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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.1 Publication

GO - Molecular functioni

  1. acetyl-CoA transporter activity Source: ProtInc
  2. solute:proton symporter activity Source: GO_Central

GO - Biological processi

  1. acetyl-CoA transport Source: GOC
  2. proton transport Source: GOC
  3. transmembrane transport Source: Reactome
  4. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_22285. 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:95. SLC33A1.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7474CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei75 – 9521HelicalSequence AnalysisAdd
BLAST
Topological domaini96 – 11318ExtracellularSequence AnalysisAdd
BLAST
Transmembranei114 – 13421HelicalSequence AnalysisAdd
BLAST
Topological domaini135 – 1417CytoplasmicSequence Analysis
Transmembranei142 – 16221HelicalSequence AnalysisAdd
BLAST
Topological domaini163 – 17513ExtracellularSequence AnalysisAdd
BLAST
Transmembranei176 – 19621HelicalSequence AnalysisAdd
BLAST
Topological domaini197 – 21721CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei218 – 23821HelicalSequence AnalysisAdd
BLAST
Topological domaini239 – 25618ExtracellularSequence AnalysisAdd
BLAST
Transmembranei257 – 27721HelicalSequence AnalysisAdd
BLAST
Topological domaini278 – 29922CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei300 – 32021HelicalSequence AnalysisAdd
BLAST
Topological domaini321 – 34323ExtracellularSequence AnalysisAdd
BLAST
Transmembranei344 – 36421HelicalSequence AnalysisAdd
BLAST
Topological domaini365 – 37814CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei379 – 39820HelicalSequence AnalysisAdd
BLAST
Topological domaini399 – 4046ExtracellularSequence Analysis
Transmembranei405 – 42521HelicalSequence AnalysisAdd
BLAST
Topological domaini426 – 50883CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei509 – 52921HelicalSequence AnalysisAdd
BLAST
Topological domaini530 – 54920ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: ProtInc
  2. Golgi membrane Source: Reactome
  3. integral component of plasma membrane Source: ProtInc
  4. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 42, autosomal dominant1 Publication

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131S → R in SPG42. 1 Publication
VAR_054850
Congenital cataracts, hearing loss, and neurodegeneration1 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101A → 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 Publication
Corresponds to variant rs281875283 [ dbSNP | Ensembl ].
VAR_067915

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 549549Acetyl-coenzyme A transporter 1PRO_0000076165Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei42 – 421PhosphoserineBy similarity
Glycosylationi103 – 1031N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO00400.
PaxDbiO00400.
PRIDEiO00400.

PTM databases

PhosphoSiteiO00400.

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

BgeeiO00400.
CleanExiHS_SLC33A1.
ExpressionAtlasiO00400. baseline and differential.
GenevestigatoriO00400.

Organism-specific databases

HPAiHPA042430.

Interactioni

Protein-protein interaction databases

BioGridi114632. 2 interactions.
STRINGi9606.ENSP00000352456.

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

eggNOGiCOG0477.
GeneTreeiENSGT00730000111115.
HOGENOMiHOG000194770.
HOVERGENiHBG052723.
InParanoidiO00400.
KOiK03372.
OMAiQVALYSM.
OrthoDBiEOG747PHW.
PhylomeDBiO00400.
TreeFamiTF300008.

Family and domain databases

InterProiIPR024371. Acetyl-CoA_trnpstr_1.
IPR004752. AmpG_permease/AT-1.
IPR020846. MFS_dom.
[Graphical view]
PANTHERiPTHR12778:SF3. PTHR12778:SF3. 1 hit.
PfamiPF13000. Acatn. 2 hits.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101A → 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 Publication
Corresponds to variant rs281875283 [ dbSNP | Ensembl ].
VAR_067915
Natural varianti113 – 1131S → R in SPG42. 1 Publication
VAR_054850
Natural varianti171 – 1711D → G.
Corresponds to variant rs3804769 [ dbSNP | Ensembl ].
VAR_050631
Natural varianti400 – 4001V → A in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035776

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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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. 2 interactions.
STRINGi9606.ENSP00000352456.

Chemistry

BindingDBiO00400.
GuidetoPHARMACOLOGYi1134.

Protein family/group databases

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

PTM databases

PhosphoSiteiO00400.

Proteomic databases

MaxQBiO00400.
PaxDbiO00400.
PRIDEiO00400.

Protocols and materials databases

DNASUi9197.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359479; ENSP00000352456; ENSG00000169359.
ENST00000392845; ENSP00000376587; ENSG00000169359.
GeneIDi9197.
KEGGihsa:9197.
UCSCiuc003fan.4. human.

Organism-specific databases

CTDi9197.
GeneCardsiGC03M155544.
HGNCiHGNC:95. SLC33A1.
HPAiHPA042430.
MIMi603690. gene.
612539. phenotype.
614482. phenotype.
neXtProtiNX_O00400.
Orphaneti171863. Autosomal dominant spastic paraplegia type 42.
300313. Congenital cataract-hearing loss-severe developmental delay syndrome.
PharmGKBiPA24432.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0477.
GeneTreeiENSGT00730000111115.
HOGENOMiHOG000194770.
HOVERGENiHBG052723.
InParanoidiO00400.
KOiK03372.
OMAiQVALYSM.
OrthoDBiEOG747PHW.
PhylomeDBiO00400.
TreeFamiTF300008.

Enzyme and pathway databases

ReactomeiREACT_22285. Transport of vitamins, nucleosides, and related molecules.

Miscellaneous databases

ChiTaRSiSLC33A1. human.
GenomeRNAii9197.
NextBioi34479.
PROiO00400.
SOURCEiSearch...

Gene expression databases

BgeeiO00400.
CleanExiHS_SLC33A1.
ExpressionAtlasiO00400. baseline and differential.
GenevestigatoriO00400.

Family and domain databases

InterProiIPR024371. Acetyl-CoA_trnpstr_1.
IPR004752. AmpG_permease/AT-1.
IPR020846. MFS_dom.
[Graphical view]
PANTHERiPTHR12778:SF3. PTHR12778:SF3. 1 hit.
PfamiPF13000. Acatn. 2 hits.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
TIGRFAMsiTIGR00901. 2A0125. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated gangliosides: a putative acetyl CoA transporter."
    Kanamori A., Nakayama J., Fukuda M.N., Stallcup W.B., Sasaki K., Fukuda M., Hirabayashi Y.
    Proc. Natl. Acad. Sci. U.S.A. 94:2897-2902(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    Tissue: Melanoma.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-400.
  6. "A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)."
    Lin P., Li J., Liu Q., Mao F., Li J., Qiu R., Hu H., Song Y., Yang Y., Gao G., Yan C., Yang W., Shao C., Gong Y.
    Am. J. Hum. Genet. 83:752-759(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SPG42 ARG-113.
  7. "Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin."
    Huppke P., Brendel C., Kalscheuer V., Korenke G.C., Marquardt I., Freisinger P., Christodoulou J., Hillebrand M., Pitelet G., Wilson C., Gruber-Sedlmayr U., Ullmann R., Haas S., Elpeleg O., Nurnberg G., Nurnberg P., Dad S., Moller L.B., Kaler S.G., Gartner J.
    Am. J. Hum. Genet. 90:61-68(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CCHLND PRO-110, CHARACTERIZATION OF VARIANT CCHLND PRO-110.

Entry informationi

Entry nameiACATN_HUMAN
AccessioniPrimary (citable) accession number: O00400
Secondary accession number(s): B2R5Q2, D3DNK4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: July 1, 1997
Last modified: March 4, 2015
This is version 112 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.