1p36 copy number variation syndrome (Homo sapiens)
From WikiPathways
Description
1p36 deletion syndrome is a rare genetic disorder caused by a deletion 0n chromosome 1 in the range 0.01-2.5-mb-
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History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
28S | GeneProduct | ENSG00000242485 (Ensembl) | small ribosomal subunit |
39S | Protein | ENSG00000242485 (Ensembl) |
|
ACAP3 | GeneProduct | ENSG00000131584 (Ensembl) | |
AGRN | GeneProduct | ENSG00000188157 (Ensembl) | |
ANKRD65 | GeneProduct | ENSG00000235098 (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 |
ATAD3A | GeneProduct | ENSG00000197785 (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 |
ATAD3B | GeneProduct | ENSG00000160072 (Ensembl) | ATPase family AAA domain containing 3B mitochondrial organization, nucleotide/ATP binding, ATP hydrolysis activity. pathways: immune system, neutrophil degranulation, innnate immune system |
ATAD3C | GeneProduct | ENSG00000215915 (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 | GeneProduct | ENSG00000175756 (Ensembl) | |
Apoptosis | Pathway | WP254 (WikiPathways) | |
Arf6 GTP-ase | GeneProduct | P62330 (Uniprot-TrEMBL) | |
B3GALT6 | GeneProduct | ENSG00000176022 (Ensembl) | |
BTB | GeneProduct | ||
C1P | Metabolite | 6384103 (PubChem-compound) | |
C1QTNF12 | GeneProduct | ENSG00000184163 (Ensembl) | |
C1orf159 | GeneProduct | ENSG00000131591 (Ensembl) | |
CALML6 | GeneProduct | ENSG00000169885 (Ensembl) | |
CCNL2 | GeneProduct | ENSG00000221978 (Ensembl) | |
CDK11A | GeneProduct | ENSG00000008128 (Ensembl) | |
CDK11B | GeneProduct | ENSG00000248333 (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 |
CFAP74 | GeneProduct | ENSG00000142609 (Ensembl) | |
COMMD1 | GeneProduct | ENSG00000173163 (Ensembl) | |
CPTP | GeneProduct | ENSG00000224051 (Ensembl) | |
CUL3 | GeneProduct | ||
Canonical NF-kB pathway | Pathway | WP4562 (WikiPathways) | |
Cell cycle | Pathway | WP844 (WikiPathways) | |
Chronic hyperglycemia impairment of neuron function | Pathway | WP5283 (WikiPathways) | |
Class I MHC mediated antigen processing and presentation | Pathway | WP2722 (WikiPathways) | |
Cytokinesis | Pathway | WP530 (WikiPathways) | |
DKK3 | GeneProduct | ENSG00000050165 (Ensembl) | |
DLST | GeneProduct | ENSG00000119689 (Ensembl) | |
DNA repair pathways | Pathway | WP4946 (WikiPathways) | |
DVL1 | GeneProduct | ENSG00000107404 (Ensembl) | |
Diacylglycerol | Metabolite | HMDB0242173 (HMDB) | |
E3 ubiquitin-protein ligase complex | GeneProduct | ||
ELAVL1 | GeneProduct | ||
ERRα-PGC/1α | Pathway | WP5318 (WikiPathways) | |
ESR1 | GeneProduct | ENSG00000091831 (Ensembl) | |
FAAP20 | GeneProduct | ENSG00000162585 (Ensembl) | |
FNDC10 | GeneProduct | ENSG00000228594 (Ensembl) | fibronectin type III domain containing 10 in membrane Predicted to be integral component of membrane. |
GABRD | GeneProduct | ENSG00000187730 (Ensembl) | |
GDE1 | GeneProduct | ENSG00000006007 (Ensembl) | |
GLUR6 | GeneProduct | ||
GNB1 | GeneProduct | ENSG00000078369 (Ensembl) | |
Glucogenesis | Pathway | WP534 (WikiPathways) | |
Glucose Import | Pathway | WP534 (WikiPathways) | |
HDAC p53/TP53 | GeneProduct | ||
HES4 | GeneProduct | ENSG00000188290 (Ensembl) | HES4 promotes inititiation of early T-cell development via notch signalling |
HSPA8 | GeneProduct | ENSG00000109971 (Ensembl) | |
IFIH1 | GeneProduct | ENSG00000115267 (Ensembl) | |
IFIT1 | GeneProduct | ENSG00000185745 (Ensembl) | |
IL-1 induced activation of NF-kB | Pathway | WP3656 (WikiPathways) | |
IL-1ß Synthesis | Pathway | R-HSA-448706 (Reactome) | |
IL-4 signaling pathway | Pathway | WP395 (WikiPathways) | |
INTS10 | GeneProduct | ENSG00000104613 (Ensembl) | |
INTS11 | GeneProduct | ENSG00000127054 (Ensembl) | |
INTS13 | GeneProduct | ENSG00000064102 (Ensembl) | |
INTS14 | GeneProduct | ENSG00000138614 (Ensembl) | |
INTS4 | GeneProduct | ENSG00000149262 (Ensembl) | |
INTS9 | GeneProduct | ENSG00000104299 (Ensembl) | |
IP3 | Metabolite | CHEBI:16595 (ChEBI) | |
ISG15 | GeneProduct | ENSG00000187608 (Ensembl) | Ubiquiting-like protein |
Insulin Receptor Signalling Pathway | Pathway | WP481 (WikiPathways) | |
KLHL17 | GeneProduct | ENSG00000187961 (Ensembl) | Promotes profileration + migration via the Ras + MAPK pathway |
KRT17 | GeneProduct | ENSG00000128422 (Ensembl) | |
LRP4 | GeneProduct | ENSG00000134569 (Ensembl) | |
MCM2 | GeneProduct | ENSG00000073111 (Ensembl) | |
MEPCE | GeneProduct | ENSG00000146834 (Ensembl) | |
METTL14 | GeneProduct | ENSG00000145388 (Ensembl) | |
MIB2 | GeneProduct | ENSG00000197530 (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." |
MIR200A | GeneProduct | ENSG00000207607 (Ensembl) | |
MIR200B | GeneProduct | ENSG00000207730 (Ensembl) | ncRNA (MiRNA) |
MIR429 | GeneProduct | ENSG00000198976 (Ensembl) | |
MMP23B | GeneProduct | ENSG00000189409 (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 " |
MORN1 | GeneProduct | ENSG00000116151 (Ensembl) | |
MRPL20 | GeneProduct | ENSG00000224870 (Ensembl) |
|
MUSK | GeneProduct | ENSG00000030304 (Ensembl) | |
MXRA8 | GeneProduct | ENSG00000162576 (Ensembl) | |
Matrix metalloproteinases | Pathway | WP129 (WikiPathways) | |
Mitochondrial translation | Pathway | WP3310 (WikiPathways) | |
Mitotic G2-G2/M phases | Pathway | WP1859 (WikiPathways) | |
NAD+ | Metabolite | CHEBI:15846 (ChEBI) | |
NADK | GeneProduct | ENSG00000008130 (Ensembl) | |
NADP+ | Metabolite | HMDB0304435 (HMDB) | |
NFkB activation via TRAF2/NIK | Pathway | WP3849 (WikiPathways) | |
NLRP3 Inflammasome | Pathway | R-HSA-844456 (Reactome) | |
NOC2L | GeneProduct | ENSG00000188976 (Ensembl) | NOC2L is an inhibitor of histone acetyltransferase (INHAT) |
NOTCH1/2/3 signaling | Pathway | WP2720 / WP2718 / WP2722 (WikiPathways) | |
Neuron Morphogenesis | Pathway | ||
OR4F16 | GeneProduct | ENSG00000284662 (Ensembl) | |
OR4F29 | GeneProduct | ENSG00000284733 (Ensembl) | RS:Chromosome 1:450,740-451,678 |
ORF4F5 | GeneProduct | ENSG00000186092 (Ensembl) | Chromosome 1: 65,419-71,585 |
Olfactory receptor activity | Pathway | WP3608 (WikiPathways) | |
PARD6B | GeneProduct | ENSG00000124171 (Ensembl) | |
PERM1 | GeneProduct | ENSG00000187642 (Ensembl) | Regulates energy metabolism via ERPa/PGC-1a |
PEX10 | GeneProduct | ||
PEX10 | GeneProduct | ENSG00000157911 (Ensembl) | |
PEX12 | GeneProduct | ||
PEX2 | GeneProduct | ||
PEX5 | GeneProduct | ENSG00000139197 (Ensembl) | |
PHKG2 | GeneProduct | ENSG00000156873 (Ensembl) | |
PI3K-Akt signaling pathway | Pathway | WP4172 (WikiPathways) | |
PI3K-Akt-mTOR-signaling | Pathway | WP3932 (WikiPathways) | |
PI3K-Akt | Pathway | WP4172 (WikiPathways) | |
PIP2 | Metabolite | Q3083814 (Wikidata) | |
PLCH2 | GeneProduct | ENSG00000149527 (Ensembl) | |
PLEKHN1 | GeneProduct | ENSG00000187583 (Ensembl) | Promote apoptosis via Bax-Bak |
PRKCZ | GeneProduct | ENSG00000067606 (Ensembl) | |
PUSL1 | GeneProduct | ENSG00000169972 (Ensembl) | |
Post-translational
protein phosphorylation | Pathway | WP4110 (WikiPathways) | |
Proinflammatory Gene Expression | Pathway | WP195 (WikiPathways) | |
RBX1 | GeneProduct | ||
RER1 | GeneProduct | ENSG00000157916 (Ensembl) | |
RNA polymerase II transcribes snRNA genes | Pathway | WP3827 (WikiPathways) | |
RNF223 | GeneProduct | ENSG00000237330 (Ensembl) | |
Regulation of IGF
transport and uptake by IGF binding proteins | Pathway | WP2799 (WikiPathways) | |
SAMD11 | GeneProduct | ENSG00000187634 (Ensembl) | |
SCNN1D | GeneProduct | ENSG00000162572 (Ensembl) | |
SDF4 | GeneProduct | ENSG00000078808 (Ensembl) | |
SKI | GeneProduct | ENSG00000157933 (Ensembl) | |
SLC35E2B | GeneProduct | SLC35E2B (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 |
SMAD2 | GeneProduct | SMAD2 (HGNC) | |
SMAD3 | GeneProduct | SMAD3 (HGNC) | |
SMAD4 | GeneProduct | SMAD4 (HGNC) | |
SSU72 | GeneProduct | ENSG00000160075 (Ensembl) | |
TAS1R3 | GeneProduct | ENSG00000169962 (Ensembl) | |
TGF-B signaling pathway | Pathway | WP366 (WikiPathways) | |
TGFB1 | GeneProduct | ENSG00000105329 (Ensembl) | |
TMEM240 | GeneProduct | ENSG00000228594 (Ensembl) |
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TMEM52 | GeneProduct | ENSG00000178821 (Ensembl) | |
TMEM88B | GeneProduct | ENSG00000205116 (Ensembl) | transmembrane protein 88B, Diseases associated with TMEM88B include Alexithymia. protein coding |
TNFRSF18 | GeneProduct | ENSG00000186891 (Ensembl) | |
TNFRSF4 | GeneProduct | ENSG00000186827 (Ensembl) | |
TNFSF18 | GeneProduct | ENSG00000120337 (Ensembl) | |
TNFSF4 | GeneProduct | ENSG00000117586 (Ensembl) | |
TRIM25 | GeneProduct | ENSG00000121060 (Ensembl) | |
UBE2J2 | GeneProduct | ENSG00000160087 (Ensembl) | |
UDP-galactose | Metabolite | ||
Ubiquitination | Pathway | WP3199 (WikiPathways) | |
Umami Taste Perception | Pathway | WP1397 (WikiPathways) | |
VEGF | Protein | A0A024RD37 (Uniprot-TrEMBL) | |
VTN | Protein | P04004 (Uniprot-TrEMBL) | |
VWA1 | GeneProduct | ENSG00000179403 (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 | Pathway | 19587085 (WikiPathways) | |
mRNA 3'-Processing | Pathway | R-HSA-72187 (Reactome) | |
miR-targeted genes | Pathway | WP2002 (WikiPathways) | |
miRNA 1302-2 | Rna | ENSG00000284332 (Ensembl) | Chromosome 1:30,366-30,503 |
miRNA 6859-1 | Rna | ENSG00000278267 (Ensembl) | RS:Chromosome 1:17,369-17,436 |
miRNA 6859-2 | Rna | ENSG00000273874 (Ensembl) | RS:Chromosome 1:187,891-187,958 |
p53/TP53 apoptosis | GeneProduct | ||
pre-RNA splicing | Pathway | ||
tRNA pseudouridine synthesis | Pathway | R-SCE-6790166 (Reactome) | |
ß3-linked galactose | Metabolite | ||
δ-Subunit of Epithelial Sodium Channel | GeneProduct | ENST00000379116.10 (Ensembl) |
Annotated Interactions
No annotated interactions