ALDH6A1 (aldehyde dehydrogenase 6 family member A1)

Gene

• Entrez ID: 4329
• Gene name: Aldehyde dehydrogenase 6 family member A1
• Gene symbol: ALDH6A1
• Synonyms: MMSADHA, MMSDH
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irrever

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052812	hsa-miR-320e	CLASH	23622248
MIRT705799	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT705798	hsa-miR-3937	HITS-CLIP	23313552
MIRT705797	hsa-miR-4794	HITS-CLIP	23313552
MIRT705796	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705795	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT705794	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT705793	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT705792	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT705791	hsa-miR-1827	HITS-CLIP	23313552
MIRT705790	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT705789	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT705788	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT705787	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT705786	hsa-miR-3652	HITS-CLIP	23313552
MIRT705785	hsa-miR-4430	HITS-CLIP	23313552
MIRT705784	hsa-miR-6772-5p	HITS-CLIP	23313552
MIRT705783	hsa-miR-609	HITS-CLIP	23313552
MIRT705782	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT705781	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT705780	hsa-miR-3680-3p	HITS-CLIP	23313552
MIRT660770	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660769	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660767	hsa-miR-4282	HITS-CLIP	23824327
MIRT660768	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT660766	hsa-miR-623	HITS-CLIP	23824327
MIRT660765	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT660764	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660763	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT660762	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660761	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT660760	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT660759	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660758	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT660757	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660756	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660755	hsa-miR-4284	HITS-CLIP	23824327
MIRT660754	hsa-miR-1297	HITS-CLIP	23824327
MIRT660753	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT660752	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT660751	hsa-miR-4465	HITS-CLIP	23824327
MIRT660750	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT660749	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT705797	hsa-miR-4794	PAR-CLIP	27292025
MIRT705797	hsa-miR-4794	PAR-CLIP	27292025
MIRT705796	hsa-miR-664a-5p	PAR-CLIP	27292025
MIRT705796	hsa-miR-664a-5p	PAR-CLIP	27292025
MIRT705799	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT705798	hsa-miR-3937	HITS-CLIP	23313552
MIRT705797	hsa-miR-4794	HITS-CLIP	23313552
MIRT705796	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705795	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT705794	hsa-miR-3064-5p	HITS-CLIP	23313552
MIRT705793	hsa-miR-6504-5p	HITS-CLIP	23313552
MIRT705792	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT705791	hsa-miR-1827	HITS-CLIP	23313552
MIRT705790	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT705789	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT705788	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT705787	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT705786	hsa-miR-3652	HITS-CLIP	23313552
MIRT705785	hsa-miR-4430	HITS-CLIP	23313552
MIRT705784	hsa-miR-6772-5p	HITS-CLIP	23313552
MIRT705783	hsa-miR-609	HITS-CLIP	23313552
MIRT705782	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT705781	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT705780	hsa-miR-3680-3p	HITS-CLIP	23313552
MIRT660770	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660769	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660767	hsa-miR-4282	HITS-CLIP	23824327
MIRT660768	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT660766	hsa-miR-623	HITS-CLIP	23824327
MIRT660765	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT660764	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660763	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT660762	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT660761	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT660760	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT660759	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660758	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT660757	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660756	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660755	hsa-miR-4284	HITS-CLIP	23824327
MIRT660754	hsa-miR-1297	HITS-CLIP	23824327
MIRT660753	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT660752	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT660751	hsa-miR-4465	HITS-CLIP	23824327
MIRT660750	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT660749	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT777646	hsa-miR-1200	CLIP-seq
MIRT777647	hsa-miR-1343	CLIP-seq
MIRT777648	hsa-miR-1913	CLIP-seq
MIRT777649	hsa-miR-3200-5p	CLIP-seq
MIRT777650	hsa-miR-320a	CLIP-seq
MIRT777651	hsa-miR-320b	CLIP-seq
MIRT777652	hsa-miR-320c	CLIP-seq
MIRT777653	hsa-miR-320d	CLIP-seq
MIRT777654	hsa-miR-324-3p	CLIP-seq
MIRT777655	hsa-miR-378g	CLIP-seq
MIRT777656	hsa-miR-3915	CLIP-seq
MIRT777657	hsa-miR-3928	CLIP-seq
MIRT777658	hsa-miR-3942-3p	CLIP-seq
MIRT777659	hsa-miR-4303	CLIP-seq
MIRT777660	hsa-miR-4324	CLIP-seq
MIRT777661	hsa-miR-4429	CLIP-seq
MIRT777662	hsa-miR-4437	CLIP-seq
MIRT777663	hsa-miR-4503	CLIP-seq
MIRT777664	hsa-miR-4540	CLIP-seq
MIRT777665	hsa-miR-4674	CLIP-seq
MIRT777666	hsa-miR-4699-5p	CLIP-seq
MIRT777667	hsa-miR-4706	CLIP-seq
MIRT777668	hsa-miR-4749-5p	CLIP-seq
MIRT777669	hsa-miR-4787-5p	CLIP-seq
MIRT777670	hsa-miR-544b	CLIP-seq
MIRT777671	hsa-miR-630	CLIP-seq
MIRT777672	hsa-miR-633	CLIP-seq
MIRT777673	hsa-miR-744	CLIP-seq
MIRT1929598	hsa-miR-3121-3p	CLIP-seq
MIRT1929599	hsa-miR-3646	CLIP-seq
MIRT1929600	hsa-miR-371b-5p	CLIP-seq
MIRT777658	hsa-miR-3942-3p	CLIP-seq
MIRT1929601	hsa-miR-4289	CLIP-seq
MIRT777663	hsa-miR-4503	CLIP-seq
MIRT1929602	hsa-miR-4698	CLIP-seq
MIRT1929603	hsa-miR-4709-3p	CLIP-seq
MIRT1929604	hsa-miR-4775	CLIP-seq
MIRT1929605	hsa-miR-4777-3p	CLIP-seq
MIRT1929606	hsa-miR-539	CLIP-seq
MIRT1929607	hsa-miR-590-3p	CLIP-seq
MIRT777672	hsa-miR-633	CLIP-seq
MIRT2170430	hsa-miR-2682	CLIP-seq
MIRT777649	hsa-miR-3200-5p	CLIP-seq
MIRT2170431	hsa-miR-376a	CLIP-seq
MIRT2170432	hsa-miR-376b	CLIP-seq
MIRT777658	hsa-miR-3942-3p	CLIP-seq
MIRT1929601	hsa-miR-4289	CLIP-seq
MIRT2170433	hsa-miR-449c	CLIP-seq
MIRT2170434	hsa-miR-4704-5p	CLIP-seq
MIRT1929606	hsa-miR-539	CLIP-seq
MIRT2170435	hsa-miR-940	CLIP-seq
MIRT2674905	hsa-miR-127-5p	CLIP-seq
MIRT2674906	hsa-miR-3613-3p	CLIP-seq
MIRT1929599	hsa-miR-3646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating) activity	IBA	21873635
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating) activity	IMP	23835272
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating) activity	ISS
GO:0004491	Function	Methylmalonate-semialdehyde dehydrogenase (acylating) activity	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	NAS	1527093
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006210	Process	Thymine catabolic process	IBA	21873635
GO:0006210	Process	Thymine catabolic process	IMP	23835272
GO:0006573	Process	Valine metabolic process	ISS
GO:0006574	Process	Valine catabolic process	IBA	21873635
GO:0006574	Process	Valine catabolic process	IMP	23835272
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0018478	Function	Malonate-semialdehyde dehydrogenase (acetylating) activity	IBA	21873635
GO:0018478	Function	Malonate-semialdehyde dehydrogenase (acetylating) activity	ISS
GO:0019859	Process	Thymine metabolic process	ISS
GO:0050873	Process	Brown fat cell differentiation	IEA

Other IDs

• MIM: 603178
• HGNC: 7179
• e!Ensembl: ENSG00000119711

Protein

• UniProt ID: Q02252
• Protein name: Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) (EC 1.2.1.27) (Aldehyde dehydrogenase family 6 member A1) (Malonate-semialdehyde dehydrogenase [acylating])
• Protein function: Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine.
• PDB: 8XXQ, 9IZU, 9IZV, 9IZW, 9IZX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	48 → 512	Aldehyde dehydrogenase family	Family

• Sequence:

  MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIH
  NPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIA
  KLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCA
  GIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
  QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
  TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLIT
  PQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG
  PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
  MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR

• Sequence length: 535

Pathways

KEGG:

Valine, leucine and isoleucine degradation
beta-Alanine metabolism
Inositol phosphate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism

Reactome:

Branched-chain amino acid catabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay, Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Methylmalonate semialdehyde dehydrogenase deficiency	Methylmalonate Semialdehyde Dehydrogenase Deficiency	rs72552258, rs879255579, rs796065046, rs367863044, rs869320672	21863277, 10947204, 10971205, 23835272, 27604308
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	20882379

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital epicanthus	Congenital Epicanthus
Disorder of amino acid metabolism	Amino Acid Metabolism, Inborn Errors		10947204
Frontal bossing	Frontal bossing
High palate	Byzanthine arch palate
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Inherited errors of amino acid metabolism	Amino Acid Metabolism, Inherited Disorders		10947204
Myocardial ischemia	Myocardial Ischemia		16214533