• Gene id: 30844

Gene Summary

• Gene Symbol: EHD4   Gene   UCSC   Ensembl
• Aliases: PAST4
• Gene name: EH domain containing 4
• Alternate names: EH domain-containing protein 4, PAST homolog 4, hepatocellular carcinoma-associated protein 10/11, hepatocellular carcinoma-associated protein HCA11, ortholog of rat pincher,
• Gene location: 15q15.1 (41972556: 41895932)     Exons: 6     NC_000015.10
• OMIM: 605892

Protein Summary

• Protein general information: Q9H223  
  • Name: EH domain containing protein 4 (Hepatocellular carcinoma associated protein 10/11) (PAST homolog 4)
  • Length: 541  
  • Mass: 61175
  • Tissue specificity: Highly expressed in pancreas and heart. {ECO
• Sequence:

  MFSWMGRQAGGRERAGGADAVQTVTGGLRSLYLRKVLPLEEAYRFHEFHSPALEDADFENKPMILLVGQYSTGKT
  TFIRYLLEQDFPGMRIGPEPTTDSFIAVMYGETEGSTPGNALVVDPKKPFRKLSRFGNAFLNRFMCSQLPNQVLK
  SISVIDSPGILSGEKQRISRGYDFCQVLQWFAERVDRIILLFDAHKLDISDEFSEAIKAFRGQDDKIRVVLNKAD
  QVDTQQLMRVYGALMWSLGKVINTPEVLRVYIGSFWAQPLQNTDNRRLFEAEAQDLFRDIQSLPQKAAVRKLNDL
  IKRARLAKVHAYIISYLKKEMPSVFGKENKKRELISRLPEIYIQLQREYQISAGDFPEVKAMQEQLENYDFTKFH
  SLKPKLIEAVDNMLSNKISPLMNLISQEETSTPTQLVQGGAFDGTTEGPFNQGYGEGAKEGADEEEWVVAKDKPV
  YDELFYTLSPINGKISGVNAKKEMVTSKLPNSVLGKIWKLADCDCDGMLDEEEFALAKHLIKIKLDGYELPSSLP
  PHLVPPSHRKSLPKAD

• Structural information:
  • Protein Domains: (58..28-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055-)
    (447..53-)
    (/note="EH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (479..51-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR040990  IPR022812  IPR011992  IPR018247  IPR002048   IPR000261  IPR029952  IPR031692  IPR030381  IPR027417  
  • Prosite: PS00018 PS50222 PS50031 PS51718
  • CDD: cd00052
  • STRING: ENSP00000220325
• Other Databases: GeneCards:  EHD4  Malacards:  EHD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0055038	recycling endosome membrane	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0032456	endocytic recycling	IBA	biological process
GO:0030139	endocytic vesicle	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0051260	protein homooligomerization	IPI	biological process
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:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
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:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006907	pinocytosis	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0032456	endocytic recycling	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

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)