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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	64844
Gene name	Membrane associated ring-CH-type finger 7
Gene symbol	MARCHF7
Synonyms (NCBI Gene)	AXOAXOTMARCH-VIIMARCH7RNF177
Chromosome	2
Chromosome location	2q24.2
Summary	MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002643	Process	Regulation of tolerance induction	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	29295817
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	25552655
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006513	Process	Protein monoubiquitination	IDA	24905733
GO:0008270	Function	Zinc ion binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	29295817
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IBA
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IPI	18410486
GO:0036064	Component	Ciliary basal body	IDA
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043130	Function	Ubiquitin binding	ISS
GO:0043518	Process	Negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP	29295817
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IMP	29295817
GO:0051865	Process	Protein autoubiquitination	IBA
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0051865	Process	Protein autoubiquitination	ISS
GO:0060271	Process	Cilium assembly	IDA	25552655
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	25552655
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	29295817
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	IMP	29295817
GO:1902018	Process	Negative regulation of cilium assembly	IDA	25552655
GO:1902166	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	29295817
GO:1902916	Process	Positive regulation of protein polyubiquitination	IMP	29295817
GO:1905524	Process	Negative regulation of protein autoubiquitination	IMP	29295817

MIM	HGNC	e!Ensembl
613334	17393	ENSG00000136536

Q9H992

Protein name

E3 ubiquitin-protein ligase MARCHF7 (EC 2.3.2.27) (Axotrophin) (Membrane-associated RING finger protein 7) (Membrane-associated RING-CH protein VII) (MARCH-VII) (RING finger protein 177) (RING-type E3 ubiquitin transferase MARCHF7)

Protein function

E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted sub

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12906	RINGv	552 → 607	RING-variant domain	Domain

Sequence

MESKPSRIPRRISVQPSSSLSARMMSGSRGSSLNDTYHSRDSSFRLDSEYQSTSASASAS
PFQSAWYSESEITQGARSRSQNQQRDHDSKRPKLSCTNCTTSAGRNVGNGLNTLSDSSWR
HSQVPRSSSMVLGSFGTDLMRERRDLERRTDSSISNLMDYSHRSGDFTTSSYVQDRVPSY
SQGARPKENSMSTLQLNTSSTNHQLPSEHQTILSSRDSRNSLRSNFSSRESESSRSNTQP
GFSYSSSRDEAPIISNSERVVSSQRPFQESSDNEGRRTTRRLLSRIASSMSSTFFSRRSS
QDSLNTRSLNSENSYVSPRILTASQSRSNVPSASEVPDNRASEASQGFRFLRRRWGLSSL
SHNHSSESDSENFNQESEGRNTGPWLSSSLRNRCTPLFSRRRREGRDESSRIPTSDTSSR
SHIFRRESNEVVHLEAQNDPLGAAANRPQASAASSSATTGGSTSDSAQGGRNTGISGILP
GSLFRFAVPPALGSNLTDNVMITVDIIPSGWNSADGKSDKTKSAPSRDPERLQKIKESLL
LEDSEEEEGDLCRICQMAAASSSNLLIEPCKCTGSLQYVHQDCMKKWLQAKINSGSSLEA
VTTCELCKEKLELNLEDFDIHELHRAHANEQAEYEFISSGLYLVVLLHLCEQSFSDMMGN
TNEPSTRVRFINLARTLQAHMEDLETSEDDSEEDGDHNRTFDIA

Sequence length

704

Interactions

View interactions

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 Unknown Diseases (3)

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.
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25895127, 27302477, 29794480, 30008934	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30008934	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30008934	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30824404	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	30568628	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31006800	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27302477	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	17161353	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28452132	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17161353	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31006800	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25895127, 29794480, 30008934	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30008934	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27302477, 31006800	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25895127, 29794480, 30008934	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30568628	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	30516667	★★★★★ ★☆☆☆☆ Found in Text Mining only

MARCHF7 (membrane associated ring-CH-type finger 7)