AUH (AU RNA binding methylglutaconyl-CoA hydratase)

Gene

• Entrez ID: 549
• Gene name: AU RNA binding methylglutaconyl-CoA hydratase
• Gene symbol: AUH
• Synonyms: -
• Chromosome: 9
• Chromosome location: 9q22.31
• Summary: This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434636	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs146227896	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs200030276	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906755	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs387906756	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730880309	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs730880310	C>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs730880311	T>C	Pathogenic	Splice acceptor variant
rs730880312	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748318386	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs755299132	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs863223913	G>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, downstream transcript variant
rs1554708417	->G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587799880	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1587943560	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021347	hsa-miR-9-5p	Microarray	17612493
MIRT047037	hsa-miR-183-5p	CLASH	23622248
MIRT812080	hsa-miR-1284	CLIP-seq
MIRT812081	hsa-miR-23a	CLIP-seq
MIRT812082	hsa-miR-23b	CLIP-seq
MIRT812083	hsa-miR-23c	CLIP-seq
MIRT812084	hsa-miR-340	CLIP-seq
MIRT812085	hsa-miR-345	CLIP-seq
MIRT812086	hsa-miR-34b	CLIP-seq
MIRT812087	hsa-miR-3941	CLIP-seq
MIRT812088	hsa-miR-425	CLIP-seq
MIRT812089	hsa-miR-4256	CLIP-seq
MIRT812090	hsa-miR-4427	CLIP-seq
MIRT812091	hsa-miR-4517	CLIP-seq
MIRT812092	hsa-miR-4643	CLIP-seq
MIRT812093	hsa-miR-4652-3p	CLIP-seq
MIRT812094	hsa-miR-466	CLIP-seq
MIRT812095	hsa-miR-4661-5p	CLIP-seq
MIRT812096	hsa-miR-4672	CLIP-seq
MIRT812097	hsa-miR-4680-3p	CLIP-seq
MIRT812098	hsa-miR-4704-5p	CLIP-seq
MIRT812099	hsa-miR-4762-3p	CLIP-seq
MIRT812100	hsa-miR-4778-5p	CLIP-seq
MIRT812101	hsa-miR-4789-3p	CLIP-seq
MIRT812102	hsa-miR-4789-5p	CLIP-seq
MIRT812103	hsa-miR-586	CLIP-seq
MIRT812104	hsa-miR-602	CLIP-seq
MIRT812080	hsa-miR-1284	CLIP-seq
MIRT812081	hsa-miR-23a	CLIP-seq
MIRT812082	hsa-miR-23b	CLIP-seq
MIRT812083	hsa-miR-23c	CLIP-seq
MIRT1940193	hsa-miR-3180-5p	CLIP-seq
MIRT812084	hsa-miR-340	CLIP-seq
MIRT812085	hsa-miR-345	CLIP-seq
MIRT812089	hsa-miR-4256	CLIP-seq
MIRT812090	hsa-miR-4427	CLIP-seq
MIRT812093	hsa-miR-4652-3p	CLIP-seq
MIRT812095	hsa-miR-4661-5p	CLIP-seq
MIRT812097	hsa-miR-4680-3p	CLIP-seq
MIRT812098	hsa-miR-4704-5p	CLIP-seq
MIRT812099	hsa-miR-4762-3p	CLIP-seq
MIRT812100	hsa-miR-4778-5p	CLIP-seq
MIRT812102	hsa-miR-4789-5p	CLIP-seq
MIRT1940194	hsa-miR-520a-5p	CLIP-seq
MIRT1940195	hsa-miR-525-5p	CLIP-seq
MIRT1940196	hsa-miR-556-3p	CLIP-seq
MIRT812080	hsa-miR-1284	CLIP-seq
MIRT812084	hsa-miR-340	CLIP-seq
MIRT812085	hsa-miR-345	CLIP-seq
MIRT812086	hsa-miR-34b	CLIP-seq
MIRT2179091	hsa-miR-3668	CLIP-seq
MIRT2179092	hsa-miR-3924	CLIP-seq
MIRT812088	hsa-miR-425	CLIP-seq
MIRT812089	hsa-miR-4256	CLIP-seq
MIRT812090	hsa-miR-4427	CLIP-seq
MIRT812091	hsa-miR-4517	CLIP-seq
MIRT812093	hsa-miR-4652-3p	CLIP-seq
MIRT812095	hsa-miR-4661-5p	CLIP-seq
MIRT812097	hsa-miR-4680-3p	CLIP-seq
MIRT812098	hsa-miR-4704-5p	CLIP-seq
MIRT812099	hsa-miR-4762-3p	CLIP-seq
MIRT812100	hsa-miR-4778-5p	CLIP-seq
MIRT812102	hsa-miR-4789-5p	CLIP-seq
MIRT812103	hsa-miR-586	CLIP-seq
MIRT2444493	hsa-miR-103a	CLIP-seq
MIRT2444494	hsa-miR-107	CLIP-seq
MIRT2444495	hsa-miR-155	CLIP-seq
MIRT2444496	hsa-miR-590-3p	CLIP-seq
MIRT2444493	hsa-miR-103a	CLIP-seq
MIRT2444494	hsa-miR-107	CLIP-seq
MIRT2444495	hsa-miR-155	CLIP-seq
MIRT2444496	hsa-miR-590-3p	CLIP-seq
MIRT2482550	hsa-miR-133a	CLIP-seq
MIRT2482551	hsa-miR-133b	CLIP-seq
MIRT2482552	hsa-miR-412	CLIP-seq
MIRT2482553	hsa-miR-4686	CLIP-seq
MIRT2482554	hsa-miR-767-3p	CLIP-seq
MIRT2482555	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003730	Function	MRNA 3'-UTR binding	IDA	7892223
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA	21873635
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	7892223
GO:0004490	Function	Methylglutaconyl-CoA hydratase activity	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006552	Process	Leucine catabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0050011	Function	Itaconyl-CoA hydratase activity	IEA

Other IDs

• MIM: 600529
• HGNC: 890
• e!Ensembl: ENSG00000148090

Protein

• UniProt ID: Q13825
• Protein name: Methylglutaconyl-CoA hydratase, mitochondrial (3-MG-CoA hydratase) (EC 4.2.1.18) (AU-specific RNA-binding enoyl-CoA hydratase) (AU-binding protein/enoyl-CoA hydratase) (Itaconyl-CoA hydratase) (EC 4.2.1.56)
• Protein function: Catalyzes the fifth step in the leucine degradation pathway, the reversible hydration of 3-methylglutaconyl-CoA (3-MG-CoA) to 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) (PubMed:11738050, PubMed:12434311, PubMed:12655555, PubMed:16640564). Can cata
• PDB: 1HZD, 2ZQQ, 2ZQR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00378	ECH_1	84 → 339	Enoyl-CoA hydratase/isomerase	Domain

• Sequence:

  MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGG
  PAPKRGYSSEMKTEDELRVRHLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKS
  DKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAID
  GLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
  RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVD
  LVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE

• Sequence length: 339

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Metabolic pathways

Reactome:

Branched-chain amino acid catabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
3-methylglutaconic aciduria	3-@METHYLGLUTACONIC ACIDURIA, TYPE I	rs137854888, rs80356523, rs80356526, rs121434636, rs730880309, rs730880310, rs730880311, rs730880312, rs199474657, rs1603377590, rs104894941, rs2147483647, rs132630277, rs1603377747, rs1603376833, rs104894942, rs1603381671, rs587776741, rs28937899, rs387906755, rs387906756, rs387907218, rs397515738, rs397515740, rs397515747, rs587777224, rs759500860, rs748010262, rs786205138, rs144078282, rs200203460, rs786205139, rs876657402, rs794729166, rs794729167, rs797044891, rs748318386, rs876661038, rs876661112, rs878852999, rs878853654, rs777202372, rs1057516497, rs767006508, rs1057519080, rs1057519081, rs1057519082, rs1060500044, rs1085307797, rs1557194525, rs1244226820, rs974377052, rs781795144, rs1305711807, rs1557191074, rs1555087619, rs769894315, rs1557191170, rs1555736803, rs1555736814, rs1555736793, rs878853656, rs776019250, rs35135520, rs1569552731, rs1565424666, rs1568413644, rs1569552936, rs1603377945, rs1603381860, rs1587799880, rs1603376938, rs185461628, rs1219516037, rs780554501, rs368496010, rs2068570435, rs2068574381, rs2068331233	12434311, 27604308, 12655555, 6181239, 17130438, 16354225, 15033206, 16640564, 28438368, 20855850, 21840233
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Developmental delay	Global developmental delay	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
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Leukoencephalopathy	Leukoencephalopathy	rs34757931
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
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral atrophy	Cerebral atrophy
Dysarthria	Dysarthria
Dysmorphic features	Dysmorphic features		16354225, 12655555, 15033206, 20855850
Hypoglycemia	Hypoglycemia
Impaired cognition	Impaired cognition
Motor delay	Clumsiness - motor delay
Spastic quadriplegia	Spastic Quadriplegia
Spastic tetraparesis	Spastic tetraparesis	rs35077384