• Gene id: 320

Gene Summary

• Gene Symbol: APBA1   Gene   UCSC   Ensembl
• Aliases: D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA
• Gene name: amyloid beta precursor protein binding family A member 1
• Alternate names: amyloid-beta A4 precursor protein-binding family A member 1, adapter protein X11alpha, adaptor protein X11alpha, amyloid beta (A4) precursor protein-binding, family A, member 1 (X11), mint-1, neuron-specific X11 protein, neuronal munc18-1-interacting protein 1, ,
• Gene location: 9q21.12 (69673011: 69427531)     Exons: 15     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments in
• OMIM: 602468

SNPs

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs6461992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27181212A>G
NC_000007.14   g.27181212A>T
NC_000007.13   g.27220831A>G
NC_000007.13   g.27220831A>T
NG_012079.1   g.9005T>C
NG_012079.1   g.9005T>A
NM_005523.6   c.*1584T>C
NM_005523.6   c.*1584T>A
NM_005523.5   c.*1584T>C
NM_005523.5   c.*1584T>A|SEQ=[A

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

rs3777373

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134391612A>G
NC_000005.9   g.133727303A>G
NG_046936.1   g.25437A>G
NM_003337.4   c.*1259A>G
NM_003337.3   c.*1259A>G
NM_003337.2   c.*1259A>G|SEQ=[A/G]|GENE=UBE2B

Protein Summary

• Protein general information: Q02410  
  • Name: Amyloid beta A4 precursor protein binding family A member 1 (Adapter protein X11alpha) (Neuron specific X11 protein) (Neuronal Munc18 1 interacting protein 1) (Mint 1)
  • Length: 837  
  • Mass: 92865
  • Tissue specificity: Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung, liver or spleen. {ECO
• Sequence:

  MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDLRAQLGQEEEERGECL
  ARSASTESGFHNHTDTAEGDVIAAARDGYDAERAQDPEDESAYAVQYRPEAEEYTEQAEAEHAEATHRRALPNHL
  HFHSLEHEEAMNAAYSGYVYTHRLFHRGEDEPYSEPYADYGGLQEHVYEEIGDAPELDARDGLRLYEQERDEAAA
  YRQEALGARLHHYDERSDGESDSPEKEAEFAPYPRMDSYEQEEDIDQIVAEVKQSMSSQSLDKAAEDMPEAEQDL
  ERPPTPAGGRPDSPGLQAPAGQQRAVGPAGGGEAGQRYSKEKRDAISLAIKDIKEAIEEVKTRTIRSPYTPDEPK
  EPIWVMRQDISPTRDCDDQRPMDGDSPSPGSSSPLGAESSSTSLHPSDPVEASTNKESRKSLASFPTYVEVPGPC
  DPEDLIDGIIFAANYLGSTQLLSDKTPSKNVRMMQAQEAVSRIKMAQKLAKSRKKAPEGESQPMTEVDLFISTQR
  IKVLNADTQETMMDHPLRTISYIADIGNIVVLMARRRMPRSNSQENVEASHPSQDGKRQYKMICHVFESEDAQLI
  AQSIGQAFSVAYQEFLRANGINPEDLSQKEYSDLLNTQDMYNDDLIHFSKSENCKDVFIEKQKGEILGVVIVESG
  WGSILPTVIIANMMHGGPAEKSGKLNIGDQIMSINGTSLVGLPLSTCQSIIKGLKNQSRVKLNIVRCPPVTTVLI
  RRPDLRYQLGFSVQNGIICSLMRGGIAERGGVRVGHRIIEINGQSVVATPHEKIVHILSNAVGEIHMKTMPAAMY
  RLLTAQEQPVYI

• Structural information:
  • Protein Domains: (457..64-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148-)
    (656..74-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (747..82-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR030530  IPR001478  IPR036034  IPR011993  IPR006020  
  • Prosite: PS50106 PS01179
  • PDB: 1AQC 1U37 1U38 1U39 1U3B 1X11 1X45 1Y7N
  • PDBsum: 1AQC 1U37 1U38 1U39 1U3B 1X11 1X45 1Y7N
  • STRING: ENSP00000265381
• Other Databases: GeneCards:  APBA1  Malacards:  APBA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006886	intracellular protein transport	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0008088	axo-dendritic transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	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:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0048787	presynaptic active zone membrane	IEA	cellular component
GO:0014047	glutamate secretion	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014051	gamma-aminobutyric acid secretion	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006886	intracellular protein transport	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0008088	axo-dendritic transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	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:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0048787	presynaptic active zone membrane	IEA	cellular component
GO:0014047	glutamate secretion	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014051	gamma-aminobutyric acid secretion	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Low sperm motility	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Low sperm motility			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq