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

Show/Hide all (37)

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

Show/Hide all (262)

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (159 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs753887925	RCV005887198	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HLCS-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	31452690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	BEFREE	18845537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase deficiency	Pubtator	3920902, 7102675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	24367640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17291666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21303649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	31305294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	11458815, 15118855, 24324705, 28865129, 8200849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8472847, 8621623, 9259314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	29253858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	23794250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12624742, 21249119, 24166080, 30986102, 8839893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21249119, 9037601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	BEFREE	29082496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	BEFREE	10068510, 12633764, 14613969, 15456772, 18429047, 20095979, 21874615, 3920902, 6794361, 6798072, 8817339		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	CLINVAR_DG	10068510, 10190325, 10590022, 10653324, 11124959, 11185745, 11735028, 12124727, 12633764, 16134170, 16231399, 18429047, 18974016, 19157941, 19695181 View all (18 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	UNIPROT_DG	10190325, 10590022, 11735028, 12124727, 12633764, 16134170, 20095979, 25690727, 7842009, 8541348, 8817339, 9396568		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	ORPHANET_DG	16134170		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holocarboxylase synthetase deficiency	Holocarboxylase Synthetase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	GENOMICS_ENGLAND_DG	27114915, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	BEFREE	19800271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotonia-Cystinuria Syndrome	Hypotonia-Cystinuria Syndrome	BEFREE	23794250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	29531279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	23794250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	10653324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	10068510, 15456772, 20095979, 8817339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17291666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29253858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Perioral eczema	Perioral eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25553844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10653324, 8541348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	23794250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	GWASCAT_DG	27016271		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HLCS (holocarboxylase synthetase)