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	9197
Gene name	Solute carrier family 33 member 1
Gene symbol	SLC33A1
Synonyms (NCBI Gene)	ACATNAT-1AT1CCHLNDHPBDSSPG42
Chromosome	3
Chromosome location	3q25.31
Summary	The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have

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SNP ID	Visualize variation	Clinical significance	Consequence
rs76440173	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs1266904735	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1308995894	G>A,C	Pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant, stop gained, non coding transcript variant
rs1577455542	CATACTTACCTCAACAGC>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1577455897	C>T	Pathogenic	Splice acceptor variant

223

Show/Hide all (223)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018843	hsa-miR-335-5p	Microarray	18185580
MIRT020990	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT028666	hsa-miR-30a-5p	Proteomics	18668040
MIRT051368	hsa-let-7f-5p	CLASH	23622248
MIRT454593	hsa-miR-3145-5p	HITS-CLIP	23706177
MIRT454592	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT454591	hsa-miR-25-3p	HITS-CLIP	23706177
MIRT454590	hsa-miR-32-5p	HITS-CLIP	23706177
MIRT454589	hsa-miR-363-3p	HITS-CLIP	23706177
MIRT454588	hsa-miR-367-3p	HITS-CLIP	23706177
MIRT454587	hsa-miR-92a-3p	HITS-CLIP	23706177
MIRT454586	hsa-miR-92b-3p	HITS-CLIP	23706177
MIRT680901	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT680900	hsa-miR-6742-3p	HITS-CLIP	23706177
MIRT680899	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT680898	hsa-miR-6776-5p	HITS-CLIP	23706177
MIRT454585	hsa-miR-5186	HITS-CLIP	23706177
MIRT454583	hsa-miR-767-5p	HITS-CLIP	23706177
MIRT680897	hsa-miR-661	HITS-CLIP	23706177
MIRT680896	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT680895	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT454582	hsa-miR-500a-3p	HITS-CLIP	23706177
MIRT680894	hsa-miR-1262	HITS-CLIP	23706177
MIRT680893	hsa-miR-4701-3p	HITS-CLIP	23706177
MIRT680892	hsa-miR-6736-5p	HITS-CLIP	23706177
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT653615	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT653614	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT653613	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT653612	hsa-miR-4506	HITS-CLIP	23824327
MIRT653611	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT653610	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT653609	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT653608	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT653607	hsa-miR-3199	HITS-CLIP	23824327
MIRT653606	hsa-miR-8052	HITS-CLIP	23824327
MIRT653605	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT653604	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT454593	hsa-miR-3145-5p	PAR-CLIP	23592263
MIRT454592	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT454591	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT454590	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT454589	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT454588	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT454587	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT454586	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT454585	hsa-miR-5186	PAR-CLIP	23592263
MIRT454584	hsa-miR-4537	PAR-CLIP	23592263
MIRT454583	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT454582	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT454581	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT454580	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT454593	hsa-miR-3145-5p	HITS-CLIP	23706177
MIRT454592	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT454591	hsa-miR-25-3p	HITS-CLIP	23706177
MIRT454590	hsa-miR-32-5p	HITS-CLIP	23706177
MIRT454589	hsa-miR-363-3p	HITS-CLIP	23706177
MIRT454588	hsa-miR-367-3p	HITS-CLIP	23706177
MIRT454587	hsa-miR-92a-3p	HITS-CLIP	23706177
MIRT454586	hsa-miR-92b-3p	HITS-CLIP	23706177
MIRT680901	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT680900	hsa-miR-6742-3p	HITS-CLIP	23706177
MIRT680899	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT680898	hsa-miR-6776-5p	HITS-CLIP	23706177
MIRT454585	hsa-miR-5186	HITS-CLIP	23706177
MIRT454583	hsa-miR-767-5p	HITS-CLIP	23706177
MIRT680897	hsa-miR-661	HITS-CLIP	23706177
MIRT680896	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT680895	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT454582	hsa-miR-500a-3p	HITS-CLIP	23706177
MIRT680894	hsa-miR-1262	HITS-CLIP	23706177
MIRT680893	hsa-miR-4701-3p	HITS-CLIP	23706177
MIRT680892	hsa-miR-6736-5p	HITS-CLIP	23706177
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT653615	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT653614	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT653613	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT653612	hsa-miR-4506	HITS-CLIP	23824327
MIRT653611	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT653610	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT653609	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT653608	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT653607	hsa-miR-3199	HITS-CLIP	23824327
MIRT653606	hsa-miR-8052	HITS-CLIP	23824327
MIRT653605	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT653604	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT454593	hsa-miR-3145-5p	PAR-CLIP	23592263
MIRT454592	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT454591	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT454590	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT454589	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT454588	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT454587	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT454586	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT454585	hsa-miR-5186	PAR-CLIP	23592263
MIRT454584	hsa-miR-4537	PAR-CLIP	23592263
MIRT454583	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT454582	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT454581	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT454580	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1359926	hsa-miR-1913	CLIP-seq
MIRT1359927	hsa-miR-3168	CLIP-seq
MIRT1359928	hsa-miR-3189-5p	CLIP-seq
MIRT1359929	hsa-miR-324-3p	CLIP-seq
MIRT1359930	hsa-miR-4438	CLIP-seq
MIRT1359931	hsa-miR-4758-3p	CLIP-seq
MIRT1359932	hsa-miR-4777-5p	CLIP-seq
MIRT1359933	hsa-miR-518d-5p	CLIP-seq
MIRT1359934	hsa-miR-519b-5p	CLIP-seq
MIRT1359935	hsa-miR-519c-5p	CLIP-seq
MIRT1359936	hsa-miR-520c-5p	CLIP-seq
MIRT1359937	hsa-miR-526a	CLIP-seq
MIRT1359938	hsa-miR-101	CLIP-seq
MIRT1359939	hsa-miR-124	CLIP-seq
MIRT1359940	hsa-miR-1271	CLIP-seq
MIRT1359941	hsa-miR-1301	CLIP-seq
MIRT1359942	hsa-miR-144	CLIP-seq
MIRT1359943	hsa-miR-182	CLIP-seq
MIRT1359944	hsa-miR-2054	CLIP-seq
MIRT1359945	hsa-miR-217	CLIP-seq
MIRT1359946	hsa-miR-2964a-3p	CLIP-seq
MIRT1359947	hsa-miR-297	CLIP-seq
MIRT1359948	hsa-miR-302f	CLIP-seq
MIRT1359949	hsa-miR-3185	CLIP-seq
MIRT1359950	hsa-miR-33a	CLIP-seq
MIRT1359951	hsa-miR-33b	CLIP-seq
MIRT1359952	hsa-miR-3647-3p	CLIP-seq
MIRT1359953	hsa-miR-3671	CLIP-seq
MIRT1359954	hsa-miR-3692	CLIP-seq
MIRT1359955	hsa-miR-380	CLIP-seq
MIRT1359956	hsa-miR-382	CLIP-seq
MIRT1359957	hsa-miR-3922-5p	CLIP-seq
MIRT1359958	hsa-miR-4418	CLIP-seq
MIRT1359959	hsa-miR-4433	CLIP-seq
MIRT1359960	hsa-miR-4455	CLIP-seq
MIRT1359961	hsa-miR-4459	CLIP-seq
MIRT1359962	hsa-miR-4495	CLIP-seq
MIRT1359963	hsa-miR-4635	CLIP-seq
MIRT1359964	hsa-miR-4639-5p	CLIP-seq
MIRT1359965	hsa-miR-4642	CLIP-seq
MIRT1359966	hsa-miR-4643	CLIP-seq
MIRT1359967	hsa-miR-4646-5p	CLIP-seq
MIRT1359968	hsa-miR-4653-3p	CLIP-seq
MIRT1359969	hsa-miR-466	CLIP-seq
MIRT1359970	hsa-miR-4660	CLIP-seq
MIRT1359971	hsa-miR-4709-3p	CLIP-seq
MIRT1359972	hsa-miR-4753-5p	CLIP-seq
MIRT1359973	hsa-miR-4768-3p	CLIP-seq
MIRT1359974	hsa-miR-4775	CLIP-seq
MIRT1359975	hsa-miR-4789-3p	CLIP-seq
MIRT1359976	hsa-miR-499-3p	CLIP-seq
MIRT1359977	hsa-miR-499a-3p	CLIP-seq
MIRT1359978	hsa-miR-5047	CLIP-seq
MIRT1359979	hsa-miR-506	CLIP-seq
MIRT1359980	hsa-miR-509-3-5p	CLIP-seq
MIRT1359981	hsa-miR-509-5p	CLIP-seq
MIRT1359982	hsa-miR-548an	CLIP-seq
MIRT1359983	hsa-miR-567	CLIP-seq
MIRT1359984	hsa-miR-590-3p	CLIP-seq
MIRT1359985	hsa-miR-609	CLIP-seq
MIRT1359986	hsa-miR-96	CLIP-seq
MIRT2106560	hsa-miR-1305	CLIP-seq
MIRT2106561	hsa-miR-2053	CLIP-seq
MIRT2106562	hsa-miR-3152-3p	CLIP-seq
MIRT2106563	hsa-miR-3163	CLIP-seq
MIRT1359953	hsa-miR-3671	CLIP-seq
MIRT1359954	hsa-miR-3692	CLIP-seq
MIRT2106564	hsa-miR-374c	CLIP-seq
MIRT2106565	hsa-miR-4282	CLIP-seq
MIRT2106566	hsa-miR-4735-5p	CLIP-seq
MIRT1359974	hsa-miR-4775	CLIP-seq
MIRT2106567	hsa-miR-545	CLIP-seq
MIRT2106568	hsa-miR-569	CLIP-seq
MIRT2106569	hsa-miR-655	CLIP-seq
MIRT2106560	hsa-miR-1305	CLIP-seq
MIRT2106567	hsa-miR-545	CLIP-seq
MIRT2625085	hsa-miR-3913-3p	CLIP-seq
MIRT1359930	hsa-miR-4438	CLIP-seq
MIRT2625086	hsa-miR-489	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	35156780, 36012204
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20826464, 24828632
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	9096318
GO:0005886	Component	Plasma membrane	TAS	9096318
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	IDA	20826464, 24828632
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	IEA
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	TAS	9096318
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9096318
GO:0035348	Process	Acetyl-CoA transmembrane transport	IDA	20826464, 24828632
GO:0035348	Process	Acetyl-CoA transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	24828632
GO:0055085	Process	Transmembrane transport	TAS

MIM	HGNC	e!Ensembl
603690	95	ENSG00000169359

O00400

Protein name

Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)

Protein function

Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13000	Acatn	74 → 289	Acetyl-coenzyme A transporter 1	Family
PF13000	Acatn	282 → 545	Acetyl-coenzyme A transporter 1	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. {ECO:0000269|PubMed:9096318}.

Sequence

MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGD
FLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFS
LKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALT
VAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADF
CNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKL
LFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILP
LIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYAL
HQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECV
GASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGS
SSWKCKRNN

Sequence length

549

Interactions

View interactions

	KEGG		Reactome
	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways		Transport of vitamins, nucleosides, and related molecules Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

190

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Failure to thrive	Likely pathogenic	rs1266904735	RCV001003585
Global developmental delay	Likely pathogenic	rs1266904735	RCV001003585
Hereditary spastic paraplegia 42	Pathogenic	rs121909484	RCV000006506
Huppke-Brendel syndrome	Pathogenic	rs2109312898, rs281875283, rs863223316, rs1308995894, rs1577482029, rs1577455542, rs1577455897	RCV003771242 RCV000023323 RCV000023326 RCV000845255 RCV000845254 RCV000845257 RCV000845256
Hypothyroidism	Likely pathogenic	rs1266904735	RCV001003585
Spastic paraplegia	Pathogenic	rs2109312898	RCV001382086

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Chronic lymphocytic leukemia/small lymphocytic lymphoma	-	rs77664705	RCV006241798
Familial pancreatic carcinoma	-	rs77664705	RCV006241796
Hereditary spastic paraplegia	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs777143987, rs2109302353, rs1163944109, rs149571533, rs144015992, rs74578336, rs76440173, rs149522913, rs772861569, rs141818342, rs150442784	RCV001847248 RCV001848136 RCV001848137 RCV001848699 RCV001848697 RCV001848698 RCV001848696 RCV001848838 RCV001848847 RCV001848904 RCV001847040
Lymphoma	-	rs77664705	RCV006241797
Nonpapillary renal cell carcinoma	Uncertain significance	rs1225470146	RCV005926793
Ovarian cancer	-	rs77664705	RCV006241795
SLC33A1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1243509793, rs373181939, rs764421862, rs2472953740, rs149571533, rs779467886, rs150651158, rs2108017861, rs1752560080	RCV003420774 RCV003420813 RCV003416809 RCV003400414 RCV004748737 RCV003968926 RCV003932391 RCV003947071 RCV003936819
SLC33A1-related hereditary spastic paraplegia	Uncertain significance	rs1170048779	RCV001797021
Spastic paraplegia, autosomal dominant	Likely benign; Uncertain significance	rs143606890, rs886058103, rs762573505	RCV000297874 RCV000328016 RCV000292319

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cataract	Associate	22243965
Familial apoceruloplasmin deficiency	Associate	22243965
Genetic Diseases Inborn	Associate	22243965
Hearing Loss	Associate	22243965
Hepatolenticular Degeneration	Associate	22243965
Menkes Kinky Hair Syndrome	Associate	22243965
Spastic paraplegia 10 autosomal dominant	Associate	19061983
Spastic Paraplegia 42 Autosomal Dominant	Associate	19061983
Spastic Paraplegia Hereditary	Associate	19061983, 20461110

SLC33A1 (solute carrier family 33 member 1)