• Gene id: 144717

Gene Summary

• Gene Symbol: PHETA1   Gene   UCSC   Ensembl
• Aliases: FAM109A, IPIP27A, SES1
• Gene name: PH domain containing endocytic trafficking adaptor 1
• Alternate names: sesquipedalian-1, 27 kDa inositol polyphosphate phosphatase-interacting protein A, family with sequence similarity 109 member A, inositol polyphosphate phosphatase-interacting protein A, protein FAM109A,
• Gene location: 12q24.12 (128060654: 128222930)     Exons: 29     NC_000004.12
• Gene summary(Entrez): This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
• OMIM: 614239

Protein Summary

• Protein general information: Q8N4B1  
  • Name: Sesquipedalian 1 (Ses1) (27 kDa inositol polyphosphate phosphatase interacting protein A) (IPIP27A) (PH domain containing endocytic trafficking adaptor 1)
  • Length: 249  
  • Mass: 27215
• Sequence:

  MKLNERSLAFYATCDAPVDNAGFLYKKGGRHAAYHRRWFVLRGNMLFYFEDAASREPVGVIILEGCTVELVEAAE
  EFAFAVRFAGTRARTYVLAAESQDAMEGWVKALSRASFDYLRLVVRELEQQLAAVRGGGGMALPQPQPQSLPLPP
  SLPSALAPVPSLPSAPAPVPALPLPRRPSALPPKENGCAVWSTEATFRPGPEPPPPPPRRRASAPHGPLDMAPFA
  RLHECYGQEIRALRGQWLSSRVQP

• Structural information:
  • Protein Domains: (17..11-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • PDB: 3QIS
  • PDBsum: 3QIS
  • STRING: ENSP00000354461
• Other Databases: GeneCards:  PHETA1  Malacards:  PHETA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005769	early endosome	IBA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0001881	receptor recycling	IBA	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0007032	endosome organization	IBA	biological process
GO:0055037	recycling endosome	IBA	cellular component
GO:0042803	protein homodimerization activity	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:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0007032	endosome organization	IMP	biological process
GO:0001881	receptor recycling	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
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