Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3141
Gene name	Holocarboxylase synthetase
Gene symbol	HLCS
Synonyms (NCBI Gene)	HCS
Chromosome	21
Chromosome location	21q22.13
Summary	This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of hol

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28934602	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs119103227	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs119103228	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs119103229	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs119103230	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs119103231	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs144572349	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs146448211	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, missense variant, downstream transcript variant
rs148324626	C>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs148981273	C>T	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs149291867	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs750728042	T>C	Likely-pathogenic	Splice acceptor variant
rs752737867	T>G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs753887925	C>T	Pathogenic-likely-pathogenic	Intron variant, genic downstream transcript variant
rs766163167	->T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs767533946	->A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs769499327	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs771944310	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs772791252	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs773102942	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs773398782	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs794727957	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, intron variant, stop gained, coding sequence variant
rs796051978	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant
rs878852989	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs1057516035	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1064796014	AGAAGGTTCAGGCTTCG>CCTTAATCTCAGGCTTAATCTCAAGCAA	Likely-pathogenic	Coding sequence variant, stop gained, inframe indel, 5 prime UTR variant, non coding transcript variant
rs1175936807	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant, splice donor variant
rs1284747916	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1393866282	G>A	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1466111134	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1555882068	->G	Likely-pathogenic	Downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1555930523	AG>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555951858	C>T	Likely-pathogenic	Splice donor variant
rs1555955827	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1569218416	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1601779091	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1601803431	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant

262

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miRTarBase ID	miRNA	Experiments	Reference
MIRT718184	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT718185	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT718183	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT718182	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT718181	hsa-miR-4287	HITS-CLIP	19536157
MIRT718180	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT718179	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT718178	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT718177	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT718176	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT718175	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT718174	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT718173	hsa-miR-587	HITS-CLIP	19536157
MIRT710582	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT710581	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT710580	hsa-miR-1224-3p	HITS-CLIP	19536157
MIRT710579	hsa-miR-6072	HITS-CLIP	19536157
MIRT710578	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710577	hsa-miR-5193	HITS-CLIP	19536157
MIRT710576	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT626193	hsa-miR-4767	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT626193	hsa-miR-4767	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT440495	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440495	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT718184	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT718185	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT718183	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT718182	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT718181	hsa-miR-4287	HITS-CLIP	19536157
MIRT718180	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT718179	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT718178	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT718177	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT718176	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT718175	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT718174	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT718173	hsa-miR-587	HITS-CLIP	19536157
MIRT710582	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT710581	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT710580	hsa-miR-1224-3p	HITS-CLIP	19536157
MIRT710579	hsa-miR-6072	HITS-CLIP	19536157
MIRT710578	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT710577	hsa-miR-5193	HITS-CLIP	19536157
MIRT710576	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT626193	hsa-miR-4767	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT626193	hsa-miR-4767	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619795	hsa-miR-8485	HITS-CLIP	23824327
MIRT619794	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT619793	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT619792	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT619791	hsa-miR-4469	HITS-CLIP	23824327
MIRT619790	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT619789	hsa-miR-4539	HITS-CLIP	23824327
MIRT619788	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT619786	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619787	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT1048580	hsa-miR-1256	CLIP-seq
MIRT1048581	hsa-miR-200b	CLIP-seq
MIRT1048582	hsa-miR-200c	CLIP-seq
MIRT1048583	hsa-miR-3140-3p	CLIP-seq
MIRT1048584	hsa-miR-374c	CLIP-seq
MIRT1048585	hsa-miR-3978	CLIP-seq
MIRT1048586	hsa-miR-429	CLIP-seq
MIRT1048587	hsa-miR-655	CLIP-seq
MIRT1048588	hsa-miR-890	CLIP-seq
MIRT1048589	hsa-miR-1226	CLIP-seq
MIRT1048590	hsa-miR-1238	CLIP-seq
MIRT1048591	hsa-miR-1283	CLIP-seq
MIRT1048592	hsa-miR-139-5p	CLIP-seq
MIRT1048593	hsa-miR-3136-3p	CLIP-seq
MIRT1048594	hsa-miR-342-3p	CLIP-seq
MIRT1048595	hsa-miR-3545-3p	CLIP-seq
MIRT1048596	hsa-miR-3610	CLIP-seq
MIRT1048597	hsa-miR-3613-3p	CLIP-seq
MIRT1048598	hsa-miR-3614-5p	CLIP-seq
MIRT1048599	hsa-miR-3675-3p	CLIP-seq
MIRT1048600	hsa-miR-3922-5p	CLIP-seq
MIRT1048601	hsa-miR-3974	CLIP-seq
MIRT1048602	hsa-miR-3977	CLIP-seq
MIRT1048603	hsa-miR-4269	CLIP-seq
MIRT1048604	hsa-miR-4514	CLIP-seq
MIRT1048605	hsa-miR-4684-5p	CLIP-seq
MIRT1048606	hsa-miR-4692	CLIP-seq
MIRT1048607	hsa-miR-4693-3p	CLIP-seq
MIRT1048608	hsa-miR-4742-5p	CLIP-seq
MIRT1048609	hsa-miR-4772-3p	CLIP-seq
MIRT1048610	hsa-miR-574-5p	CLIP-seq
MIRT1048611	hsa-miR-624	CLIP-seq
MIRT1048612	hsa-miR-648	CLIP-seq
MIRT1048613	hsa-miR-106a	CLIP-seq
MIRT1048614	hsa-miR-106b	CLIP-seq
MIRT1048589	hsa-miR-1226	CLIP-seq
MIRT1048590	hsa-miR-1238	CLIP-seq
MIRT1048580	hsa-miR-1256	CLIP-seq
MIRT1048591	hsa-miR-1283	CLIP-seq
MIRT1048615	hsa-miR-151-3p	CLIP-seq
MIRT1048616	hsa-miR-17	CLIP-seq
MIRT1048617	hsa-miR-1825	CLIP-seq
MIRT1048618	hsa-miR-20a	CLIP-seq
MIRT1048619	hsa-miR-20b	CLIP-seq
MIRT1048620	hsa-miR-299-5p	CLIP-seq
MIRT1048621	hsa-miR-3120-5p	CLIP-seq
MIRT1048622	hsa-miR-3124-3p	CLIP-seq
MIRT1048623	hsa-miR-3138	CLIP-seq
MIRT1048583	hsa-miR-3140-3p	CLIP-seq
MIRT1048624	hsa-miR-3144-5p	CLIP-seq
MIRT1048625	hsa-miR-3191	CLIP-seq
MIRT1048626	hsa-miR-342-5p	CLIP-seq
MIRT1048595	hsa-miR-3545-3p	CLIP-seq
MIRT1048627	hsa-miR-3609	CLIP-seq
MIRT1048628	hsa-miR-3675-5p	CLIP-seq
MIRT1048629	hsa-miR-3682-5p	CLIP-seq
MIRT1048630	hsa-miR-3692	CLIP-seq
MIRT1048631	hsa-miR-3942-3p	CLIP-seq
MIRT1048632	hsa-miR-432	CLIP-seq
MIRT1048633	hsa-miR-4436b-5p	CLIP-seq
MIRT1048634	hsa-miR-4447	CLIP-seq
MIRT1048635	hsa-miR-4472	CLIP-seq
MIRT1048636	hsa-miR-4520a-3p	CLIP-seq
MIRT1048637	hsa-miR-4645-3p	CLIP-seq
MIRT1048638	hsa-miR-4651	CLIP-seq
MIRT1048639	hsa-miR-4652-5p	CLIP-seq
MIRT1048640	hsa-miR-4664-5p	CLIP-seq
MIRT1048641	hsa-miR-4731-5p	CLIP-seq
MIRT1048609	hsa-miR-4772-3p	CLIP-seq
MIRT1048642	hsa-miR-4796-3p	CLIP-seq
MIRT1048643	hsa-miR-491-5p	CLIP-seq
MIRT1048644	hsa-miR-513a-3p	CLIP-seq
MIRT1048645	hsa-miR-519d	CLIP-seq
MIRT1048646	hsa-miR-548a-5p	CLIP-seq
MIRT1048647	hsa-miR-548ab	CLIP-seq
MIRT1048648	hsa-miR-548ah	CLIP-seq
MIRT1048649	hsa-miR-548ak	CLIP-seq
MIRT1048650	hsa-miR-548b-5p	CLIP-seq
MIRT1048651	hsa-miR-548c-5p	CLIP-seq
MIRT1048652	hsa-miR-548d-5p	CLIP-seq
MIRT1048653	hsa-miR-548h	CLIP-seq
MIRT1048654	hsa-miR-548i	CLIP-seq
MIRT1048655	hsa-miR-548j	CLIP-seq
MIRT1048656	hsa-miR-548w	CLIP-seq
MIRT1048657	hsa-miR-548y	CLIP-seq
MIRT1048658	hsa-miR-559	CLIP-seq
MIRT1048659	hsa-miR-608	CLIP-seq
MIRT1048660	hsa-miR-618	CLIP-seq
MIRT1048661	hsa-miR-671-5p	CLIP-seq
MIRT1048662	hsa-miR-93	CLIP-seq
MIRT1048589	hsa-miR-1226	CLIP-seq
MIRT2011039	hsa-miR-3529	CLIP-seq
MIRT2011040	hsa-miR-3591-3p	CLIP-seq
MIRT2011041	hsa-miR-379	CLIP-seq
MIRT1048609	hsa-miR-4772-3p	CLIP-seq
MIRT2011042	hsa-miR-548ae	CLIP-seq
MIRT2011043	hsa-miR-548aj	CLIP-seq
MIRT2011044	hsa-miR-548am	CLIP-seq
MIRT2011045	hsa-miR-548x	CLIP-seq
MIRT1048615	hsa-miR-151-3p	CLIP-seq
MIRT2011046	hsa-miR-659	CLIP-seq
MIRT2389019	hsa-miR-1253	CLIP-seq
MIRT2389020	hsa-miR-1270	CLIP-seq
MIRT2389021	hsa-miR-140-5p	CLIP-seq
MIRT2389022	hsa-miR-3945	CLIP-seq
MIRT2389023	hsa-miR-4253	CLIP-seq
MIRT2389024	hsa-miR-4434	CLIP-seq
MIRT2389025	hsa-miR-4516	CLIP-seq
MIRT2389026	hsa-miR-4531	CLIP-seq
MIRT2389027	hsa-miR-620	CLIP-seq
MIRT2451235	hsa-miR-1183	CLIP-seq
MIRT2451236	hsa-miR-1244	CLIP-seq
MIRT2451237	hsa-miR-1273d	CLIP-seq
MIRT1048581	hsa-miR-200b	CLIP-seq
MIRT1048582	hsa-miR-200c	CLIP-seq
MIRT2451238	hsa-miR-3973	CLIP-seq
MIRT1048586	hsa-miR-429	CLIP-seq
MIRT2451239	hsa-miR-4423-5p	CLIP-seq
MIRT2451240	hsa-miR-4703-3p	CLIP-seq
MIRT2682324	hsa-miR-330-3p	CLIP-seq
MIRT2682325	hsa-miR-4446-5p	CLIP-seq
MIRT2682326	hsa-miR-759	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IDA	14613969
GO:0003824	Function	Catalytic activity	IEA
GO:0004077	Function	Biotin--[biotin carboxyl-carrier protein] ligase activity	IBA
GO:0004077	Function	Biotin--[biotin carboxyl-carrier protein] ligase activity	IDA	7842009, 9630604, 14613969
GO:0004077	Function	Biotin--[biotin carboxyl-carrier protein] ligase activity	IEA
GO:0004077	Function	Biotin--[biotin carboxyl-carrier protein] ligase activity	IMP	18429047
GO:0004077	Function	Biotin--[biotin carboxyl-carrier protein] ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	20085763, 21044950, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005652	Component	Nuclear lamina	IDA	14613969
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	IDA	9630604
GO:0005829	Component	Cytosol	TAS
GO:0006768	Process	Biotin metabolic process	IEA
GO:0006768	Process	Biotin metabolic process	TAS
GO:0009374	Function	Biotin binding	IDA	14613969
GO:0016363	Component	Nuclear matrix	IDA	14613969
GO:0016874	Function	Ligase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	19157941
GO:0042802	Function	Identical protein binding	IEA
GO:0043687	Process	Post-translational protein modification	IDA	14613969
GO:0070781	Process	Response to biotin	IDA	17904341
GO:0070781	Process	Response to biotin	IEA

MIM	HGNC	e!Ensembl
609018	4976	ENSG00000159267

P50747

Protein name

Biotin--protein ligase (EC 6.3.4.-) (Biotin apo-protein ligase) [Includes: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC 6.3.4.9); Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC 6.3.4.10) (Holocarboxylase synthetase) (HCS); B

Protein function

Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase. {ECO:0000269|PubMed:10590022, ECO:0000269|Pub

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09825	BPL_N	271 → 477	Biotin-protein ligase, N terminal	Family
PF03099	BPL_LplA_LipB	471 → 603	Biotin/lipoate A/B protein ligase family	Domain
PF02237	BPL_C	669 → 718	Biotin protein ligase C terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:7753853, PubMed:7842009). Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung (PubMed:7842009). {ECO:0000269|PubMed:7753853, ECO:0000269|PubMed:7842009}.

Sequence

MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEH
VGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESV
KFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFH
EVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQG
GKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSP
GRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRR
YEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSL
RFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMR
LLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPF
VQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGC
GFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVL
PLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNL
ILPKRR

Sequence length

726

Interactions

View interactions

	KEGG		Reactome
	Biotin metabolism Metabolic pathways		Biotin transport and metabolism Defective HLCS causes multiple carboxylase deficiency

939

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Holocarboxylase synthetase deficiency	Likely pathogenic; Pathogenic	rs2090068896, rs2145732111, rs1198548955, rs2065031709, rs1342457304, rs2146525207, rs1164174059, rs760372711, rs2146336447, rs2146336516, rs937407062, rs1015594025, rs1288789420, rs776431253, rs2146528200 View all (144 more)	RCV003032931 RCV001376817 RCV001377994 RCV001381046 RCV001389480 RCV001388680 RCV002036843 RCV001928415 RCV001999861 RCV002037787 RCV001942093 RCV001941608 RCV001949517 RCV001878143 RCV001963224 RCV002250043 RCV002250044 RCV000001984 RCV000001985 RCV000001986 RCV000001987 RCV000001988 RCV000001989 RCV000001990 RCV000001991 RCV002306627 RCV002306767 RCV002306802 RCV002309749 RCV002309814 RCV002309846 RCV002309890 RCV002308022 RCV002308116 RCV002308180 RCV002308229 RCV002308362 RCV002306834 RCV002307000 RCV002307039 RCV002307273 RCV002307328 RCV002310103 RCV002310178 RCV002310191 RCV002310362 RCV002310383 RCV002310470 RCV002310527 RCV002308408 RCV003056613 RCV003069002 RCV003072380 RCV002588682 RCV003111867 RCV002612739 RCV000665201 RCV000410410 RCV001385074 RCV002710744 RCV002770359 RCV002823763 RCV002797004 RCV002834588 RCV002857026 RCV002900425 RCV003017912 RCV003018436 RCV003022587 RCV003043827 RCV003057198 RCV003146036 RCV003155603 RCV003476424 RCV003476425 RCV003468337 RCV003468338 RCV003476426 RCV003468339 RCV003468340 RCV003468341 RCV003468342 RCV003476427 RCV003468343 RCV003468344 RCV003468345 RCV003468346 RCV003468347 RCV003468348 RCV003476428 RCV003468349 RCV003468350 RCV003468351 RCV003468352 RCV003476429 RCV003468353 RCV003468354 RCV003448852 RCV003498273 RCV003498795 RCV003498792 RCV003497360 RCV003497361 RCV003498323 RCV003498484 RCV003498710 RCV003600550 RCV003601645 RCV003599868 RCV003600086 RCV003600106 RCV003600005 RCV003599976 RCV003601189 RCV003601859 RCV003827648 RCV003863995 RCV003861656 RCV003860039 RCV003983772 RCV004576717 RCV004576718 RCV004576719 RCV004576720 RCV000408618 RCV000411747 RCV000412366 RCV002509407 RCV000668883 RCV000587858 RCV000669070 RCV000666043 RCV000664724 RCV000669490 RCV000669316 RCV000667420 RCV000673870 RCV000670192 RCV000664908 RCV000672511 RCV000669246 RCV000669580 RCV000702080 RCV000707072 RCV000722001 RCV000802952 RCV000815726 RCV000810578 RCV001068831 RCV001221153 RCV001234760 RCV001263893 RCV001263894 RCV001263895 RCV001263896 RCV001263897 RCV001264057 RCV001264058 RCV001264059 RCV001264060 RCV001264061 RCV001264062 RCV001264063 RCV001264064
Ovarian serous cystadenocarcinoma	Pathogenic	rs753887925	RCV005887198

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs1065758	RCV005886218
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	rs780790877, rs111603166	RCV005930324 RCV005899977
Colorectal cancer	Benign	rs1065758	RCV005886220
Familial cancer of breast	Likely benign; Benign	rs185222469, rs111603166	RCV005922762 RCV005899976
Hepatocellular carcinoma	Benign	rs2845804	RCV005923818
HLCS-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs148709879, rs2089984668, rs1159792714, rs149291867, rs191115811, rs139904712, rs116985497	RCV003935193 RCV004758862 RCV003917290 RCV003910323 RCV003922483 RCV003959888 RCV004758701
Lung cancer	Benign	rs115711809	RCV005897486
Malignant lymphoma, large B-cell, diffuse	Benign	rs1065758	RCV005886219
Uterine carcinosarcoma	Benign	rs1065758	RCV005886221
Uterine corpus endometrial carcinoma	Benign	rs76785742	RCV005892140

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Allergic Fungal Sinusitis	Associate	29253858
Biotin deficiency	Associate	15623830
Biotinidase Deficiency	Associate	3920902, 7102675
Borderline Personality Disorder	Associate	24367640
Breast Neoplasms	Associate	21303649
Down Syndrome	Associate	21249119, 9037601
Embryo Loss	Associate	22027809
Holocarboxylase Synthetase Deficiency	Associate	18974016, 39194177
Holocarboxylase Synthetase Deficiency	Inhibit	21195703, 7753853
Multiple Carboxylase Deficiency	Associate	11959985, 6794361
Nasal Polyps	Associate	29253858
Prostatic Neoplasms	Associate	25553844

HLCS (holocarboxylase synthetase)