Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O00400

- ACATN_HUMAN

UniProt

O00400 - ACATN_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Jul 1997)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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

    ArrayExpressiO00400.
    BgeeiO00400.
    CleanExiHS_SLC33A1.
    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.
    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.

    O00400-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSPTISHKDS SRQRRPGNFS HSLDMKSGPL PPGGWDDSHL DSAGREGDRE    50
    ALLGDTGTGD FLKAPQSFRA ELSSILLLLF LYVLQGIPLG LAGSIPLILQ 100
    SKNVSYTDQA FFSFVFWPFS LKLLWAPLVD AVYVKNFGRR KSWLVPTQYI 150
    LGLFMIYLST QVDRLLGNTD DRTPDVIALT VAFFLFEFLA ATQDIAVDGW 200
    ALTMLSRENV GYASTCNSVG QTAGYFLGNV LFLALESADF CNKYLRFQPQ 250
    PRGIVTLSDF LFFWGTVFLI TTTLVALLKK ENEVSVVKEE TQGITDTYKL 300
    LFAIIKMPAV LTFCLLILTA KIGFSAADAV TGLKLVEEGV PKEHLALLAV 350
    PMVPLQIILP LIISKYTAGP QPLNTFYKAM PYRLLLGLEY ALLVWWTPKV 400
    EHQGGFPIYY YIVVLLSYAL HQVTVYSMYV SIMAFNAKVS DPLIGGTYMT 450
    LLNTVSNLGG NWPSTVALWL VDPLTVKECV GASNQNCRTP DAVELCKKLG 500
    GSCVTALDGY YVESIICVFI GFGWWFFLGP KFKKLQDEGS SSWKCKRNN 549
    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.
    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

    ArrayExpressi O00400.
    Bgeei O00400.
    CleanExi HS_SLC33A1.
    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

    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 1, 2014
    This is version 108 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