• Gene id: 18

Gene Summary

• Gene Symbol: ABAT   Gene   UCSC   Ensembl
• Aliases: GABA-AT, GABAT, NPD009
• Gene name: 4-aminobutyrate aminotransferase
• Alternate names: 4-aminobutyrate aminotransferase, mitochondrial, (S)-3-amino-2-methylpropionate transaminase, 4-aminobutyrate transaminase, GABA aminotransferase, GABA transaminase, GABA transferase, gamma-amino-N-butyrate transaminase, gamma-aminobutyrate aminotransferase,
• Gene location: 16p13.2 (8674616: 8784574)     Exons: 20     NC_000016.10
• Gene summary(Entrez): 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD
• OMIM: 137150

SNPs

rs777105668

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

NC_000003.12   g.184354548C>T
NC_000003.11   g.184072336C>T
NG_016422.1   g.12056G>A
NM_004366.6   c.1507G>A
NM_004366.5   c.1507G>A
NM_001171087.3   c.1456G>A
NM_001171087.2   c.1456G>A
NM_001171089.3   c.1507G>A
NM_001171089.2   c.1507G>A
NM_001171088.3   c.1375G>A
NM  

rs6897876

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

NC_000005.10   g.142308074T>C
NC_000005.10   g.142308074T>G
NC_000005.9   g.141687639T>C
NC_000005.9   g.141687639T>G|SEQ=[T/C/G]

rs3918242

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

NC_000020.11   g.46007337C>T
NC_000020.10   g.44635976C>T
NG_011468.1   g.3430C>T|SEQ=[C/T]|GENE=MMP9

rs11091748

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

NC_000023.11   g.50414986A>C
NC_000023.11   g.50414986A>G
NC_000023.11   g.50414986A>T
NW_004070877.1   g.128101A>C
NW_004070877.1   g.128101A>G
NW_004070877.1   g.128101A>T
NG_033143.2   g.60737T>G
NG_033143.2   g.60737T>C
NG_033143.2   g.60737T>A
NC_000023.10   g.5015

rs12171755

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

NC_000023.11   g.50436751C>G
NC_000023.11   g.50436751C>T
NW_004070877.1   g.149866C>G
NW_004070877.1   g.149866C>T
NG_033143.2   g.38972G>C
NG_033143.2   g.38972G>A
NC_000023.10   g.50179749C>G
NC_000023.10   g.50179749C>T|SEQ=[C/G/T]|GENE=DGKK

rs4143304

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

NC_000023.11   g.50403572C>T
NW_004070877.1   g.116687C>T
NG_033143.2   g.72151G>A
NM_001013742.4   c.1104G>A
NM_001013742.3   c.1104G>A
NM_001013742.2   c.1104G>A
NC_000023.10   g.50146570C>T
XM_017029268.2   c.1104G>A|SEQ=[C/T]|GENE=DGKK

rs17328236

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

NC_000023.11   g.50425211A>C
NC_000023.11   g.50425211A>G
NW_004070877.1   g.138326A>C
NW_004070877.1   g.138326A>G
NG_033143.2   g.50512T>G
NG_033143.2   g.50512T>C
NC_000023.10   g.50168209A>C
NC_000023.10   g.50168209A>G|SEQ=[A/C/G]|GENE=DGKK

rs1934179

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

NC_000023.11   g.50439186G>A
NW_004070877.1   g.152301G>A
NG_033143.2   g.36537C>T
NC_000023.10   g.50182184G>A|SEQ=[G/A]|GENE=DGKK

rs4554617

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

NC_000023.11   g.50460404A>C
NW_004070877.1   g.173519A>C
NG_033143.2   g.15319T>G
NC_000023.10   g.50203402A>C|SEQ=[A/C]|GENE=DGKK

rs1934183

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

NC_000023.11   g.50438016A>C
NW_004070877.1   g.151131A>C
NG_033143.2   g.37707T>G
NC_000023.10   g.50181014A>C|SEQ=[A/C]|GENE=DGKK

rs2211122

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

NC_000023.11   g.50459752T>C
NW_004070877.1   g.172867T>C
NG_033143.2   g.15971A>G
NC_000023.10   g.50202750T>C|SEQ=[T/C]|GENE=DGKK

rs9969978

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

NC_000023.11   g.50425307G>C
NW_004070877.1   g.138422G>C
NG_033143.2   g.50416C>G
NC_000023.10   g.50168305G>C|SEQ=[G/C]|GENE=DGKK

rs1934188

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

NC_000023.11   g.50406247G>A
NC_000023.11   g.50406247G>C
NW_004070877.1   g.119362G>A
NW_004070877.1   g.119362G>C
NG_033143.2   g.69476C>T
NG_033143.2   g.69476C>G
NC_000023.10   g.50149245G>A
NC_000023.10   g.50149245G>C|SEQ=[G/A/C]|GENE=DGKK

rs4826632

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

NC_000023.11   g.50454263G>T
NW_004070877.1   g.167378G>T
NG_033143.2   g.21460C>A
NC_000023.10   g.50197261G>T|SEQ=[G/T]|GENE=DGKK

rs4599945

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

NC_000023.11   g.50380968G>A
NC_000023.11   g.50380968G>T
NW_004070877.1   g.94083G>A
NW_004070877.1   g.94083G>T
NG_033143.2   g.94755C>T
NG_033143.2   g.94755C>A
NC_000023.10   g.50123966G>A
NC_000023.10   g.50123966G>T|SEQ=[G/A/T]|GENE=DGKK

rs2292596

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

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs34605051

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

NC_000002.12   g.86466703T>C
NC_000002.11   g.86693826T>C
NG_047167.1   g.31057T>C
NM_018433.6   c.1339T>C
NM_018433.5   c.1339T>C
NM_001146688.1   c.1339T>C
XM_006712051.4   c.-637T>C
XM_024452995.1   c.1339T>C
XM_024452994.1   c.1339T>C
XM_017004494.1   c.484T>C
XM_02  

rs4074319

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

NC_000023.11   g.50376189G>A
NW_004070877.1   g.89304G>A
NG_033143.2   g.99534C>T
NC_000023.10   g.50119188G>A|SEQ=[G/A]|GENE=DGKK

rs7879090

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

NC_000023.11   g.50376928A>G
NW_004070877.1   g.90043A>G
NG_033143.2   g.98795T>C
NC_000023.10   g.50119927A>G|SEQ=[A/G]|GENE=DGKK

rs5961179

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

NC_000023.11   g.50386371A>G
NW_004070877.1   g.99486A>G
NG_033143.2   g.89352T>C
NM_001013742.4   c.2334T>C
NM_001013742.3   c.2334T>C
NM_001013742.2   c.2334T>C
NC_000023.10   g.50129369A>G
XM_017029268.2   c.2334T>C|SEQ=[A/G]|GENE=DGKK

rs7882950

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

NC_000023.11   g.50386957C>T
NW_004070877.1   g.100072C>T
NG_033143.2   g.88766G>A
NC_000023.10   g.50129955C>T|SEQ=[C/T]|GENE=DGKK

rs12556919

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

NC_000023.11   g.50388166A>G
NC_000023.11   g.50388166A>T
NW_004070877.1   g.101281A>G
NW_004070877.1   g.101281A>T
NG_033143.2   g.87557T>C
NG_033143.2   g.87557T>A
NC_000023.10   g.50131164A>G
NC_000023.10   g.50131164A>T|SEQ=[A/G/T]|GENE=DGKK

rs12012084

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

NC_000023.11   g.50390683A>C
NC_000023.11   g.50390683A>G
NW_004070877.1   g.103798A>C
NW_004070877.1   g.103798A>G
NG_033143.2   g.85040T>G
NG_033143.2   g.85040T>C
NC_000023.10   g.50133681A>C
NC_000023.10   g.50133681A>G|SEQ=[A/C/G]|GENE=DGKK

rs17003341

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

NC_000023.11   g.50391813C>T
NW_004070877.1   g.104928C>T
NG_033143.2   g.83910G>A
NC_000023.10   g.50134811C>T|SEQ=[C/T]|GENE=DGKK

rs1320573

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

NC_000023.11   g.50397981C>T
NW_004070877.1   g.111096C>T
NG_033143.2   g.77742G>A
NC_000023.10   g.50140979C>T|SEQ=[C/T]|GENE=DGKK

rs17003346

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

NC_000023.11   g.50400511A>G
NW_004070877.1   g.113626A>G
NG_033143.2   g.75212T>C
NC_000023.10   g.50143509A>G|SEQ=[A/G]|GENE=DGKK

rs1934190

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

NC_000023.11   g.50400967G>A
NC_000023.11   g.50400967G>C
NC_000023.11   g.50400967G>T
NW_004070877.1   g.114082G>A
NW_004070877.1   g.114082G>C
NW_004070877.1   g.114082G>T
NG_033143.2   g.74756C>T
NG_033143.2   g.74756C>G
NG_033143.2   g.74756C>A
NC_000023.10   g.5014

rs17003348

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

NC_000023.11   g.50415123T>C
NW_004070877.1   g.128238T>C
NG_033143.2   g.60600A>G
NC_000023.10   g.50158121T>C|SEQ=[T/C]|GENE=DGKK

rs7888440

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

NC_000023.11   g.50415792G>C
NW_004070877.1   g.128907G>C
NG_033143.2   g.59931C>G
NC_000023.10   g.50158790G>C|SEQ=[G/C]|GENE=DGKK

rs7877459

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

NC_000023.11   g.50417673C>G
NW_004070877.1   g.130788C>G
NG_033143.2   g.58050G>C
NC_000023.10   g.50160671C>G|SEQ=[C/G]|GENE=DGKK

rs5961182

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

NC_000023.11   g.50432873C>A
NC_000023.11   g.50432873C>G
NC_000023.11   g.50432873C>T
NW_004070877.1   g.145988C>A
NW_004070877.1   g.145988C>G
NW_004070877.1   g.145988C>T
NG_033143.2   g.42850G>T
NG_033143.2   g.42850G>C
NG_033143.2   g.42850G>A
NC_000023.10   g.5017

rs1934170

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

NC_000023.11   g.50439853G>A
NC_000023.11   g.50439853G>C
NW_004070877.1   g.152968G>A
NW_004070877.1   g.152968G>C
NG_033143.2   g.35870C>T
NG_033143.2   g.35870C>G
NC_000023.10   g.50182851G>A
NC_000023.10   g.50182851G>C|SEQ=[G/A/C]|GENE=DGKK

rs6614511

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

NC_000023.11   g.50456494A>T
NW_004070877.1   g.169609A>T
NG_033143.2   g.19229T>A
NC_000023.10   g.50199492A>T|SEQ=[A/T]|GENE=DGKK

rs1934184

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

NC_000023.11   g.50462117C>A
NC_000023.11   g.50462117C>T
NW_004070877.1   g.175232C>A
NW_004070877.1   g.175232C>T
NG_033143.2   g.13606G>T
NG_033143.2   g.13606G>A
NC_000023.10   g.50205115C>A
NC_000023.10   g.50205115C>T|SEQ=[C/A/T]|GENE=DGKK

rs5961183

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

NC_000023.11   g.50462757T>C
NW_004070877.1   g.175872T>C
NG_033143.2   g.12966A>G
NC_000023.10   g.50205755T>C|SEQ=[T/C]|GENE=DGKK

rs7876567

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

NC_000023.11   g.50468742C>T
NW_004070877.1   g.181857C>T
NG_033143.2   g.6981G>A
NC_000023.10   g.50211741C>T|SEQ=[C/T]|GENE=DGKK

Protein Summary

• Protein general information: P80404  
  • Name: 4 aminobutyrate aminotransferase, mitochondrial (EC 2.6.1.19) ((S) 3 amino 2 methylpropionate transaminase) (EC 2.6.1.22) (GABA aminotransferase) (GABA AT) (Gamma amino N butyrate transaminase) (GABA transaminase) (GABA T) (L AIBAT)
  • Length: 500  
  • Mass: 56439
  • Tissue specificity: Liver > pancreas > brain > kidney > heart > placenta.
• Sequence:

  MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQNAEAVHFFC
  NYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQSLLSV
  APKGMSQLITMACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCL
  ATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
  DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAP
  YRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLLDLQARYPQFISRVRGRGTFCSFDTPDDSIR
  NKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDILADFK

• Structural information:
  • Interpro: IPR004631  IPR005814  IPR015424  IPR015422  IPR015421  
  • Prosite: PS00600
  • CDD: cd00610
  • STRING: ENSP00000379845
• Other Databases: GeneCards:  ABAT  Malacards:  ABAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030170	pyridoxal phosphate binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0009450	gamma-aminobutyric acid catabolic process	IBA	biological process
GO:0003867	4-aminobutyrate transaminase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0009448	gamma-aminobutyric acid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008483	transaminase activity	IEA	molecular function
GO:0034386	4-aminobutyrate:2-oxoglutarate transaminase activity	IEA	molecular function
GO:0047298	(S)-3-amino-2-methylpropionate transaminase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:1902722	positive regulation of prolactin secretion	IEA	biological process
GO:0097151	positive regulation of inhibitory postsynaptic potential	IEA	biological process
GO:0045776	negative regulation of blood pressure	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0033602	negative regulation of dopamine secretion	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0003867	4-aminobutyrate transaminase activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0048148	behavioral response to cocaine	IEA	biological process
GO:1904450	positive regulation of aspartate secretion	IEA	biological process
GO:0090331	negative regulation of platelet aggregation	IEA	biological process
GO:0070474	positive regulation of uterine smooth muscle contraction	IEA	biological process
GO:0045964	positive regulation of dopamine metabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0035640	exploration behavior	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0031652	positive regulation of heat generation	IEA	biological process
GO:0014053	negative regulation of gamma-aminobutyric acid secretion	IEA	biological process
GO:0010039	response to iron ion	IEA	biological process
GO:0009449	gamma-aminobutyric acid biosynthetic process	IEA	biological process
GO:0007620	copulation	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0032144	4-aminobutyrate transaminase complex	IDA	cellular component
GO:0003867	4-aminobutyrate transaminase activity	IDA	contributes to
GO:0009448	gamma-aminobutyric acid metabolic process	IDA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0032145	succinate-semialdehyde dehydrogenase binding	ISS	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0048148	behavioral response to cocaine	ISS	biological process
GO:0042135	neurotransmitter catabolic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04727	GABAergic synapse
hsa00280	Valine, leucine and isoleucine degradation
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism
hsa00650	Butanoate metabolism

Diseases

Associated diseases	References
GABA-transaminase deficiency	KEGG:H01257
GABA-transaminase deficiency	KEGG:H01257
Alzheimer's disease	PMID:1627256
Huntington's disease	PMID:6237280
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R