SHFM1

Gene Name		split hand/foot malformation (ectrodactyly) type 1
Image
Gene Ontology Annotations	Cellular Component	Proteasome Complex Integrator Complex
	Molecular Function	Protein Binding
	Biological Process	Double-strand Break Repair Via Homologous Recombination
Pathways
Drugs
Diseases
GWAS		Attention deficit hyperactivity disorder ( 20732625) Immunoglobulin A ( 20694011)
Protein-protein Interactions		7 interactors: BRCA1 BRCA2 MAP1LC3B NUDT21 PCID2 PSMD3 PSMD6
Entrez ID		7979
HPRD ID		03182
Ensembl ID
Uniprot IDs		P60896 Q6IBB7
PDB IDs		1IYJ 1MIU 1MJE 3T5X
Enriched GO Terms of Interacting Partners?		DNA Damage Response, Signal Transduction By P53 Class Mediator Positive Regulation Of Cell Cycle Signal Transduction In Response To DNA Damage Signal Transduction By P53 Class Mediator Regulation Of Cell Cycle Process Positive Regulation Of Cell Cycle Process Positive Regulation Of Cell Cycle Arrest Regulation Of Cell Cycle Regulation Of Cell Cycle Arrest Regulation Of Mitotic Cell Cycle DNA Damage Response, Signal Transduction By P53 Class Mediator Resulting In Transcription Of P21 Class Mediator DNA Damage Response, Signal Transduction Resulting In Transcription Positive Regulation Of Protein Ubiquitination DNA Damage Checkpoint Protein Polyubiquitination Cellular Response To Stress Regulation Of Protein Ubiquitination Cell Cycle Checkpoint Negative Regulation Of Cellular Protein Metabolic Process Cellular Response To DNA Damage Stimulus Negative Regulation Of Protein Metabolic Process Negative Regulation Of Apoptotic Process Negative Regulation Of Programmed Cell Death Apoptotic Process Negative Regulation Of Cell Death Negative Regulation Of Cellular Metabolic Process Centrosome Cycle Programmed Cell Death Negative Regulation Of Ubiquitin-protein Ligase Activity Involved In Mitotic Cell Cycle Cell Cycle Process DNA Damage Response, Signal Transduction By P53 Class Mediator Resulting In Cell Cycle Arrest Signal Transduction Involved In Mitotic G1 DNA Damage Checkpoint Cell Death Death Positive Regulation Of Ubiquitin-protein Ligase Activity Involved In Regulation Of Mitotic Cell Cycle Transition Signal Transduction Involved In DNA Damage Checkpoint Signal Transduction Involved In Cell Cycle Checkpoint Regulation Of Ubiquitin-protein Ligase Activity Involved In Mitotic Cell Cycle Regulation Of Cellular Amino Acid Metabolic Process Negative Regulation Of Ubiquitin-protein Transferase Activity Anaphase-promoting Complex-dependent Proteasomal Ubiquitin-dependent Protein Catabolic Process Mitotic G1 DNA Damage Checkpoint Positive Regulation Of Ubiquitin-protein Transferase Activity Mitotic G1/S Transition Checkpoint G1 DNA Damage Checkpoint Positive Regulation Of Ligase Activity Negative Regulation Of Cell Cycle Double-strand Break Repair Via Homologous Recombination Recombinational Repair Positive Regulation Of Protein Ubiquitination Involved In Ubiquitin-dependent Protein Catabolic Process
Tagcloud ?		10q24 17p13 cgh cnvs congenital deletions dlx5 duplications dync1i1 eexons encompassing enhancer enhancers exonic exons families foot fourth hearing hs1642 kb malformation microdeletions split syndromic telomeric tp63 unrelated