SLC33A1 - solute carrier family 33 member 1 Gene

Homo sapiens

Also known as AT1; AT-1; ACATN; SPG42; CCHLND

Gene ID: 9197 | Gene type: protein coding

About SLC33A1

Cytogenetic location: 3q25.31 Genomic coordinates (GRCh38): 3:155,821,024-155,854,427 (from NCBI)

This gene has 10 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 20.1), duodenum (RPKM 13.3) and 25 other tissues.

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 been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]

SLC33A1 Products(3)

mRNA	Protein	Name
NM_001190992.2	NP_001177921.1	acetyl-coenzyme A transporter 1 isoform 1
NM_001363883.1	NP_001350812.1	acetyl-coenzyme A transporter 1 isoform 2
NM_004733.4	NP_004724.1	acetyl-coenzyme A transporter 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acetyl-CoA transmembrane transporter activity	IDA IDA: Inferred from direct assay	20826464	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	35156780	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	24828632	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in acetyl-CoA transmembrane transport	IDA IDA: Inferred from direct assay	20826464	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	20826464	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC33A1 Protein Structure

Acatn

0
100
200
300
400
500
549 a.a.

Protein Preferred Names

Protein Names

acetyl-coenzyme A transporter 1

solute carrier family 33 (acetyl-CoA transporter), member 1

Related Diseases

Diseases

Alias

Spastic Paraplegia 42, Autosomal Dominant

SPG42	Hereditary Spastic Paraplegia 42
Autosomal Dominant Spastic Paraplegia Type 42	Autosomal Dominant Spastic Paraplegia 42
Paraplegia, Spastic, Type 42, Autosomal Dominant

Congenital Cataracts, Hearing Loss, And Neurodegeneration

Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome	CCHLND
Congenital Cataract-Deafness-Severe Developmental Delay Syndrome	Huppke-Brendel Syndrome
Lethal Neurodegenerative Disorder Due To Copper Transport Defect	Cataracts, Congenital, Hearing Loss, And Neurodegeneration

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1

PEOA1	Autosomal Dominant Progressive External Ophthalmoplegia 1
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 1	Cpeo
Graefe Disease	Mitochondrial Ocular Myopathy
Ocular Myopathy Of Von Graefe-Fuchs	Progressive External Ophthalmoplegia Autosomal Dominant
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1	Kearns-Sayre Syndrome

Spastic Paraplegia 19, Autosomal Dominant

SPG19	Hereditary Spastic Paraplegia 19
Autosomal Dominant Spastic Paraplegia Type 19	Autosomal Dominant Spastic Paraplegia 19
Spastic Paraplegia 19	Spastic Paraplegia-19

Spastic Paraplegia 26, Autosomal Recessive

SPG26	Hereditary Spastic Paraplegia 26
Autosomal Recessive Spastic Paraplegia Type 26	Gm2 Synthase Deficiency
Spastic Paraplegia 26	Autosomal Recessive Spastic Paraplegia 26
Paraplegia, Spastic, Autosomal Recessive, Type 26

Spastic Paraplegia 44, Autosomal Recessive

SPG44	Hereditary Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia 44	Autosomal Recessive Spastic Paraplegia Type 44
Paraplegia, Spastic, Type 44, Autosomal Recessive

Spastic Paraplegia 53, Autosomal Recessive

SPG53	Hereditary Spastic Paraplegia 53
Autosomal Recessive Spastic Paraplegia Type 53	Autosomal Recessive Spastic Paraplegia 53
Paraplegia, Spastic, Type 53, Autosomal Recessive

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Spastic Paraplegia 14, Autosomal Recessive

SPG14	Hereditary Spastic Paraplegia 14
Autosomal Recessive Spastic Paraplegia Type 14	Autosomal Recessive Spastic Paraplegia 14
Spastic Paraplegia 14

Spastic Paraplegia 34, X-Linked

SPG34	Hereditary Spastic Paraplegia 34
X-Linked Spastic Paraplegia Type 34	X-Linked Spastic Paraplegia 34

Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10	Autosomal Recessive Spinocerebellar Ataxia 10
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 10
Spinocerebellar Ataxia, Autosomal Recessive, 10	Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3	Dsmax
X-Linked Distal Spinal Muscular Atrophy Type 3	X-Linked Distal Spinal Muscular Atrophy 3
Atp7a-Related Distal Motor Neuropathy	X-Linked Dhmn3
X-Linked Distal Hereditary Motor Neuropathy Type 3	X-Linked Dsma3
Spinal Muscular Atrophy, Distal, X-Linked Recessive	X-Linked Recessive Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy, X-Linked, 3	DSMAX3
Spinal Muscular Atrophy Distal X-Linked Recessive	Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3

Spastic Paraplegia 13, Autosomal Dominant

SPG13	Hereditary Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia 13	Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia Type 13	Spastic Paraplegia-13
Paraplegia, Spastic, Type 13

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Spastic Ataxia

Spax	Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13191	SLC33A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC33A1	VGNC	VGNC:82507
Mus musculus	SLC33A1	MGD	MGI:1332247
Rattus norvegicus	SLC33A1	RGD	RGD:620653
Bos taurus	SLC33A1	VGNC	VGNC:34816
Macaca mulatta	SLC33A1	VGNC	VGNC:84078
Canis familiaris	SLC33A1	VGNC	VGNC:46357

Name
Email *

	Sorry, but the email address you supplied was invalid.