Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64682
Gene name	Anaphase promoting complex subunit 1
Gene symbol	ANAPC1
Synonyms (NCBI Gene)	APC1MCPRTSG24
Chromosome	2
Chromosome location	2q13
Summary	This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [pr

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs999743155	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Intron variant
rs1267333057	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs1573318834	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1573454278	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001653	hsa-let-7b-5p	pSILAC	18668040
MIRT029746	hsa-miR-26b-5p	Microarray	19088304
MIRT001653	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT048538	hsa-miR-100-5p	CLASH	23622248
MIRT042122	hsa-miR-484	CLASH	23622248
MIRT041534	hsa-miR-193b-3p	CLASH	23622248
MIRT037555	hsa-miR-744-5p	CLASH	23622248
MIRT718046	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT660696	hsa-miR-1266-3p	HITS-CLIP	19536157
MIRT660695	hsa-miR-1237-3p	HITS-CLIP	19536157
MIRT660694	hsa-miR-1248	HITS-CLIP	19536157
MIRT660693	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT660692	hsa-miR-1976	HITS-CLIP	19536157
MIRT660689	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT660688	hsa-miR-4279	HITS-CLIP	19536157
MIRT660696	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT660695	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT660694	hsa-miR-1248	HITS-CLIP	23824327
MIRT660693	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT660692	hsa-miR-1976	HITS-CLIP	23824327
MIRT660691	hsa-miR-3616-3p	HITS-CLIP	23824327
MIRT660690	hsa-miR-4721	HITS-CLIP	23824327
MIRT660689	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT660688	hsa-miR-4279	HITS-CLIP	23824327
MIRT660687	hsa-miR-1226-5p	HITS-CLIP	23824327
MIRT660686	hsa-miR-4477b	HITS-CLIP	23824327
MIRT660685	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT446562	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT446561	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT446560	hsa-miR-4452	PAR-CLIP	22100165
MIRT001653	hsa-let-7b-5p	MicroarrayqRT-PCRWestern blot	26540468
MIRT718046	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT660696	hsa-miR-1266-3p	HITS-CLIP	19536157
MIRT660695	hsa-miR-1237-3p	HITS-CLIP	19536157
MIRT660694	hsa-miR-1248	HITS-CLIP	19536157
MIRT660693	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT660692	hsa-miR-1976	HITS-CLIP	19536157
MIRT660689	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT660688	hsa-miR-4279	HITS-CLIP	19536157
MIRT660696	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT660695	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT660694	hsa-miR-1248	HITS-CLIP	23824327
MIRT660693	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT660692	hsa-miR-1976	HITS-CLIP	23824327
MIRT660691	hsa-miR-3616-3p	HITS-CLIP	23824327
MIRT660690	hsa-miR-4721	HITS-CLIP	23824327
MIRT660689	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT660688	hsa-miR-4279	HITS-CLIP	23824327
MIRT660687	hsa-miR-1226-5p	HITS-CLIP	23824327
MIRT660686	hsa-miR-4477b	HITS-CLIP	23824327
MIRT660685	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT446562	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT446561	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT446560	hsa-miR-4452	PAR-CLIP	22100165
MIRT780762	hsa-miR-1272	CLIP-seq
MIRT780763	hsa-miR-1301	CLIP-seq
MIRT780764	hsa-miR-133a	CLIP-seq
MIRT780765	hsa-miR-133b	CLIP-seq
MIRT780766	hsa-miR-2113	CLIP-seq
MIRT780767	hsa-miR-224	CLIP-seq
MIRT780768	hsa-miR-2277-3p	CLIP-seq
MIRT780769	hsa-miR-298	CLIP-seq
MIRT780770	hsa-miR-3120-3p	CLIP-seq
MIRT780771	hsa-miR-3127-5p	CLIP-seq
MIRT780772	hsa-miR-3679-3p	CLIP-seq
MIRT780773	hsa-miR-3944-5p	CLIP-seq
MIRT780774	hsa-miR-4464	CLIP-seq
MIRT780775	hsa-miR-4660	CLIP-seq
MIRT780776	hsa-miR-4748	CLIP-seq
MIRT780777	hsa-miR-5047	CLIP-seq
MIRT780778	hsa-miR-569	CLIP-seq
MIRT780762	hsa-miR-1272	CLIP-seq
MIRT780763	hsa-miR-1301	CLIP-seq
MIRT780766	hsa-miR-2113	CLIP-seq
MIRT780768	hsa-miR-2277-3p	CLIP-seq
MIRT780770	hsa-miR-3120-3p	CLIP-seq
MIRT780773	hsa-miR-3944-5p	CLIP-seq
MIRT780775	hsa-miR-4660	CLIP-seq
MIRT780777	hsa-miR-5047	CLIP-seq
MIRT780778	hsa-miR-569	CLIP-seq
MIRT780778	hsa-miR-569	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005680	Component	Anaphase-promoting complex	IBA
GO:0005680	Component	Anaphase-promoting complex	IDA	16364912
GO:0005680	Component	Anaphase-promoting complex	IEA
GO:0005680	Component	Anaphase-promoting complex	IPI	27120157
GO:0005680	Component	Anaphase-promoting complex	NAS	27120157
GO:0005829	Component	Cytosol	TAS
GO:0007091	Process	Metaphase/anaphase transition of mitotic cell cycle	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	NAS	15678131
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	IBA
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	IDA	29033132
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	NAS	15678131
GO:0051301	Process	Cell division	IEA
GO:0051445	Process	Regulation of meiotic cell cycle	NAS	15678131
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	29033132
GO:0070979	Process	Protein K11-linked ubiquitination	IBA
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	18485873, 29033132
GO:0141198	Process	Protein branched polyubiquitination	IDA	29033132

MIM	HGNC	e!Ensembl
608473	19988	ENSG00000153107

Q9H1A4

Protein name

Anaphase-promoting complex subunit 1 (APC1) (Cyclosome subunit 1) (Mitotic checkpoint regulator) (Testis-specific gene 24 protein)

Protein function

Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle (PubMed:18485873). The APC/C complex acts by mediating ubiquit

PDB

4UI9 , 5A31 , 5G04 , 5G05 , 5KHR , 5KHU , 5L9T , 5L9U , 5LCW , 5LGG , 6Q6G , 6Q6H , 6TLJ , 6TM5 , 6TNT , 8PKP , 8TAR , 8TAU , 9GAW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12859	ANAPC1	150 → 207	Anaphase-promoting complex subunit 1	Family
PF18122	APC1_C	1736 → 1895	Anaphase-promoting complex sub unit 1 C-terminal domain	Domain

Sequence

MSNFYEERTTMIAARDLQEFVPFGRDHCKHHPNALNLQLRQLQPASELWSSDGAAGLVGS
LQEVTIHEKQKESWQLRKGVSEIGEDVDYDEELYVAGNMVIWSKGSKSQALAVYKAFTVD
SPVQQALWCDFIISQDKSEKAYSSNEVEKCICILQSSCINMHSIEGKDYIASLPFQVANV
WPTKYGLLFERSASSHEVPPGSPREPLPTMFSMLHPLDEITPLVCKSGSLFGSSRVQYVV
DHAMKIVFLNTDPSIVMTYDAVQNVHSVWTLRRVKSEEENVVLKFSEQGGTPQNVATSSS
LTAHLRSLSKGDSPVTSPFQNYSSIHSQSRSTSSPSLHSRSPSISNMAALSRAHSPALGV
HSFSGVQRFNISSHNQSPKRHSISHSPNSNSNGSFLAPETEPIVPELCIDHLWTETITNI
REKNSQASKVFITSDLCGQKFLCFLVESQLQLRCVKFQESNDKTQLIFGSVTNIPAKDAA
PVEKIDTMLVLEGSGNLVLYTGVVRVGKVFIPGLPAPSLTMSNTMPRPSTPLDGVSTPKP
LSKLLGSLDEVVLLSPVPELRDSSKLHDSLYNEDCTFQQLGTYIHSIRDPVHNRVTLELS
NGSMVRITIPEIATSELVQTCLQAIKFILPKEIAVQMLVKWYNVHSAPGGPSYHSEWNLF
VTCLMNMMGYNTDRLAWTRNFDFEGSLSPVIAPKKARPSETGSDDDWEYLLNSDYHQNVE
SHLLNRSLCLSPSEASQMKDEDFSQNLSLDSSTLLFTHIPAIFFVLHLVYEELKLNTLMG
EGICSLVELLVQLARDLKLGPYVDHYYRDYPTLVRTTGQVCTIDPGQTGFMHHPSFFTSE
PPSIYQWVSSCLKGEGMPPYPYLPGICERSRLVVLSIALYILGDESLVSDESSQYLTRIT
IAPQKLQVEQEENRFSFRHSTSVSSLAERLVVWMTNVGFTLRDLETLPFGIALPIRDAIY
HCREQPASDWPEAVCLLIGRQDLSKQACEGNLPKGKSVLSSDVPSGTETEEEDDGMNDMN
HEVMSLIWSEDLRVQDVRRLLQSAHPVRVNVVQYPELSDHEFIEEKENRLLQLCQRTMAL
PVGRGMFTLFSYHPVPTEPLPIPKLNLTGRAPPRNTTVDLNSGNIDVPPNMTSWASFHNG
VAAGLKIAPASQIDSAWIVYNKPKHAELANEYAGFLMALGLNGHLTKLATLNIHDYLTKG
HEMTSIGLLLGVSAAKLGTMDMSITRLLSIHIPALLPPTSTELDVPHNVQVAAVVGIGLV
YQGTAHRHTAEVLLAEIGRPPGPEMEYCTDRESYSLAAGLALGMVCLGHGSNLIGMSDLN
VPEQLYQYMVGGHRRFQTGMHREKHKSPSYQIKEGDTINVDVTCPGATLALAMIYLKTNN
RSIADWLRAPDTMYLLDFVKPEFLLLRTLARCLILWDDILPNSKWVDSNVPQIIRENSIS
LSEIELPCSEDLNLETLSQAHVYIIAGACLSLGFRFAGSENLSAFNCLHKFAKDFMTYLS
APNASVTGPHNLETCLSVVLLSLAMVMAGSGNLKVLQLCRFLHMKTGGEMNYGFHLAHHM
ALGLLFLGGGRYSLSTSNSSIAALLCALYPHFPAHSTDNRYHLQALRHLYVLAAEPRLLV
PVDVDTNTPCYALLEVTYKGTQWYEQTKEELMAPTLLPELHLLKQIKVKGPRYWELLIDL
SKGTQHLKSILSKDGVLYVKLRAGQLSYKEDPMGWQSLLAQTVANRNSEARAFKPETISA
FTSDPALLSFAEYFCKPTVNMGQKQEILDLFSSVLYECVTQETPEMLPAYIAMDQAIRRL
GRREMSETSELWQIKLVLEFFSSRSHQERLQNHPKRGLFMNSEFLPVVKCTIDNTLDQWL
QVGGDMCVHAYLSGQPLEESQLSMLACFLVYHSVPAPQHLPPIGLEGSTSFAELLFKFKQ
LKMPVRALLRLAPLLLGNPQPMVM

Sequence length

1944

Interactions

View interactions

	KEGG		Reactome
	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis Progesterone-mediated oocyte maturation Human T-cell leukemia virus 1 infection		Inactivation of APC/C via direct inhibition of the APC/C complex APC/C:Cdc20 mediated degradation of Cyclin B Autodegradation of Cdh1 by Cdh1:APC/C APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase Regulation of APC/C activators between G1/S and early anaphase APC/C:Cdc20 mediated degradation of mitotic proteins Phosphorylation of the APC/C APC-Cdc20 mediated degradation of Nek2A Separation of Sister Chromatids Senescence-Associated Secretory Phenotype (SASP) CDK-mediated phosphorylation and removal of Cdc6 Transcriptional Regulation by VENTX Antigen processing: Ubiquitination & Proteasome degradation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Rothmund-Thomson syndrome type 1	Likely pathogenic; Pathogenic	rs999743155, rs1573454278, rs1267333057	RCV000853402 RCV000853403 RCV000853404	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND THOMSON SYNDROME TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME, TYPE 1	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	30511962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37629076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	37629076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18535175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30511962, 30746785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	30894546, 31246245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30894546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	31246245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17934339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18622497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37629076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37629076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome type 1	Rothmund-Thomson Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18622497		★★★★★ ★☆☆☆☆ Found in Text Mining only

ANAPC1 (anaphase promoting complex subunit 1)