• Gene id: 10006

Gene Summary

• Gene Symbol: ABI1   Gene   UCSC   Ensembl
• Aliases: ABI-1, ABLBP4, E3B1, NAP1BP, SSH3BP, SSH3BP1
• Gene name: abl interactor 1
• Alternate names: abl interactor 1, Abelson interactor 1, Abl-interactor protein 1 long, abl-binding protein 4, eps8 SH3 domain-binding protein, interactor protein AblBP4, nap1 binding protein, spectrin SH3 domain-binding protein 1,
• Gene location: 10p12.1 (26861086: 26746595)     Exons: 15     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interacti
• OMIM: 602813

Protein Summary

• Protein general information: Q8IZP0  
  • Name: Abl interactor 1 (Abelson interactor 1) (Abi 1) (Abl binding protein 4) (AblBP4) (Eps8 SH3 domain binding protein) (Eps8 binding protein) (Nap1 binding protein) (Nap1BP) (Spectrin SH3 domain binding protein 1) (e3B1)
  • Length: 508  
  • Mass: 55081
  • Tissue specificity: Widely expressed, with highest expression in brain. {ECO
• Sequence:

  MAELQMLLEEEIPSGKRALIESYQNLTRVADYCENNYIQATDKRKALEETKAYTTQSLASVAYQINALANNVLQL
  LDIQASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANMERPVRYIRKPIDYTVLDDVG
  HGVKWLKAKHGNNQPARTGTLSRTNPPTQKPPSPPMSGRGTLGRNTPYKTLEPVKPPTVPNDYMTSPARLGSQHS
  PGRTASLNQRPRTHSGSSGGSGSRENSGSSSIGIPIAVPTPSPPTIGPENISVPPPSGAPPAPPLAPLLPVSTVI
  AAPGSAPGSQYGTMTRQISRHNSTTSSTSSGGYRRTPSVTAQFSAQPHVNGGPLYSQNSISIAPPPPPMPQLTPQ
  IPLTGFVARVQENIADSPTPPPPPPPDDIPMFDDSPPPPPPPPVDYEDEEAAVVQYNDPYADGDPAWAPKNYIEK
  VVAIYDYTKDKDDELSFMEGAIIYVIKKNDDGWYEGVCNRVTGLFPGNYVESIMHYTD

• Structural information:
  • Protein Domains: (45..10-)
    homology (/note="t-SNARE-coiled-coil)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00202-)
    (446..50-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR028457  IPR028456  IPR035725  IPR012849  IPR036028   IPR001452  IPR000727  
  • Prosite: PS50002 PS50192
  • CDD: cd11971
  • DIP: 31118
  • STRING: ENSP00000365312
• Other Databases: GeneCards:  ABI1  Malacards:  ABI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0030027	lamellipodium	IBA	cellular component
GO:0008154	actin polymerization or depolymerization	IEA	biological process
GO:0030296	protein tyrosine kinase activator activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0008092	cytoskeletal protein binding	TAS	molecular function
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0030027	lamellipodium	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	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: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: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:0043005	neuron projection	IEA	cellular component
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0030296	protein tyrosine kinase activator activity	IEA	molecular function
GO:0031252	cell leading edge	IEA	cellular component
GO:0035855	megakaryocyte development	IEA	biological process
GO:0072673	lamellipodium morphogenesis	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0030175	filopodium	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016235	aggresome	IDA	cellular component
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0031209	SCAR complex	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0032433	filopodium tip	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0008154	actin polymerization or depolymerization	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray