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ABI1 abl-interactor 1 [ Homo sapiens (human) ]

Gene ID: 10006, updated on 12-May-2015
Official Symbol
ABI1provided by HGNC
Official Full Name
abl-interactor 1provided by HGNC
Primary source
HGNC:HGNC:11320
See related
Ensembl:ENSG00000136754; HPRD:04336; MIM:603050; Vega:OTTHUMG00000017848
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E3B1; ABI-1; ABLBP4; NAP1BP; SSH3BP; SSH3BP1
Summary
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 interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
Orthologs
See ABI1 in MapViewer
Location:
10p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (26746596..26861087, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27035525..27150016, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376462 Neighboring gene prenyl (decaprenyl) diphosphate synthase, subunit 1 Neighboring gene heat shock 70kDa protein 8 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 202-1 Neighboring gene ankyrin repeat domain 26

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
actin polymerization or depolymerization NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
lamellipodium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
megakaryocyte development IEA
Inferred from Electronic Annotation
more info
 
movement of cell or subcellular component IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SCAR complex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
growth cone IEA
Inferred from Electronic Annotation
more info
 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
abl interactor 1
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030025.1 RefSeqGene

    Range
    5001..119492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012750.2NP_001012768.1  abl interactor 1 isoform b

    See identical proteins and their annotated locations for NP_001012768.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding exon, compared to variant 1. The resulting protein (isoform b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB040151, AF006516, AL390961, DB019974
    Consensus CDS
    CCDS31171.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Conserved Domains (2) summary
    cd11971
    Location:423481
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  2. NM_001012751.2NP_001012769.1  abl interactor 1 isoform c

    See identical proteins and their annotated locations for NP_001012769.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB040151, AL390961, DB019974
    Consensus CDS
    CCDS31170.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000365308, OTTHUMP00000019348, ENST00000376138, OTTHUMT00000047283
    Conserved Domains (2) summary
    cd11971
    Location:394452
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  3. NM_001012752.2NP_001012770.1  abl interactor 1 isoform d

    See identical proteins and their annotated locations for NP_001012770.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform d) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB040151, AL390961, BC024254, DB019974
    Consensus CDS
    CCDS31169.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000365309, OTTHUMP00000019355, ENST00000376139, OTTHUMT00000047291
    Conserved Domains (2) summary
    cd11971
    Location:418476
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93166
    Abi_HHR; Abl-interactor HHR
  4. NM_001178116.1NP_001171587.1  abl interactor 1 isoform e

    See identical proteins and their annotated locations for NP_001171587.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains one alternate exon and lacks a different in-frame coding exon, compared to variant 1. The resulting protein (isoform e) has the same N- and C-termini but is shorter when it is compared to isoform a.
    Source sequence(s)
    AK126803, AL390961, DB019974
    Consensus CDS
    CCDS53501.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000279599, ENST00000346832
    Conserved Domains (2) summary
    cd11971
    Location:438496
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:110188
    Abi_HHR; Abl-interactor HHR
  5. NM_001178119.1NP_001171590.1  abl interactor 1 isoform f

    See identical proteins and their annotated locations for NP_001171590.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame coding exon and uses a different splice site, compared to variant 1. The resulting protein (isoform f) has the same N- and C-termini but is shorter when it is compared to isoform a.
    Source sequence(s)
    AB040151, AF006516, AL390961, DB019974
    Consensus CDS
    CCDS53500.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000352114, OTTHUMP00000019354, ENST00000359188, OTTHUMT00000047289
    Conserved Domains (2) summary
    cd11971
    Location:422480
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  6. NM_001178120.1NP_001171591.1  abl interactor 1 isoform g

    See identical proteins and their annotated locations for NP_001171591.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two alternate in-frame coding exons and uses a different splice site, compared to variant 1. The resulting protein (isoform g) has the same N- and C-termini but is shorter when it is compared to isoform a.
    Source sequence(s)
    AB040151, AF001628, AL390961, DB019974
    Consensus CDS
    CCDS53499.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000365340, OTTHUMP00000019349, ENST00000376170, OTTHUMT00000047284
    Conserved Domains (2) summary
    cd11971
    Location:393451
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  7. NM_001178121.1NP_001171592.1  abl interactor 1 isoform h

    See identical proteins and their annotated locations for NP_001171592.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three alternate in-frame coding exons and uses a different splice site, compared to variant 1. The resulting protein (isoform h) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called the 'long' isoform.
    Source sequence(s)
    AB040151, AF260262, AK291823, AL390961, DB019974
    Consensus CDS
    CCDS53498.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000365336, OTTHUMP00000019350, ENST00000376166, OTTHUMT00000047285
    Conserved Domains (2) summary
    cd11971
    Location:388446
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93166
    Abi_HHR; Abl-interactor HHR
  8. NM_001178122.1NP_001171593.1  abl interactor 1 isoform i

    See identical proteins and their annotated locations for NP_001171593.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform i) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called 'variant 41'.
    Source sequence(s)
    AB040151, AL390961, DB019974, FJ380057
    Consensus CDS
    CCDS73078.1
    UniProtKB/TrEMBL
    B6VEX3
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000365307, ENST00000376137
    Conserved Domains (2) summary
    cd11971
    Location:364422
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  9. NM_001178123.1NP_001171594.1  abl interactor 1 isoform j

    See identical proteins and their annotated locations for NP_001171594.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks three alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform j) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called 'variant 21'.
    Source sequence(s)
    AB040151, AL390961, DB019974, FJ380058
    Consensus CDS
    CCDS73077.1
    UniProtKB/TrEMBL
    B6VEX4
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000439646, ENST00000536334
    Conserved Domains (2) summary
    cd11971
    Location:335393
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  10. NM_001178124.1NP_001171595.1  abl interactor 1 isoform k

    See identical proteins and their annotated locations for NP_001171595.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks three alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform k) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called 'variant 72'.
    Source sequence(s)
    AB040151, AL390961, DB019974, FJ380059
    UniProtKB/TrEMBL
    B6VEX5
    UniProtKB/Swiss-Prot
    Q8IZP0
    Conserved Domains (2) summary
    cd11971
    Location:330388
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93166
    Abi_HHR; Abl-interactor HHR
  11. NM_001178125.1NP_001171596.1  abl interactor 1 isoform l

    See identical proteins and their annotated locations for NP_001171596.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks five alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform l) has the same N- and C-termini but is shorter when it is compared to isoform a.
    Source sequence(s)
    AK298646, AL390961, DB019974
    Consensus CDS
    CCDS53497.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000440101, ENST00000490841
    Conserved Domains (1) summary
    cd11971
    Location:271329
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
  12. NM_005470.3NP_005461.2  abl interactor 1 isoform a

    See identical proteins and their annotated locations for NP_005461.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
    Source sequence(s)
    AB040151, AL390961, DB019974, U87166
    Consensus CDS
    CCDS7150.1
    UniProtKB/Swiss-Prot
    Q8IZP0
    Related
    ENSP00000365312, OTTHUMP00000019352, ENST00000376142, OTTHUMT00000047287
    Conserved Domains (2) summary
    cd11971
    Location:450508
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    26746596..26861087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717360.2XP_006717423.1  

    See identical proteins and their annotated locations for XP_006717423.1

    Conserved Domains (2) summary
    cd11971
    Location:421479
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  2. XM_005252333.3XP_005252390.1  

    See identical proteins and their annotated locations for XP_005252390.1

    UniProtKB/TrEMBL
    A0A0A0MRT6
    Related
    ENSP00000365330, OTTHUMP00000019351, ENST00000376160, OTTHUMT00000047286
    Conserved Domains (2) summary
    cd11971
    Location:417475
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93166
    Abi_HHR; Abl-interactor HHR
  3. XM_006717361.2XP_006717424.1  

    See identical proteins and their annotated locations for XP_006717424.1

    Conserved Domains (2) summary
    cd11971
    Location:389447
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93166
    Abi_HHR; Abl-interactor HHR
  4. XM_005252332.3XP_005252389.1  

    See identical proteins and their annotated locations for XP_005252389.1

    Conserved Domains (2) summary
    cd11971
    Location:445503
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93166
    Abi_HHR; Abl-interactor HHR
  5. XM_006717359.1XP_006717422.1  

    See identical proteins and their annotated locations for XP_006717422.1

    Conserved Domains (2) summary
    cd11971
    Location:449507
    SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR
  6. XM_011519289.1XP_011517591.1  

    Conserved Domains (1) summary
    pfam07815
    Location:93171
    Abi_HHR; Abl-interactor HHR

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    27032979..27149984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)