• Gene id: 23677

Gene Summary

• Gene Symbol: SH3BP4   Gene   UCSC   Ensembl
• Aliases: BOG25, TTP
• Gene name: SH3 domain binding protein 4
• Alternate names: SH3 domain-binding protein 4, EH-binding protein 10, transferrin receptor-trafficking protein,
• Gene location: 2q37.2 (108515276: 108521209)     Exons: 3     NC_000012.12
• Gene summary(Entrez): This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, speci
• OMIM: 605611

Protein Summary

• Protein general information: Q9P0V3  
  • Name: SH3 domain binding protein 4 (EH binding protein 10) (Transferrin receptor trafficking protein)
  • Length: 963  
  • Mass: 107496
  • Tissue specificity: Expressed in all tissues tested with higher expression in pancreas. Expressed by retinal pigment epithelial cells (at protein level). {ECO
• Sequence:

  MAAQRIRAANSNGLPRCKSEGTLIDLSEGFSETSFNDIKVPSPSALLVDNPTPFGNAKEVIAIKDYCPTNFTTLK
  FSKGDHLYVLDTSGGEWWYAHNTTEMGYIPSSYVQPLNYRNSTLSDSGMIDNLPDSPDEVAKELELLGGWTDDKK
  VPGRMYSNNPFWNGVQTNPFLNGNVPVMPSLDELNPKSTVDLLLFDAGTSSFTESSSATTNSTGNIFDELPVTNG
  LHAEPPVRRDNPFFRSKRSYSLSELSVLQAKSDAPTSSSFFTGLKSPAPEQFQSREDFRTAWLNHRKLARSCHDL
  DLLGQSPGWGQTQAVETNIVCKLDSSGGAVQLPDTSISIHVPEGHVAPGETQQISMKALLDPPLELNSDRSCSIS
  PVLEVKLSNLEVKTSIILEMKVSAEIKNDLFSKSTVGLQCLRSDSKEGPYVSVPLNCSCGDTVQAQLHNLEPCMY
  VAVVAHGPSILYPSTVWDFINKKVTVGLYGPKHIHPSFKTVVTIFGHDCAPKTLLVSEVTRQAPNPAPVALQLWG
  KHQFVLSRPQDLKVCMFSNMTNYEVKASEQAKVVRGFQLKLGKVSRLIFPITSQNPNELSDFTLRVQVKDDQEAI
  LTQFCVQTPQPPPKSAIKPSGQRRFLKKNEVGKIILSPFATTTKYPTFQDRPVSSLKFGKLLKTVVRQNKNHYLL
  EYKKGDGIALLSEERVRLRGQLWTKEWYIGYYQGRVGLVHTKNVLVVGRARPSLCSGPELSTSVLLEQILRPCKF
  LTYIYASVRTLLMENISSWRSFADALGYVNLPLTFFCRAELDSEPERVASVLEKLKEDCNNTENKERKSFQKELV
  MALLKMDCQGLVVRLIQDFVLLTTAVEVAQRWRELAEKLAKVSKQQMDAYESPHRDRNGVVDSEAMWKPAYDFLL
  TWSHQIGDSYRDVIQELHLGLDKMKNPITKRWKHLTGTLILVNSLDVLRAAAFSPADQDDFVI

• Structural information:
  • Protein Domains: (55..11-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (317..45-)
    (/note="ZU5-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (654..72-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR036028  IPR001452  IPR035455  IPR035456  IPR000906  
  • Prosite: PS50002 PS51145
  • CDD: cd11757
  • STRING: ENSP00000386862
• Other Databases: GeneCards:  SH3BP4  Malacards:  SH3BP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0034260	negative regulation of GTPase activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0071230	cellular response to amino acid stimulus	IMP	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0017016	Ras GTPase binding	IPI	molecular function
GO:0017016	Ras GTPase binding	IPI	molecular function
GO:0017016	Ras GTPase binding	IPI	molecular function
GO:0017016	Ras GTPase binding	IPI	molecular function
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061462	protein localization to lysosome	IMP	biological process
GO:0050790	regulation of catalytic activity	IMP	biological process
GO:0043090	amino acid import	IMP	NOT|biological process
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0010508	positive regulation of autophagy	IMP	biological process
GO:0005092	GDP-dissociation inhibitor activity	IMP	molecular function
GO:0017016	Ras GTPase binding	IEA	molecular function
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0042802	identical 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:0005905	clathrin-coated pit	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq