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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.1.25.1 the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC33A1
Synonyms:ACATN, AT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000169359.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:95 SLC33A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603690 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00400

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 74CytoplasmicSequence analysisAdd BLAST74
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
9197

MalaCards human disease database

More...
MalaCardsi
SLC33A1
MIMi612539 phenotype
614482 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169359

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
171863 Autosomal dominant spastic paraplegia type 42
300313 Congenital cataract-hearing loss-severe developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24432

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3638338

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC33A1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000761651 – 549Acetyl-coenzyme A transporter 1Add BLAST549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei22PhosphoserineCombined sources1
Modified residuei42PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi103N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O00400

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O00400

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O00400

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O00400

PeptideAtlas

More...
PeptideAtlasi
O00400

PRoteomics IDEntifications database

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PRIDEi
O00400

ProteomicsDB human proteome resource

More...
ProteomicsDBi
47866

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O00400

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O00400

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169359 Expressed in 219 organ(s), highest expression level in body of pancreas

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC33A1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O00400 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O00400 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042430
HPA060345

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114632, 59 interactors

Protein interaction database and analysis system

More...
IntActi
O00400, 58 interactors

Molecular INTeraction database

More...
MINTi
O00400

STRING: functional protein association networks

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STRINGi
9606.ENSP00000352456

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O00400

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O00400

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SLC33A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3574 Eukaryota
COG0477 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154019

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000194770

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052723

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00400

KEGG Orthology (KO)

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KOi
K03372

Identification of Orthologs from Complete Genome Data

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OMAi
LWFWGIT

Database of Orthologous Groups

More...
OrthoDBi
1300300at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00400

TreeFam database of animal gene trees

More...
TreeFami
TF300008

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024371 AcetylCoA_trans_1-like
IPR004752 AmpG_permease/AT-1
IPR036259 MFS_trans_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12778 PTHR12778, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13000 Acatn, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iABDE59DEDEBAA9A5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C562H7C562_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
269Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C532H7C532_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
335Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YF57A0A2R8YF57_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
447Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5I5A0A2R8Y5I5_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
336Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEX5A0A2R8YEX5_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
265Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y359A0A2R8Y359_HUMAN
Acetyl-coenzyme A transporter 1
SLC33A1
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3173.1

NCBI Reference Sequences

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RefSeqi
NP_001177921.1, NM_001190992.1
NP_004724.1, NM_004733.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.478031

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000359479; ENSP00000352456; ENSG00000169359
ENST00000392845; ENSP00000376587; ENSG00000169359
ENST00000643144; ENSP00000496241; ENSG00000169359

Database of genes from NCBI RefSeq genomes

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GeneIDi
9197

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9197

UCSC genome browser

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UCSCi
uc003fan.6 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
jPOSTiO00400
MaxQBiO00400
PaxDbiO00400
PeptideAtlasiO00400
PRIDEiO00400
ProteomicsDBi47866

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9197
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9197
DisGeNETi9197
EuPathDBiHostDB:ENSG00000169359.13

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC33A1
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3574 Eukaryota
COG0477 LUCA
GeneTreeiENSGT00940000154019
HOGENOMiHOG000194770
HOVERGENiHBG052723
InParanoidiO00400
KOiK03372
OMAiLWFWGIT
OrthoDBi1300300at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC33A1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9197

Protein Ontology

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PROi
PR:O00400

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACATN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00400
Secondary accession number(s): B2R5Q2, D3DNK4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: July 1, 1997
Last modified: January 16, 2019
This is version 143 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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