• Gene id: 30845

Gene Summary

• Gene Symbol: EHD3   Gene   UCSC   Ensembl
• Aliases: PAST3
• Gene name: EH domain containing 3
• Alternate names: EH domain-containing protein 3, PAST homolog 3,
• Gene location: 2p23.1 (31234151: 31269450)     Exons: 7     NC_000002.12
• OMIM: 616174

Protein Summary

• Protein general information: Q9NZN3  
  • Name: EH domain containing protein 3 (PAST homolog 3)
  • Length: 535  
  • Mass: 60887
  • Tissue specificity: Highly expressed in heart and brain and moderately expressed in kidney, liver, and placenta. {ECO
• Sequence:

  MFSWLGTDDRRRKDPEVFQTVSEGLKKLYKSKLLPLEEHYRFHEFHSPALEDADFDNKPMVLLVGQYSTGKTTFI
  RYLLEQDFPGMRIGPEPTTDSFIAVMQGDMEGIIPGNALVVDPKKPFRKLNAFGNAFLNRFVCAQLPNPVLESIS
  VIDTPGILSGEKQRISRGYDFAAVLEWFAERVDRIILLFDAHKLDISDEFSEVIKALKNHEDKMRVVLNKADQIE
  TQQLMRVYGALMWSLGKIVNTPEVIRVYIGSFWSHPLLIPDNRKLFEAEEQDLFRDIQSLPRNAALRKLNDLIKR
  ARLAKVHAYIISSLKKEMPSVFGKDNKKKELVNNLAEIYGRIEREHQISPGDFPNLKRMQDQLQAQDFSKFQPLK
  SKLLEVVDDMLAHDIAQLMVLVRQEESQRPIQMVKGGAFEGTLHGPFGHGYGEGAGEGIDDAEWVVARDKPMYDE
  IFYTLSPVDGKITGANAKKEMVRSKLPNSVLGKIWKLADIDKDGMLDDDEFALANHLIKVKLEGHELPNELPAHL
  LPPSKRKVAE

• Structural information:
  • Protein Domains: (55..28-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055-)
    (444..53-)
    (/note="EH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (476..51-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR040990  IPR022812  IPR011992  IPR018247  IPR002048   IPR000261  IPR029951  IPR031692  IPR030381  IPR027417  
  • Prosite: PS00018 PS50222 PS50031 PS51718
  • CDD: cd00052
  • STRING: ENSP00000327116
• Other Databases: GeneCards:  EHD3  Malacards:  EHD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032456	endocytic recycling	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0055038	recycling endosome membrane	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0030139	endocytic vesicle	IBA	cellular component
GO:0020018	ciliary pocket membrane	IDA	cellular component
GO:0001881	receptor recycling	IMP	biological process
GO:0034498	early endosome to Golgi transport	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:1903358	regulation of Golgi organization	IMP	biological process
GO:0090160	Golgi to lysosome transport	IMP	biological process
GO:0051260	protein homooligomerization	IPI	biological process
GO:0005737	cytoplasm	ISS	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:0005509	calcium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0032456	endocytic recycling	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003676	nucleic acid binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0072659	protein localization to plasma membrane	IGI	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	IGI	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	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: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:1903779	regulation of cardiac conduction	IEA	biological process
GO:1901387	positive regulation of voltage-gated calcium channel activity	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0055117	regulation of cardiac muscle contraction	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0086036	regulation of cardiac muscle cell membrane potential	IEA	biological process
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0055038	recycling endosome membrane	IDA	cellular component
GO:0032456	endocytic recycling	IDA	biological process
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881