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Protein

Acetyl-coenzyme A transporter 1

Gene

SLC33A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).2 Publications

GO - Molecular functioni

  • acetyl-CoA transmembrane transporter activity Source: Reactome
  • solute:proton symporter activity Source: GO_Central

GO - Biological processi

  • BMP signaling pathway Source: UniProtKB
  • SMAD protein signal transduction Source: UniProtKB
  • transmembrane transport Source: Reactome

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-425397 Transport of vitamins, nucleosides, and related molecules
R-HSA-5619061 Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

Protein family/group databases

TCDBi2.A.1.25.1 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Acetyl-coenzyme A transporter 1
Short name:
AT-1
Short name:
Acetyl-CoA transporter 1
Alternative name(s):
Solute carrier family 33 member 1
Gene namesi
Name:SLC33A1
Synonyms:ACATN, AT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000169359.13
HGNCiHGNC:95 SLC33A1
MIMi603690 gene
neXtProtiNX_O00400

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 74CytoplasmicSequence analysisAdd BLAST74
Transmembranei75 – 95HelicalSequence analysisAdd BLAST21
Topological domaini96 – 113ExtracellularSequence analysisAdd BLAST18
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 141CytoplasmicSequence analysis7
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Topological domaini163 – 175ExtracellularSequence analysisAdd BLAST13
Transmembranei176 – 196HelicalSequence analysisAdd BLAST21
Topological domaini197 – 217CytoplasmicSequence analysisAdd BLAST21
Transmembranei218 – 238HelicalSequence analysisAdd BLAST21
Topological domaini239 – 256ExtracellularSequence analysisAdd BLAST18
Transmembranei257 – 277HelicalSequence analysisAdd BLAST21
Topological domaini278 – 299CytoplasmicSequence analysisAdd BLAST22
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 343ExtracellularSequence analysisAdd BLAST23
Transmembranei344 – 364HelicalSequence analysisAdd BLAST21
Topological domaini365 – 378CytoplasmicSequence analysisAdd BLAST14
Transmembranei379 – 398HelicalSequence analysisAdd BLAST20
Topological domaini399 – 404ExtracellularSequence analysis6
Transmembranei405 – 425HelicalSequence analysisAdd BLAST21
Topological domaini426 – 508CytoplasmicSequence analysisAdd BLAST83
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 549ExtracellularSequence analysisAdd BLAST20

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 42, autosomal dominant (SPG42)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:612539
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054850113S → R in SPG42; significant increase in the amount of nuclear phosphorylated SMAD1-SMAD5-SMAD8 protein complex; marked increase of the BMPR1A protein level; no change for BMPR2 protein level; decrease of BMPR1A degradation. 2 PublicationsCorresponds to variant dbSNP:rs121909484EnsemblClinVar.1
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.
See also OMIM:614482
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067915110A → P in CCHLND; the mutant protein is present at normal levels in patient fibroblasts; the mutant protein fails to localize normally to the Golgi apparatus and instead shows punctate staining in the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs281875283EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi9197
MalaCardsiSLC33A1
MIMi612539 phenotype
614482 phenotype
OpenTargetsiENSG00000169359
Orphaneti171863 Autosomal dominant spastic paraplegia type 42
300313 Congenital cataract-hearing loss-severe developmental delay syndrome
PharmGKBiPA24432

Chemistry databases

ChEMBLiCHEMBL3638338

Polymorphism and mutation databases

BioMutaiSLC33A1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000761651 – 549Acetyl-coenzyme A transporter 1Add BLAST549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22PhosphoserineCombined sources1
Modified residuei42PhosphoserineBy similarity1
Glycosylationi103N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiO00400
MaxQBiO00400
PaxDbiO00400
PeptideAtlasiO00400
PRIDEiO00400
ProteomicsDBi47866

PTM databases

iPTMnetiO00400
PhosphoSitePlusiO00400

Expressioni

Tissue specificityi

Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.1 Publication

Gene expression databases

BgeeiENSG00000169359 Expressed in 219 organ(s), highest expression level in body of pancreas
CleanExiHS_SLC33A1
ExpressionAtlasiO00400 baseline and differential
GenevisibleiO00400 HS

Organism-specific databases

HPAiHPA042430
HPA060345

Interactioni

Protein-protein interaction databases

BioGridi114632, 59 interactors
IntActiO00400, 58 interactors
MINTiO00400
STRINGi9606.ENSP00000352456

Chemistry databases

BindingDBiO00400

Structurei

3D structure databases

ProteinModelPortaliO00400
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC33A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3574 Eukaryota
COG0477 LUCA
GeneTreeiENSGT00730000111115
HOGENOMiHOG000194770
HOVERGENiHBG052723
InParanoidiO00400
KOiK03372
OMAiLWFWGIT
OrthoDBiEOG091G06Y7
PhylomeDBiO00400
TreeFamiTF300008

Family and domain databases

InterProiView protein in InterPro
IPR024371 AcetylCoA_trans_1-like
IPR004752 AmpG_permease/AT-1
IPR036259 MFS_trans_sf
PANTHERiPTHR12778 PTHR12778, 1 hit
PfamiView protein in Pfam
PF13000 Acatn, 2 hits
SUPFAMiSSF103473 SSF103473, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

O00400-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSPTISHKDS SRQRRPGNFS HSLDMKSGPL PPGGWDDSHL DSAGREGDRE
60 70 80 90 100
ALLGDTGTGD FLKAPQSFRA ELSSILLLLF LYVLQGIPLG LAGSIPLILQ
110 120 130 140 150
SKNVSYTDQA FFSFVFWPFS LKLLWAPLVD AVYVKNFGRR KSWLVPTQYI
160 170 180 190 200
LGLFMIYLST QVDRLLGNTD DRTPDVIALT VAFFLFEFLA ATQDIAVDGW
210 220 230 240 250
ALTMLSRENV GYASTCNSVG QTAGYFLGNV LFLALESADF CNKYLRFQPQ
260 270 280 290 300
PRGIVTLSDF LFFWGTVFLI TTTLVALLKK ENEVSVVKEE TQGITDTYKL
310 320 330 340 350
LFAIIKMPAV LTFCLLILTA KIGFSAADAV TGLKLVEEGV PKEHLALLAV
360 370 380 390 400
PMVPLQIILP LIISKYTAGP QPLNTFYKAM PYRLLLGLEY ALLVWWTPKV
410 420 430 440 450
EHQGGFPIYY YIVVLLSYAL HQVTVYSMYV SIMAFNAKVS DPLIGGTYMT
460 470 480 490 500
LLNTVSNLGG NWPSTVALWL VDPLTVKECV GASNQNCRTP DAVELCKKLG
510 520 530 540
GSCVTALDGY YVESIICVFI GFGWWFFLGP KFKKLQDEGS SSWKCKRNN
Length:549
Mass (Da):60,909
Last modified:July 1, 1997 - v1
Checksum:iABDE59DEDEBAA9A5
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C577H7C577_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
185Annotation score:
H7C562H7C562_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
269Annotation score:
H7C532H7C532_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
335Annotation score:
A0A2R8YF57A0A2R8YF57_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
447Annotation score:
A0A2R8Y359A0A2R8Y359_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
267Annotation score:
A0A2R8Y5I5A0A2R8Y5I5_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
336Annotation score:
A0A2R8YEX5A0A2R8YEX5_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
265Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067915110A → P in CCHLND; the mutant protein is present at normal levels in patient fibroblasts; the mutant protein fails to localize normally to the Golgi apparatus and instead shows punctate staining in the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs281875283EnsemblClinVar.1
Natural variantiVAR_054850113S → R in SPG42; significant increase in the amount of nuclear phosphorylated SMAD1-SMAD5-SMAD8 protein complex; marked increase of the BMPR1A protein level; no change for BMPR2 protein level; decrease of BMPR1A degradation. 2 PublicationsCorresponds to variant dbSNP:rs121909484EnsemblClinVar.1
Natural variantiVAR_050631171D → G. Corresponds to variant dbSNP:rs3804769EnsemblClinVar.1
Natural variantiVAR_035776400V → A in a colorectal cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D88152 mRNA Translation: BAA20072.1
AK312268 mRNA Translation: BAG35199.1
CH471052 Genomic DNA Translation: EAW78743.1
CH471052 Genomic DNA Translation: EAW78744.1
BC014416 mRNA Translation: AAH14416.1
CCDSiCCDS3173.1
RefSeqiNP_001177921.1, NM_001190992.1
NP_004724.1, NM_004733.3
UniGeneiHs.478031

Genome annotation databases

EnsembliENST00000359479; ENSP00000352456; ENSG00000169359
ENST00000392845; ENSP00000376587; ENSG00000169359
ENST00000643144; ENSP00000496241; ENSG00000169359
GeneIDi9197
KEGGihsa:9197
UCSCiuc003fan.6 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mendelian genes solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D88152 mRNA Translation: BAA20072.1
AK312268 mRNA Translation: BAG35199.1
CH471052 Genomic DNA Translation: EAW78743.1
CH471052 Genomic DNA Translation: EAW78744.1
BC014416 mRNA Translation: AAH14416.1
CCDSiCCDS3173.1
RefSeqiNP_001177921.1, NM_001190992.1
NP_004724.1, NM_004733.3
UniGeneiHs.478031

3D structure databases

ProteinModelPortaliO00400
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114632, 59 interactors
IntActiO00400, 58 interactors
MINTiO00400
STRINGi9606.ENSP00000352456

Chemistry databases

BindingDBiO00400
ChEMBLiCHEMBL3638338

Protein family/group databases

TCDBi2.A.1.25.1 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiO00400
PhosphoSitePlusiO00400

Polymorphism and mutation databases

BioMutaiSLC33A1

Proteomic databases

EPDiO00400
MaxQBiO00400
PaxDbiO00400
PeptideAtlasiO00400
PRIDEiO00400
ProteomicsDBi47866

Protocols and materials databases

DNASUi9197
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359479; ENSP00000352456; ENSG00000169359
ENST00000392845; ENSP00000376587; ENSG00000169359
ENST00000643144; ENSP00000496241; ENSG00000169359
GeneIDi9197
KEGGihsa:9197
UCSCiuc003fan.6 human

Organism-specific databases

CTDi9197
DisGeNETi9197
EuPathDBiHostDB:ENSG00000169359.13
GeneCardsiSLC33A1
HGNCiHGNC:95 SLC33A1
HPAiHPA042430
HPA060345
MalaCardsiSLC33A1
MIMi603690 gene
612539 phenotype
614482 phenotype
neXtProtiNX_O00400
OpenTargetsiENSG00000169359
Orphaneti171863 Autosomal dominant spastic paraplegia type 42
300313 Congenital cataract-hearing loss-severe developmental delay syndrome
PharmGKBiPA24432
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3574 Eukaryota
COG0477 LUCA
GeneTreeiENSGT00730000111115
HOGENOMiHOG000194770
HOVERGENiHBG052723
InParanoidiO00400
KOiK03372
OMAiLWFWGIT
OrthoDBiEOG091G06Y7
PhylomeDBiO00400
TreeFamiTF300008

Enzyme and pathway databases

ReactomeiR-HSA-425397 Transport of vitamins, nucleosides, and related molecules
R-HSA-5619061 Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

Miscellaneous databases

ChiTaRSiSLC33A1 human
GenomeRNAii9197
PROiPR:O00400
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169359 Expressed in 219 organ(s), highest expression level in body of pancreas
CleanExiHS_SLC33A1
ExpressionAtlasiO00400 baseline and differential
GenevisibleiO00400 HS

Family and domain databases

InterProiView protein in InterPro
IPR024371 AcetylCoA_trans_1-like
IPR004752 AmpG_permease/AT-1
IPR036259 MFS_trans_sf
PANTHERiPTHR12778 PTHR12778, 1 hit
PfamiView protein in Pfam
PF13000 Acatn, 2 hits
SUPFAMiSSF103473 SSF103473, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiACATN_HUMAN
AccessioniPrimary (citable) accession number: O00400
Secondary accession number(s): B2R5Q2, D3DNK4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: July 1, 1997
Last modified: November 7, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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