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O00400

- ACATN_HUMAN

UniProt

O00400 - ACATN_HUMAN

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Protein

Acetyl-coenzyme A transporter 1

Gene

SLC33A1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Biological processi

  1. acetyl-CoA transport Source: GOC
  2. cell death Source: UniProtKB-KW
  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

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 dominant (SPG42) [MIM:612539]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131S → R in SPG42. 1 Publication
VAR_054850
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7474CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini96 – 11318ExtracellularSequence AnalysisAdd
BLAST
Topological domaini135 – 1417CytoplasmicSequence Analysis
Topological domaini163 – 17513ExtracellularSequence AnalysisAdd
BLAST
Topological domaini197 – 21721CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini239 – 25618ExtracellularSequence AnalysisAdd
BLAST
Topological domaini278 – 29922CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini321 – 34323ExtracellularSequence AnalysisAdd
BLAST
Topological domaini365 – 37814CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini399 – 4046ExtracellularSequence Analysis
Topological domaini426 – 50883CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini530 – 54920ExtracellularSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei75 – 9521HelicalSequence AnalysisAdd
BLAST
Transmembranei114 – 13421HelicalSequence AnalysisAdd
BLAST
Transmembranei142 – 16221HelicalSequence AnalysisAdd
BLAST
Transmembranei176 – 19621HelicalSequence AnalysisAdd
BLAST
Transmembranei218 – 23821HelicalSequence AnalysisAdd
BLAST
Transmembranei257 – 27721HelicalSequence AnalysisAdd
BLAST
Transmembranei300 – 32021HelicalSequence AnalysisAdd
BLAST
Transmembranei344 – 36421HelicalSequence AnalysisAdd
BLAST
Transmembranei379 – 39820HelicalSequence AnalysisAdd
BLAST
Transmembranei405 – 42521HelicalSequence AnalysisAdd
BLAST
Transmembranei509 – 52921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC33A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR024371. Acetyl-CoA_trnpstr_1.
IPR004752. AmpG_permease/AT-1.
IPR016196. MFS_dom_general_subst_transpt.
[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 [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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3173.1.
RefSeqi NP_001177921.1. NM_001190992.1.
NP_004724.1. NM_004733.3.
UniGenei Hs.478031.

3D structure databases

ProteinModelPortali O00400.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114632. 2 interactions.
STRINGi 9606.ENSP00000352456.

Chemistry

GuidetoPHARMACOLOGYi 1134.

Protein family/group databases

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

PTM databases

PhosphoSitei O00400.

Proteomic databases

MaxQBi O00400.
PaxDbi O00400.
PRIDEi O00400.

Protocols and materials databases

DNASUi 9197.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359479 ; ENSP00000352456 ; ENSG00000169359 .
ENST00000392845 ; ENSP00000376587 ; ENSG00000169359 .
GeneIDi 9197.
KEGGi hsa:9197.
UCSCi uc003fan.4. human.

Organism-specific databases

CTDi 9197.
GeneCardsi GC03M155544.
HGNCi HGNC:95. SLC33A1.
HPAi HPA042430.
MIMi 603690. gene.
612539. phenotype.
614482. phenotype.
neXtProti NX_O00400.
Orphaneti 171863. Autosomal dominant spastic paraplegia type 42.
300313. Congenital cataract-hearing loss-severe developmental delay syndrome.
PharmGKBi PA24432.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0477.
GeneTreei ENSGT00730000111115.
HOGENOMi HOG000194770.
HOVERGENi HBG052723.
InParanoidi O00400.
KOi K03372.
OMAi YSLKLFW.
OrthoDBi EOG747PHW.
PhylomeDBi O00400.
TreeFami TF300008.

Enzyme and pathway databases

Reactomei REACT_22285. Transport of vitamins, nucleosides, and related molecules.

Miscellaneous databases

GenomeRNAii 9197.
NextBioi 34479.
PROi O00400.
SOURCEi Search...

Gene expression databases

Bgeei O00400.
CleanExi HS_SLC33A1.
ExpressionAtlasi O00400. baseline and differential.
Genevestigatori O00400.

Family and domain databases

InterProi IPR024371. Acetyl-CoA_trnpstr_1.
IPR004752. AmpG_permease/AT-1.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
PANTHERi PTHR12778:SF3. PTHR12778:SF3. 1 hit.
Pfami PF13000. Acatn. 2 hits.
[Graphical view ]
SUPFAMi SSF103473. SSF103473. 2 hits.
TIGRFAMsi TIGR00901. 2A0125. 1 hit.
ProtoNeti Search...

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: October 29, 2014
This is version 109 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