Male Infertility Database

Search Result

Gene id

189

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

AGXT Gene UCSC Ensembl

Aliases

AGT, AGT1, AGXT1, PH1, SPAT, SPT, TLH6

Gene name

alanine--glyoxylate and serine--pyruvate aminotransferase

Alternate names

serine--pyruvate aminotransferase, L-alanine: glyoxylate aminotransferase 1, alanine-glyoxylate aminotransferase, hepatic peroxisomal alanine:glyoxylate aminotransferase,

Gene location

2q37.3 (240868823: 240880499) Exons: 11 NC_000002.12

Gene summary(Entrez)

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type

OMIM

612374

SNPs

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

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

P21549

Name: Serine pyruvate aminotransferase (SPT) (EC 2.6.1.51) (Alanine glyoxylate aminotransferase) (AGT) (EC 2.6.1.44)

Length: 392 Mass: 43010

Tissue specificity: Liver.

Sequence

MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLT
LVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVL
LFLTHGESSTGVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDK
AKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHG
RLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDR
VTEALRAALQHCPKKKL

Structural information

Interpro:	IPR000192 IPR020578 IPR015424 IPR015422 IPR015421 IPR024169
Prosite:	PS00595
PDB:	1H0C 1J04 2YOB 3R9A 4CBR 4CBS 4I8A 4KXK 4KYO 5F9S 5HHY 5LUC 5OFY 5OG0
PDBsum:	1H0C 1J04 2YOB 3R9A 4CBR 4CBS 4I8A 4KXK 4KYO 5F9S 5HHY 5LUC 5OFY 5OG0
DIP:	59650
STRING:	ENSP00000302620

Other Databases

GeneCards: AGXT Malacards: AGXT

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	TAS	molecular function
GO:0030170	pyridoxal phosphate bindi ng	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046487	glyoxylate metabolic proc ess	IMP	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0008453	alanine-glyoxylate transa minase activity	IBA	molecular function
GO:0004760	serine-pyruvate transamin ase activity	IBA	molecular function
GO:0005777	peroxisome	IBA	cellular component
GO:0019265	glycine biosynthetic proc ess, by transamination of glyoxylate	IBA	biological process
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043621	protein self-association	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008483	transaminase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0008453	alanine-glyoxylate transa minase activity	IEA	molecular function
GO:0004760	serine-pyruvate transamin ase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to pero xisome	TAS	biological process
GO:0034641	cellular nitrogen compoun d metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
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: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: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:0051384	response to glucocorticoi d	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IEA	molecular function
GO:0046487	glyoxylate metabolic proc ess	IEA	biological process
GO:0008453	alanine-glyoxylate transa minase activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0042866	pyruvate biosynthetic pro cess	IEA	biological process
GO:0019265	glycine biosynthetic proc ess, by transamination of glyoxylate	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004760	serine-pyruvate transamin ase activity	IEA	molecular function
GO:0046724	oxalic acid secretion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030170	pyridoxal phosphate bindi ng	IDA	molecular function
GO:0016597	amino acid binding	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0042853	L-alanine catabolic proce ss	IDA	biological process
GO:0042853	L-alanine catabolic proce ss	IDA	biological process
GO:0019448	L-cysteine catabolic proc ess	IDA	biological process
GO:0019265	glycine biosynthetic proc ess, by transamination of glyoxylate	IDA	biological process
GO:0008483	transaminase activity	IDA	molecular function
GO:0005782	peroxisomal matrix	IDA	cellular component
GO:0005782	peroxisomal matrix	IDA	cellular component
GO:0030170	pyridoxal phosphate bindi ng	IDA	molecular function
GO:0042853	L-alanine catabolic proce ss	IDA	biological process
GO:0009436	glyoxylate catabolic proc ess	IDA	biological process
GO:0008483	transaminase activity	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	TAS	molecular function
GO:0030170	pyridoxal phosphate bindi ng	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046487	glyoxylate metabolic proc ess	IMP	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0008453	alanine-glyoxylate transa minase activity	IBA	molecular function
GO:0004760	serine-pyruvate transamin ase activity	IBA	molecular function
GO:0005777	peroxisome	IBA	cellular component
GO:0019265	glycine biosynthetic proc ess, by transamination of glyoxylate	IBA	biological process
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043621	protein self-association	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008483	transaminase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0008453	alanine-glyoxylate transa minase activity	IEA	molecular function
GO:0004760	serine-pyruvate transamin ase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to pero xisome	TAS	biological process
GO:0034641	cellular nitrogen compoun d metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
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: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: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:0051384	response to glucocorticoi d	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IEA	molecular function
GO:0046487	glyoxylate metabolic proc ess	IEA	biological process
GO:0008453	alanine-glyoxylate transa minase activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0042866	pyruvate biosynthetic pro cess	IEA	biological process
GO:0019265	glycine biosynthetic proc ess, by transamination of glyoxylate	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004760	serine-pyruvate transamin ase activity	IEA	molecular function
GO:0046724	oxalic acid secretion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030170	pyridoxal phosphate bindi ng	IDA	molecular function
GO:0016597	amino acid binding	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0008453	alanine-glyoxylate transa minase activity	IDA	molecular function
GO:0042853	L-alanine catabolic proce ss	IDA	biological process
GO:0042853	L-alanine catabolic proce ss	IDA	biological process
GO:0019448	L-cysteine catabolic proc ess	IDA	biological process
GO:0019265	glycine biosynthetic proc ess, by transamination of glyoxylate	IDA	biological process
GO:0008483	transaminase activity	IDA	molecular function
GO:0005782	peroxisomal matrix	IDA	cellular component
GO:0005782	peroxisomal matrix	IDA	cellular component
GO:0030170	pyridoxal phosphate bindi ng	IDA	molecular function
GO:0042853	L-alanine catabolic proce ss	IDA	biological process
GO:0009436	glyoxylate catabolic proc ess	IDA	biological process
GO:0008483	transaminase activity	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component

KEGG pathways

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Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04146	Peroxisome
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00260	Glycine, serine and threonine metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism

Diseases

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Associated diseases	References
Primary hyperoxaluria	KEGG:H00117
Primary hyperoxaluria	KEGG:H00117
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21674046	Aberrant C pGs in Low Motility Sperm			18	Male infertility	GSE26881	Show abstract
28606200	Cryptorchi dism			Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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