• Gene id: 55016

Gene Summary

• Gene Symbol: MARCHF1   Gene   UCSC   Ensembl
• Aliases: MARCH-I, MARCH1, RNF171
• Gene name: membrane associated ring-CH-type finger 1
• Alternate names: E3 ubiquitin-protein ligase MARCHF1, E3 ubiquitin-protein ligase MARCH1, RING finger protein 171, RING-type E3 ubiquitin transferase MARCH1, RING-type E3 ubiquitin transferase MARCHF1, membrane associated ring finger 1, membrane-associated RING finger protein 1,
• Gene location: 4q32.2-q32.3 (164384049: 163524297)     Exons: 12     NC_000004.12
• Gene summary(Entrez): MARCH1 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.
• OMIM: 141180

Protein Summary

• Protein general information: Q8TCQ1  
  • Name: E3 ubiquitin protein ligase MARCHF1 (EC 2.3.2.27) (Membrane associated RING finger protein 1) (Membrane associated RING CH protein I) (MARCH I) (RING finger protein 171) (RING type E3 ubiquitin transferase MARCHF1)
  • Length: 289  
  • Mass: 32308
  • Tissue specificity: Expressed in antigen presenting cells, APCs, located in lymph nodes and spleen. Also expressed in lung. Expression is high in follicular B-cells, moderate in dendritic cells and low in splenic T-cells. {ECO
• Sequence:

  MLGWCEAIARNPHRIPNNTRTPEISGDLADASQTSTLNEKSPGRSASRSSNISKASSPTTGTAPRSQSRLSVCPS
  TQDICRICHCEGDEESPLITPCRCTGTLRFVHQSCLHQWIKSSDTRCCELCKYDFIMETKLKPLRKWEKLQMTTS
  ERRKIFCSVTFHVIAITCVVWSLYVLIDRTAEEIKQGNDNGVLEWPFWTKLVVVAIGFTGGLVFMYVQCKVYVQL
  WRRLKAYNRVIFVQNCPDTAKKLEKNFSCNVNTDIKDAVVVPVPQTGANSLPSAEGGPPEVVSV

• Structural information:
  • Interpro: IPR011016  IPR013083  
  • Prosite: PS51292
  • STRING: ENSP00000427223
• Other Databases: GeneCards:  MARCHF1  Malacards:  MARCHF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitination	IMP	biological process
GO:0005764	lysosome	IBA	cellular component
GO:0031901	early endosome membrane	IBA	cellular component
GO:0031902	late endosome membrane	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0002495	antigen processing and presentation of peptide antigen via MHC class II	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006955	immune response	IBA	biological process
GO:0042287	MHC protein binding	IBA	molecular function
GO:0032588	trans-Golgi network membrane	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0032588	trans-Golgi network membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006955	immune response	IEA	biological process
GO:0002495	antigen processing and presentation of peptide antigen via MHC class II	IEA	biological process
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0031902	late endosome membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0042287	MHC protein binding	IDA	molecular function
GO:0006955	immune response	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002495	antigen processing and presentation of peptide antigen via MHC class II	IDA	biological process
GO:0006955	immune response	IDA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0031902	late endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray