• Gene id: 27236

Gene Summary

• Gene Symbol: ARFIP1   Gene   UCSC   Ensembl
• Aliases: HSU52521
• Gene name: ADP ribosylation factor interacting protein 1
• Alternate names: arfaptin-1,
• Gene location: 4q31.3 (152779936: 152912356)     Exons: 13     NC_000004.12
• OMIM: 605928

Protein Summary

• Protein general information: P53367  
  • Name: Arfaptin 1 (ADP ribosylation factor interacting protein 1)
  • Length: 373  
  • Mass: 41738
  • Tissue specificity: Ubiquitously expressed. Higher levels in liver, pancreas, placenta, skeletal muscle and heart.
• Sequence:

  MAQESPKNSAAEIPVTSNGEVDDSREHSFNRDLKHSLPSGLGLSETQITSHGFDNTKEGVIEAGAFQGSPAPPLP
  SVMSPSRVAASRLAQQGSDLIVPAGGQRTQTKSGPVILADEIKNPAMEKLELVRKWSLNTYKCTRQIISEKLGRG
  SRTVDLELEAQIDILRDNKKKYENILKLAQTLSTQLFQMVHTQRQLGDAFADLSLKSLELHEEFGYNADTQKLLA
  KNGETLLGAINFFIASVNTLVNKTIEDTLMTVKQYESARIEYDAYRTDLEELNLGPRDANTLPKIEQSQHLFQAH
  KEKYDKMRNDVSVKLKFLEENKVKVLHNQLVLFHNAIAAYFAGNQKQLEQTLKQFHIKLKTPGVDAPSWLEEQ

• Structural information:
  • Protein Domains: (153..35-)
    (/note="AH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00294"-)
  • Interpro: IPR027267  IPR010504  IPR030793  IPR030798  
  • Prosite: PS50870
  • STRING: ENSP00000395083
• Other Databases: GeneCards:  ARFIP1  Malacards:  ARFIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905280	negative regulation of retrograde transport, endosome to Golgi	IMP	biological process
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0032588	trans-Golgi network membrane	IBA	cellular component
GO:0034315	regulation of Arp2/3 complex-mediated actin nucleation	IBA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0032588	trans-Golgi network membrane	IEA	cellular component
GO:0070273	phosphatidylinositol-4-phosphate binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0050708	regulation of protein secretion	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0050708	regulation of protein secretion	IDA	biological process
GO:0006886	intracellular protein transport	IDA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray