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ELOVL4 (ELOVL fatty acid elongase 4)

Gene

6785

ELOVL fatty acid elongase 4

ELOVL4

ADMD, CT118, ISQMR, SCA34, STGD2, STGD3

6q14.1

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893946	G>C	Pathogenic	Coding sequence variant, stop gained
rs199860277	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906916	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs587776613	AGTTA>GTT	Pathogenic	Frameshift variant, coding sequence variant
rs587777598	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs746047636	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1057524307	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131690770	TTAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690772	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131692036	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1554162178	C>T	Likely-pathogenic	Splice donor variant
rs1554162301	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554162524	T>C	Likely-pathogenic	Splice acceptor variant
rs1561982219	C>T	Pathogenic	Splice acceptor variant
rs1582043186	->A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030702	hsa-miR-21-5p	Microarray	18591254
MIRT031100	hsa-miR-19b-3p	Sequencing	20371350
MIRT048019	hsa-miR-30c-5p	CLASH	23622248
MIRT046167	hsa-miR-30b-5p	CLASH	23622248
MIRT658717	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT658716	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT658715	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT658714	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT658713	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT658712	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT658711	hsa-miR-7702	HITS-CLIP	23824327
MIRT658717	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT658716	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT658715	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT658714	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT658713	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT658712	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT658711	hsa-miR-7702	HITS-CLIP	23824327
MIRT961244	hsa-miR-128	CLIP-seq
MIRT961245	hsa-miR-191	CLIP-seq
MIRT961246	hsa-miR-199a-3p	CLIP-seq
MIRT961247	hsa-miR-199b-3p	CLIP-seq
MIRT961248	hsa-miR-2116	CLIP-seq
MIRT961249	hsa-miR-218	CLIP-seq
MIRT961250	hsa-miR-2355-5p	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT961252	hsa-miR-3129-5p	CLIP-seq
MIRT961253	hsa-miR-323-3p	CLIP-seq
MIRT961254	hsa-miR-3679-3p	CLIP-seq
MIRT961255	hsa-miR-3935	CLIP-seq
MIRT961256	hsa-miR-4282	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT961258	hsa-miR-4432	CLIP-seq
MIRT961259	hsa-miR-4457	CLIP-seq
MIRT961260	hsa-miR-4662a-3p	CLIP-seq
MIRT961261	hsa-miR-4677-5p	CLIP-seq
MIRT961262	hsa-miR-4704-3p	CLIP-seq
MIRT961263	hsa-miR-4775	CLIP-seq
MIRT961264	hsa-miR-513b	CLIP-seq
MIRT961265	hsa-miR-577	CLIP-seq
MIRT961266	hsa-miR-590-3p	CLIP-seq
MIRT961267	hsa-miR-891b	CLIP-seq
MIRT961268	hsa-miR-936	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT1984883	hsa-miR-3591-3p	CLIP-seq
MIRT2219734	hsa-miR-1208	CLIP-seq
MIRT2219735	hsa-miR-1238	CLIP-seq
MIRT2219736	hsa-miR-1301	CLIP-seq
MIRT2219737	hsa-miR-194	CLIP-seq
MIRT1984883	hsa-miR-3591-3p	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT2219738	hsa-miR-4520a-3p	CLIP-seq
MIRT2219739	hsa-miR-4520b-3p	CLIP-seq
MIRT2219740	hsa-miR-4529-3p	CLIP-seq
MIRT2219741	hsa-miR-4643	CLIP-seq
MIRT2219742	hsa-miR-466	CLIP-seq
MIRT2219743	hsa-miR-4660	CLIP-seq
MIRT2219744	hsa-miR-4713-5p	CLIP-seq
MIRT2219745	hsa-miR-4789-3p	CLIP-seq
MIRT2219746	hsa-miR-5047	CLIP-seq
MIRT2219747	hsa-miR-505	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2219749	hsa-miR-873	CLIP-seq
MIRT2448798	hsa-miR-1243	CLIP-seq
MIRT2448799	hsa-miR-3175	CLIP-seq
MIRT2448800	hsa-miR-4716-3p	CLIP-seq
MIRT2448801	hsa-miR-4723-5p	CLIP-seq
MIRT2448802	hsa-miR-4764-5p	CLIP-seq
MIRT2523263	hsa-miR-105	CLIP-seq
MIRT2523264	hsa-miR-1251	CLIP-seq
MIRT961244	hsa-miR-128	CLIP-seq
MIRT2523265	hsa-miR-129-5p	CLIP-seq
MIRT2523266	hsa-miR-133a	CLIP-seq
MIRT2523267	hsa-miR-133b	CLIP-seq
MIRT2523268	hsa-miR-145	CLIP-seq
MIRT961250	hsa-miR-2355-5p	CLIP-seq
MIRT2523269	hsa-miR-23a	CLIP-seq
MIRT2523270	hsa-miR-23b	CLIP-seq
MIRT2523271	hsa-miR-23c	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT2523272	hsa-miR-3140-3p	CLIP-seq
MIRT2523273	hsa-miR-3180-5p	CLIP-seq
MIRT2523274	hsa-miR-325	CLIP-seq
MIRT2523275	hsa-miR-3613-3p	CLIP-seq
MIRT2523276	hsa-miR-3653	CLIP-seq
MIRT2523277	hsa-miR-3658	CLIP-seq
MIRT2523278	hsa-miR-3671	CLIP-seq
MIRT961254	hsa-miR-3679-3p	CLIP-seq
MIRT2523279	hsa-miR-3685	CLIP-seq
MIRT2523280	hsa-miR-384	CLIP-seq
MIRT2523281	hsa-miR-4272	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT2523282	hsa-miR-4433	CLIP-seq
MIRT2523283	hsa-miR-4684-5p	CLIP-seq
MIRT2523284	hsa-miR-4719	CLIP-seq
MIRT2523285	hsa-miR-4768-5p	CLIP-seq
MIRT2523286	hsa-miR-496	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2523287	hsa-miR-607	CLIP-seq
MIRT2523288	hsa-miR-628-3p	CLIP-seq
MIRT2523289	hsa-miR-653	CLIP-seq
MIRT2523290	hsa-miR-664	CLIP-seq
MIRT2523265	hsa-miR-129-5p	CLIP-seq
MIRT2523266	hsa-miR-133a	CLIP-seq
MIRT2523267	hsa-miR-133b	CLIP-seq
MIRT2523268	hsa-miR-145	CLIP-seq
MIRT2523269	hsa-miR-23a	CLIP-seq
MIRT2523270	hsa-miR-23b	CLIP-seq
MIRT2523271	hsa-miR-23c	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT2523272	hsa-miR-3140-3p	CLIP-seq
MIRT2523273	hsa-miR-3180-5p	CLIP-seq
MIRT2523276	hsa-miR-3653	CLIP-seq
MIRT2523277	hsa-miR-3658	CLIP-seq
MIRT2523279	hsa-miR-3685	CLIP-seq
MIRT2523280	hsa-miR-384	CLIP-seq
MIRT2679954	hsa-miR-4666-5p	CLIP-seq
MIRT2523285	hsa-miR-4768-5p	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2523289	hsa-miR-653	CLIP-seq
MIRT2679955	hsa-miR-656	CLIP-seq
MIRT2523290	hsa-miR-664	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20937905, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	20937905
GO:0006633	Process	Fatty acid biosynthetic process	NAS	11138005
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	NAS	11138005
GO:0009584	Process	Detection of visible light	IEA
GO:0009922	Function	Fatty acid elongase activity	IBA	21873635
GO:0009922	Function	Fatty acid elongase activity	ISS
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IBA	21873635
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IDA	20937905
GO:0030148	Process	Sphingolipid biosynthetic process	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	16036915
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IBA	21873635
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IBA	21873635
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	ISS
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	IEA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA	21873635
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IDA	20937905
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	ISS
GO:0102336	Function	3-oxo-arachidoyl-CoA synthase activity	IEA
GO:0102337	Function	3-oxo-cerotoyl-CoA synthase activity	IEA
GO:0102338	Function	3-oxo-lignoceronyl-CoA synthase activity	IEA
GO:0102756	Function	Very-long-chain 3-ketoacyl-CoA synthase activity	IEA

MIM	HGNC	e!Ensembl
605512	14415	ENSG00000118402

Protein

UniProt ID

Q9GZR5

Protein name

Very long chain fatty acid elongase 4 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL4) (ELOVL fatty acid elongase 4) (ELOVL FA elongase 4) (Elongation of very long chain fatty acids protein 4) (Very long chain 3-ketoacyl-CoA synthase 4) (Very long chain 3

Protein function

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01151	ELO	41 → 278	GNS1/SUR4 family	Family

Sequence

MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFV
WLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVH
EVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQ
AFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
ENGKKQKNGKAKGD

Sequence length

314

Interactions

View interactions

	KEGG
	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Ichthyosis, spastic quadriplegia, and mental retardation	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	rs387906916, rs1131690772, rs1554162524, rs1561982219, rs746047636	22100072
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
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Age-related macular degeneration	Age related macular degeneration	rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spinocerebellar ataxia	Erythrokeratodermia with ataxia, Spinocerebellar ataxia type 34	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	26010696, 24566826
Stargardt disease	Stargardt disease 3, STARGARDT DISEASE 1 (disorder), Stargardt disease	rs779886453, rs121918284, rs1131690770, rs587776613, rs104893946, rs137853006, rs61751408, rs61750061, rs61753034, rs61751374, rs61750200, rs121909205, rs61750130, rs61752410, rs61753033, rs61755793, rs61755792, rs61755798, rs61755769, rs61755786, rs61755771, rs61755783, rs61750120, rs61755781, rs61755784, rs61755787, rs61755803, rs61755814, rs281865373, rs61748550, rs61748552, rs150774447, rs61748558, rs61752397, rs55732384, rs61749409, rs61749412, rs61752401, rs61749423, rs61751412, rs61749429, rs61750202, rs61749446, rs61751262, rs61749459, rs61750121, rs62646860, rs61750142, rs61752434, rs61750145, rs61750152, rs61750155, rs61751403, rs62646872, rs61750571, rs61753030, rs62642576, rs61750575, rs61750633, rs61751407, rs61750639, rs61750642, rs61753038, rs61750645, rs61750648, rs61750652, rs61750658, rs527236098, rs794727804, rs760549861, rs886044747, rs886044746, rs568792949, rs61750138, rs768278935, rs201471607, rs746566873, rs886044728, rs886037880, rs575453437, rs201855602, rs543698823, rs61750638, rs762150575, rs1064793931, rs112005636, rs1553187939, rs1553186896, rs778234759, rs764759172, rs1554270834, rs564754426, rs141823837, rs1571241930, rs1571241947, rs2297669, rs1571264551, rs1570367144, rs1570370929, rs1570380080, rs1570386206, rs1582780550, rs1591303900, rs1599991268, rs1599992622, rs748989557, rs1571264574, rs754899711, rs1570377861, rs1402837406, rs1591266591, rs769723975, rs1557787473, rs373680665, rs745704627, rs1208195953, rs1571245809, rs1571252997, rs746252741, rs1437993640, rs1571256775, rs1570370826, rs1570393727, rs1570407032, rs779743222, rs1570433137, rs886044740, rs1592218346, rs1659430629, rs1659900228, rs1660761326, rs1661577361, rs1662327418, rs1761021773, rs1662216783, rs747950242, rs542919944, rs369507460, rs751844313, rs61755813, rs1242862941	20633576

Show/Hide Unknown Diseases (12)

Unknown
Disease name	Disease term	dbSNP ID	References
Anetoderma	Atrophoderma maculatum
Cerebellar atrophy	Cerebellar atrophy
Disorder of eye	Disorder of eye
Dysarthria	Dysarthria
Hyperkeratosis	Hyperkeratosis
Hypohidrosis	Hypohidrosis
Ichthyosis congenita	Ichthyosiform Erythroderma, Congenital
Nyctalopia	Nyctalopia
Septicemia	Septicemia
Spastic quadriplegia	Spastic Quadriplegia
Strabismus	Strabismus
Urticaria	Urticaria

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