOC2L50PERM1TNFRSF433HES4MIR200APLEKHN1TNFRSF18KLHL1726AGRN34MIR200BSDF4ISG15RNF2231111Chromosome 1:12,010 - 1,335,314MIR6859-1MIR6859-2OR4F29MIR1302-2ORF4F511Olfactory receptor activity OR4F16SAMD11Chromosome 1: 1,335,276 - 2,505,532 832162713, 532331868Unknown function43Th2 differentiationGamma-secretase complex assemblyAnexome assemblyMembrane componentEnables calcium ion binding activity, Enzyme regulator activity.Regulation of catalytic activitySMAD2ApoptosisNADP+PIP2IP3Canonical NF-kB pathwaySMAD3IL-4 signaling pathwayTGF-B signaling pathwayPEX12DiacylglycerolSMAD4PI3K-Akt signaling pathwayNAD+DNA repair pathwaysCDK11ANADKGNB1CALML6CFAP74TMEM52GABRDPLCH2PEX10MORN1RER1PRKCZFAAP20SKIPEX2PEX10Retrotranslocation channelCell cycleCytokinesis4940E3 ubiquitin-protein ligase complexCUL3BTBRBX1GRIK21714, 55544810, 285ribosomal large subunit assembly zinc ion bindingmitochondrial organizationnucleotide/ATP bindingATP hydrolysis activity actin bindingzinc and metal ion bindingtransferase activityECM organizationcollagen catabolic processpepitdase/hydrolase activtiyzinc and metal ion bindingDLSTCOMMD1MMP23BCDK11BMCM2ANKRD65ATAD3CPARD6BMitochondrial translation ESR1KRT17PHKG2DKK3Chronic hyperglycemia impairment of neuron function SSU72TGFB120RNA polymerase II transcribes snRNA genes ATAD3B39S TRIM25ATAD3AMEPCEMitotic G2-G2/M phasesPost-translational protein phosphorylation FNDC10SLC35E2BMatrix metalloproteinasesTMEM88BHSPA8MRPL20METTL14 MIB2GDE128SVWA1TMEM240cytokinesisapoptosisNOTCH1/2/3 signaling Class I MHC mediated antigen processing and presentation595261584437319, 15, 291237599, 293225During DevelopmentUnknownWNT-SignallingGlucose ImportINTS11TAS1R3IL-1B SynthesisPI3K-Akt-mTOR-signalingGlucogenesismRNA 3'-ProcessingtRNA pseudouridine synthesisPUSL1SCNN1DVEGFPI3K-AktArf6 GTP-aseINTS1121INTS9Insulin Receptor Signalling PathwayVTN Beta 1-3-linked galactoseUmami Taste PerceptionINTS13Proinflammatory Gene ExpressionCCNL2DVL1INTS4ACAP3Neuron MorphogenesisENaC Subunit of Epithelial Sodium Channel36INTS10CPTPUbiquitinationUBE2J241INTS14AURKAIP1NLRP3 InflammasomeC1QTNF12MXRA8UDP-galactoseB3GALT6C1PC1PMIR6727MIR6808


Description

1p36 deletion syndrome is a rare genetic disorder caused by the deletion of the most distal light band of the short arm of chromosome 1.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134459view00:16, 22 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
134458view00:16, 22 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
134399view19:50, 21 July 2024EweitzRemove template comments
127117view22:40, 3 August 2023AlexanderPicofixed characters in bibliography
127026view10:08, 24 July 2023FehrhartModified description
127025view10:06, 24 July 2023Fehrhartupdate and corrections
127005view14:27, 17 July 2023Ash iyerupdated literature
126967view07:35, 9 July 2023EgonwLooked up the ChEBI identifier in Uniprot for the C1P with full stereochem defined
126542view09:04, 30 May 2023FehrhartConverted interaction to graphical line
126541view08:59, 30 May 2023Fehrhartgraphical update
126462view19:10, 1 May 2023AlexanderPicofixed citations
126451view19:51, 30 April 2023AlexanderPicoModified description
126450view19:48, 30 April 2023AlexanderPicoModified description
126161view17:07, 11 April 2023Ash iyerUpdated missing annotations
126111view15:21, 6 April 2023FehrhartModified title
126097view09:15, 5 April 2023KieranReidyChanged the interactions going from VEGF to PI3K-Akt and VTN to PI3K-Akt-mTor signaling from stimulatory to inhibitory
126082view16:37, 2 April 2023KieranReidyAdded 3 missing miRNA's. Changed 3 miRNA's to the correct color and changed their biological type to RNA. Fixed unconnected interactions. Fixed the annotation for the chromosomal location
126044view13:23, 29 March 2023Clarissafalempinthe node names were changes (punctuation issues) and the 4 unlinked interactions should have been fixed.
126043view12:49, 29 March 2023FehrhartOntology Term : 'disease pathway' added !
126021view12:27, 28 March 2023Kay.VeurinkChanged chromosome line from black to red
126020view12:25, 28 March 2023JHekmaWierdaChanged unkown Data nodes into labels
126004view10:37, 25 March 2023EgonwOne more clickable pathway
126001view21:12, 24 March 2023EgonwMade two pathways clickable
125999view21:09, 24 March 2023EgonwUse Uniprot-TrEMBL to make the linkout works
125950view10:32, 23 March 2023ElenaDR1Ontology Term : 'chromosome 1p36 deletion syndrome' added !
125934view22:28, 21 March 2023KieranReidyModified title
125933view22:26, 21 March 2023KieranReidyRemoved unnecessary information and changed certain "unknown function" data nodes to lables
125932view22:20, 21 March 2023KieranReidyNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
28SGeneProductENSG00000242485 (Ensembl) small ribosomal subunit
39S ProteinENSG00000242485 (Ensembl)
  • add the complex of the ribosome
  • good for yeast, add in the genes
ACAP3GeneProductENSG00000131584 (Ensembl)
AGRNGeneProductENSG00000188157 (Ensembl)
ANKRD65GeneProductENSG00000235098 (Ensembl) ankyrin repeat domain 65, 5 transcripts, Protein Coding gene. Diseases associated with ANKRD65 include Large Intestine Adenocarcinoma and Brachial Plexus Neuritis. An important paralog of this gene is CTTNBP2. protein binding
ATAD3AGeneProductENSG00000197785 (Ensembl) ATPase family AAA domain containing 3A, This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. regulation of cell growth, mitochondrial organization, negative regulation of apoptosis, antivial innate immune response, nucleotide/protein/ATP and identical protein binding, ATP hydrolysis activity
ATAD3BGeneProductENSG00000160072 (Ensembl) ATPase family AAA domain containing 3B mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity. pathways: immune system, neutrophil degranulation, innnate immune system
ATAD3CGeneProductENSG00000215915 (Ensembl) "ATPase family AAA domain containing 3C, Predicted to enable zinc ion binding activity. Diseases associated with ATAD3C include Pontocerebellar Hypoplasia, Type 4 and Pontocerebellar Hypoplasia, Type 3. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is ATAD3A. organization. Located in mitochondrion. lung carcinoma mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity
AURKAIP1 GeneProductENSG00000175756 (Ensembl)
ApoptosisPathwayWP254 (WikiPathways)
Arf6 GTP-aseGeneProductP62330 (Uniprot-TrEMBL)
B3GALT6GeneProductENSG00000176022 (Ensembl)
BTBGeneProduct
Beta 1-3-linked galactoseMetabolite
C1PMetabolite6384103 (PubChem-compound)
C1QTNF12GeneProductENSG00000184163 (Ensembl)
C1orf159GeneProductENSG00000131591 (Ensembl)
CALML6GeneProductENSG00000169885 (Ensembl)
CCNL2 GeneProductENSG00000221978 (Ensembl)
CDK11AGeneProductENSG00000008128 (Ensembl)
CDK11BGeneProductENSG00000248333 (Ensembl) "cyclin dependent kinase 11B. member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner." mitotic cell cycle, regulation cell growth and DNA templated transcription, regulation of mRNA processing, nucleotide/RNA/ATP/protein . pathways: G2/M transition, centrosome maturation, cell cycle, recruitment mitotic centrosome binding, kinase/transferase activity
CFAP74GeneProductENSG00000142609 (Ensembl)
COMMD1GeneProductENSG00000173163 (Ensembl)
CPTPGeneProductENSG00000224051 (Ensembl)
CUL3GeneProduct8452 (Entrez Gene)
Canonical NF-kB pathwayPathwayWP4562 (WikiPathways)
Cell cyclePathwayWP844 (WikiPathways)
Chronic hyperglycemia impairment of neuron function PathwayWP5283 (WikiPathways)
Class I MHC mediated antigen processing and presentationPathwayWP2722 (WikiPathways)
CytokinesisPathwayWP530 (WikiPathways)
DKK3GeneProductENSG00000050165 (Ensembl)
DLSTGeneProductENSG00000119689 (Ensembl)
DNA repair pathwaysPathwayWP4946 (WikiPathways)
DVL1GeneProductENSG00000107404 (Ensembl)
DiacylglycerolMetaboliteHMDB0242173 (HMDB)
E3 ubiquitin-protein ligase complexGeneProduct
ELAVL1GeneProduct1994 (Entrez Gene)
ENaC Subunit of Epithelial Sodium ChannelGeneProductENST00000379116.10 (Ensembl)
ESR1GeneProductENSG00000091831 (Ensembl)
FAAP20GeneProductENSG00000162585 (Ensembl)
FNDC10GeneProductENSG00000228594 (Ensembl) fibronectin type III domain containing 10 in membrane Predicted to be integral component of membrane.
GABRDGeneProductENSG00000187730 (Ensembl)
GDE1GeneProductENSG00000006007 (Ensembl)
GNB1GeneProductENSG00000078369 (Ensembl)
GRIK2GeneProduct2898 (Entrez Gene) GLUR6
Glucogenesis PathwayWP534 (WikiPathways)
Glucose ImportPathwayWP534 (WikiPathways)
HES4GeneProductENSG00000188290 (Ensembl) HES4 promotes inititiation of early T-cell development via notch signalling
HSPA8GeneProductENSG00000109971 (Ensembl)
IFIH1GeneProductENSG00000115267 (Ensembl)
IFIT1GeneProductENSG00000185745 (Ensembl)
IL-1 induced activation of NF-kBPathwayWP3656 (WikiPathways)
IL-1B Synthesis PathwayR-HSA-448706 (Reactome)
IL-4 signaling pathwayPathwayWP395 (WikiPathways)
INTS10GeneProductENSG00000104613 (Ensembl)
INTS11 GeneProductENSG00000127054 (Ensembl)
INTS13 GeneProductENSG00000064102 (Ensembl)
INTS14 GeneProductENSG00000138614 (Ensembl)
INTS4GeneProductENSG00000149262 (Ensembl)
INTS9 GeneProductENSG00000104299 (Ensembl)
IP3MetaboliteCHEBI:16595 (ChEBI)
ISG15GeneProductENSG00000187608 (Ensembl) Ubiquiting-like protein
Insulin Receptor Signalling PathwayPathwayWP481 (WikiPathways)
KLHL17GeneProductENSG00000187961 (Ensembl) Promotes profileration + migration via the Ras + MAPK pathway
KRT17GeneProductENSG00000128422 (Ensembl)
LRP4GeneProductENSG00000134569 (Ensembl)
MCM2GeneProductENSG00000073111 (Ensembl)
MEPCEGeneProductENSG00000146834 (Ensembl)
METTL14 GeneProductENSG00000145388 (Ensembl)
MIB2GeneProductENSG00000197530 (Ensembl) MIB E3 ubiquitin protein ligase 2 or skeletrophin. The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. "protein encoding, pathways: notch signaling and siganl transduction, protein ubiquitination, regulation of NFkB singaling, actrin binding, zinc and metal ion binding, transferase activity. mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors."
MIR1302-2RnaENSG00000284332 (Ensembl) Chromosome 1:30,366-30,503
MIR200ARnaENSG00000207607 (Ensembl)
MIR200BRnaENSG00000207730 (Ensembl) ncRNA (MiRNA)
MIR429RnaENSG00000198976 (Ensembl)
MIR6726RnaENSG00000278073 (Ensembl)
MIR6727RnaENSG00000283712 (Ensembl)
MIR6808RnaENSG00000284372 (Ensembl)
MIR6859-1RnaENSG00000278267 (Ensembl) RS:Chromosome 1:17,369-17,436
MIR6859-2RnaENSG00000273874 (Ensembl) RS:Chromosome 1:187,891-187,958
MMP23BGeneProductENSG00000189409 (Ensembl) matrix metallopeptidase 23B. it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis.

"reproduction, proteolysis, ECM organization, collagen catabolic process, pepitdase/hydrolase activtiy, zinc and metal ion binding. Protease.

May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum "
MORN1GeneProductENSG00000116151 (Ensembl)
MRPL20GeneProductENSG00000224870 (Ensembl)
  • affiliated with the lncRNA class, appendicular lean mass; is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.
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MUSKGeneProductENSG00000030304 (Ensembl)
MXRA8 GeneProductENSG00000162576 (Ensembl)
Matrix metalloproteinasesPathwayWP129 (WikiPathways)
Mitochondrial Biogenesis PathwayWP3331 (WikiPathways)
Mitochondrial translation PathwayWP3310 (WikiPathways)
Mitotic G2-G2/M phasesPathwayWP1859 (WikiPathways)
NAD+MetaboliteCHEBI:15846 (ChEBI)
NADKGeneProductENSG00000008130 (Ensembl)
NADP+MetaboliteHMDB0304435 (HMDB)
NFkB activation via TRAF2/NIKPathwayWP3849 (WikiPathways)
NLRP3 InflammasomePathwayR-HSA-844456 (Reactome)
NOC2LGeneProductENSG00000188976 (Ensembl) NOC2L is an inhibitor of histone acetyltransferase (INHAT)
NOTCH1/2/3 signaling PathwayWP2720 / WP2718 / WP2722 (WikiPathways)
Neuron MorphogenesisPathway
OR4F16GeneProductENSG00000284662 (Ensembl)
OR4F29GeneProductENSG00000284733 (Ensembl) RS:Chromosome 1:450,740-451,678
ORF4F5GeneProductENSG00000186092 (Ensembl) Chromosome 1: 65,419-71,585
Olfactory receptor activity PathwayWP3608 (WikiPathways)
PARD6BGeneProductENSG00000124171 (Ensembl)
PERM1GeneProductENSG00000187642 (Ensembl) Regulates energy metabolism via ERPa/PGC-1a
PEX10GeneProduct5192 (Entrez Gene)
PEX12GeneProduct5193 (Entrez Gene)
PEX2GeneProduct5828 (Entrez Gene)
PEX5GeneProductENSG00000139197 (Ensembl)
PHKG2GeneProductENSG00000156873 (Ensembl)
PI3K-Akt signaling pathwayPathwayWP4172 (WikiPathways)
PI3K-Akt-mTOR-signalingPathwayWP3932 (WikiPathways)
PI3K-AktPathwayWP4172 (WikiPathways)
PIP2MetaboliteQ3083814 (Wikidata)
PLCH2GeneProductENSG00000149527 (Ensembl)
PLEKHN1GeneProductENSG00000187583 (Ensembl) Promote apoptosis via Bax-Bak
PRKCZGeneProductENSG00000067606 (Ensembl)
PUSL1GeneProductENSG00000169972 (Ensembl)
Post-translational

protein phosphorylation

PathwayWP4110 (WikiPathways)
Proinflammatory Gene ExpressionPathwayWP195 (WikiPathways)
RBX1GeneProduct9978 (Entrez Gene)
RER1GeneProductENSG00000157916 (Ensembl)
RNA polymerase II transcribes snRNA genes PathwayWP3827 (WikiPathways)
RNF223GeneProductENSG00000237330 (Ensembl)
Regulation of IGF

transport and uptake by IGF binding proteins

PathwayWP2799 (WikiPathways)
SAMD11GeneProductENSG00000187634 (Ensembl)
SCNN1DGeneProductENSG00000162572 (Ensembl)
SDF4GeneProductENSG00000078808 (Ensembl)
SKIGeneProductENSG00000157933 (Ensembl)
SLC35E2BGeneProductSLC35E2B (HGNC) solute carrier family 35 member E2B , . Predicted to be involved in transmembrane transport. Predicted to act upstream of or within blastocyst hatching. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. transmembrane transport, antiporter activity
SMAD2GeneProductSMAD2 (HGNC)
SMAD3GeneProductSMAD3 (HGNC)
SMAD4GeneProductSMAD4 (HGNC)
SSU72GeneProductENSG00000160075 (Ensembl)
TAS1R3GeneProductENSG00000169962 (Ensembl)
TGF-B signaling pathway PathwayWP366 (WikiPathways)
TGFB1 GeneProductENSG00000105329 (Ensembl)
TMEM240GeneProductENSG00000228594 (Ensembl)
  • transmembrane protein 240 inplasma membrane. synaptic membrane as well. this gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. protein encoding
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TMEM52GeneProductENSG00000178821 (Ensembl)
TMEM88BGeneProductENSG00000205116 (Ensembl) transmembrane protein 88B, Diseases associated with TMEM88B include Alexithymia. protein coding
TNFRSF18GeneProductENSG00000186891 (Ensembl)
TNFRSF4GeneProductENSG00000186827 (Ensembl)
TNFSF18GeneProductENSG00000120337 (Ensembl)
TNFSF4GeneProductENSG00000117586 (Ensembl)
TRIM25GeneProductENSG00000121060 (Ensembl)
UBE2J2GeneProductENSG00000160087 (Ensembl)
UDP-galactoseMetaboliteHMDB0000302 (HMDB)
UbiquitinationPathwayWP3199 (WikiPathways)
Umami Taste PerceptionPathwayWP1397 (WikiPathways)
VEGFProteinA0A024RD37 (Uniprot-TrEMBL)
VTN ProteinP04004 (Uniprot-TrEMBL)
VWA1GeneProductENSG00000179403 (Ensembl) von Willebrand factor A domain containing 1, A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function protein coding, enables ECM organization and identical protein binding, behavioral response to pain, protein binding. pathway regulation of insulin growth like factor binding, vital capacity, PTM phosphorylation/ modification, protein metabolism

cartilage structure ECM organization

identical protein binding
WNT-Signalling Pathway19587085 (WikiPathways)
mRNA 3'-Processing PathwayR-HSA-72187 (Reactome)
miR-targeted genes PathwayWP2002 (WikiPathways)
tRNA pseudouridine synthesisPathwayR-SCE-6790166 (Reactome)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5345"
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