• Gene id: 81609

Gene Summary

• Gene Symbol: SNX27   Gene   UCSC   Ensembl
• Aliases: MRT1, MY014
• Gene name: sorting nexin 27
• Alternate names: sorting nexin-27, methamphetamine-responsive transcript 1, sorting nexin family member 27,
• Gene location: 1q21.3 (151612026: 151699079)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein fa
• OMIM: 611541

Protein Summary

• Protein general information: Q96L92  
  • Name: Sorting nexin 27
  • Length: 541  
  • Mass: 61265
  • Tissue specificity: Widely expressed. Expressed in cells of hematopoietic origin (at protein level). {ECO
• Sequence:

  MADEDGEGIHPSAPHRNGGGGGGGGSGLHCAGNGGGGGGGPRVVRIVKSESGYGFNVRGQVSEGGQLRSINGELY
  APLQHVSAVLPGGAADRAGVRKGDRILEVNHVNVEGATHKQVVDLIRAGEKELILTVLSVPPHEADNLDPSDDSL
  GQSFYDYTEKQAVPISVPRYKHVEQNGEKFVVYNVYMAGRQLCSKRYREFAILHQNLKREFANFTFPRLPGKWPF
  SLSEQQLDARRRGLEEYLEKVCSIRVIGESDIMQEFLSESDENYNGVSDVELRVALPDGTTVTVRVKKNSTTDQV
  YQAIAAKVGMDSTTVNYFALFEVISHSFVRKLAPNEFPHKLYIQNYTSAVPGTCLTIRKWLFTTEEEILLNDNDL
  AVTYFFHQAVDDVKKGYIKAEEKSYQLQKLYEQRKMVMYLNMLRTCEGYNEIIFPHCACDSRRKGHVITAISITH
  FKLHACTEEGQLENQVIAFEWDEMQRWDTDEEGMAFCFEYARGEKKPRWVKIFTPYFNYMHECFERVFCELKWRK
  ENIFQMARSQQRDVAT

• Structural information:
  • Protein Domains: (43..13-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (161..26-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (273..36-)
    (/note="Ras-associating-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00166"-)
  • Interpro: IPR001478  IPR041489  IPR036034  IPR001683  IPR036871   IPR000159  IPR037831  IPR028667  IPR037827  IPR037833  IPR029071  
  • Prosite: PS50106 PS50195 PS50200
  • CDD: cd13338 cd06886
  • PDB: 4HAS 5ZN9 6SAK
  • PDBsum: 4HAS 5ZN9 6SAK
  • STRING: ENSP00000357836
• Other Databases: GeneCards:  SNX27  Malacards:  SNX27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IC	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1990126	retrograde transport, endosome to plasma membrane	IBA	biological process
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0071203	WASH complex	IDA	colocalizes with
GO:0071203	WASH complex	IDA	colocalizes with
GO:0001772	immunological synapse	IDA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0030904	retromer complex	IDA	colocalizes with
GO:0005769	early endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:0016197	endosomal transport	IMP	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0006886	intracellular protein transport	IMP	biological process
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:0001770	establishment of natural killer cell polarity	TAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0016197	endosomal transport	IEA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016197	endosomal transport	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0008333	endosome to lysosome transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)