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Protein

Acetyl-coenzyme A transporter 1

Gene

SLC33A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

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

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-425397. Transport of vitamins, nucleosides, and related molecules.

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

HGNCiHGNC:95. SLC33A1.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: ProtInc
  • Golgi membrane Source: Reactome
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: UniProtKB

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:rs121909484Ensembl.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:rs281875283Ensembl.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.

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.
CleanExiHS_SLC33A1.
ExpressionAtlasiO00400. baseline and differential.
GenevisibleiO00400. HS.

Organism-specific databases

HPAiHPA042430.
HPA060345.

Interactioni

Protein-protein interaction databases

BioGridi114632. 59 interactors.
IntActiO00400. 58 interactors.
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. Acetyl-CoA_trnpstr_1.
IPR004752. AmpG_permease/AT-1.
IPR020846. MFS_dom.
PfamiView protein in Pfam
PF13000. Acatn. 2 hits.
SUPFAMiSSF103473. SSF103473. 2 hits.
TIGRFAMsiTIGR00901. 2A0125. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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:rs281875283Ensembl.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:rs121909484Ensembl.1
Natural variantiVAR_050631171D → G. Corresponds to variant dbSNP:rs3804769Ensembl.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.
GeneIDi9197.
KEGGihsa:9197.
UCSCiuc003fan.6. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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: August 30, 2017
This is version 132 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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families