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O00400 (ACATN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC33A1
Synonyms:ACATN, AT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length549 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides. Ref.1

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Probable Ref.1.

Tissue specificity

Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the SLC33A transporter family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 549549Acetyl-coenzyme A transporter 1
PRO_0000076165

Regions

Topological domain1 – 7474Cytoplasmic Potential
Transmembrane75 – 9521Helical; Potential
Topological domain96 – 11318Extracellular Potential
Transmembrane114 – 13421Helical; Potential
Topological domain135 – 1417Cytoplasmic Potential
Transmembrane142 – 16221Helical; Potential
Topological domain163 – 17513Extracellular Potential
Transmembrane176 – 19621Helical; Potential
Topological domain197 – 21721Cytoplasmic Potential
Transmembrane218 – 23821Helical; Potential
Topological domain239 – 25618Extracellular Potential
Transmembrane257 – 27721Helical; Potential
Topological domain278 – 29922Cytoplasmic Potential
Transmembrane300 – 32021Helical; Potential
Topological domain321 – 34323Extracellular Potential
Transmembrane344 – 36421Helical; Potential
Topological domain365 – 37814Cytoplasmic Potential
Transmembrane379 – 39820Helical; Potential
Topological domain399 – 4046Extracellular Potential
Transmembrane405 – 42521Helical; Potential
Topological domain426 – 50883Cytoplasmic Potential
Transmembrane509 – 52921Helical; Potential
Topological domain530 – 54920Extracellular Potential

Amino acid modifications

Modified residue421Phosphoserine By similarity
Glycosylation1031N-linked (GlcNAc...) Potential

Natural variations

Natural variant1101A → 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. Ref.7
Corresponds to variant rs281875283 [ dbSNP | Ensembl ].
VAR_067915
Natural variant1131S → R in SPG42. Ref.6
VAR_054850
Natural variant1711D → G.
Corresponds to variant rs3804769 [ dbSNP | Ensembl ].
VAR_050631
Natural variant4001V → A in a colorectal cancer sample; somatic mutation. Ref.5
VAR_035776

Sequences

Sequence LengthMass (Da)Tools
O00400 [UniParc].

Last modified July 1, 1997. Version 1.
Checksum: ABDE59DEDEBAA9A5

FASTA54960,909
        10         20         30         40         50         60 
MSPTISHKDS SRQRRPGNFS HSLDMKSGPL PPGGWDDSHL DSAGREGDRE ALLGDTGTGD 

        70         80         90        100        110        120 
FLKAPQSFRA ELSSILLLLF LYVLQGIPLG LAGSIPLILQ SKNVSYTDQA FFSFVFWPFS 

       130        140        150        160        170        180 
LKLLWAPLVD AVYVKNFGRR KSWLVPTQYI LGLFMIYLST QVDRLLGNTD DRTPDVIALT 

       190        200        210        220        230        240 
VAFFLFEFLA ATQDIAVDGW ALTMLSRENV GYASTCNSVG QTAGYFLGNV LFLALESADF 

       250        260        270        280        290        300 
CNKYLRFQPQ PRGIVTLSDF LFFWGTVFLI TTTLVALLKK ENEVSVVKEE TQGITDTYKL 

       310        320        330        340        350        360 
LFAIIKMPAV LTFCLLILTA KIGFSAADAV TGLKLVEEGV PKEHLALLAV PMVPLQIILP 

       370        380        390        400        410        420 
LIISKYTAGP QPLNTFYKAM PYRLLLGLEY ALLVWWTPKV EHQGGFPIYY YIVVLLSYAL 

       430        440        450        460        470        480 
HQVTVYSMYV SIMAFNAKVS DPLIGGTYMT LLNTVSNLGG NWPSTVALWL VDPLTVKECV 

       490        500        510        520        530        540 
GASNQNCRTP DAVELCKKLG GSCVTALDGY YVESIICVFI GFGWWFFLGP KFKKLQDEGS 


SSWKCKRNN 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
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.
[8]Erratum
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. 90:378-378(2012)
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001177921.1. NM_001190992.1.
NP_004724.1. NM_004733.3.
UniGeneHs.478031.

3D structure databases

ProteinModelPortalO00400.
SMRO00400. Positions 201-229.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114632. 2 interactions.
STRING9606.ENSP00000352456.

Chemistry

GuidetoPHARMACOLOGY1134.

Protein family/group databases

TCDB2.A.1.25.1. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteO00400.

Proteomic databases

PaxDbO00400.
PRIDEO00400.

Protocols and materials databases

DNASU9197.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000359479; ENSP00000352456; ENSG00000169359.
ENST00000392845; ENSP00000376587; ENSG00000169359.
GeneID9197.
KEGGhsa:9197.
UCSCuc003fan.4. human.

Organism-specific databases

CTD9197.
GeneCardsGC03M155544.
HGNCHGNC:95. SLC33A1.
HPAHPA042430.
MIM603690. gene.
612539. phenotype.
614482. phenotype.
neXtProtNX_O00400.
Orphanet171863. Autosomal dominant spastic paraplegia type 42.
300313. Congenital cataract-hearing loss-severe developmental delay syndrome.
PharmGKBPA24432.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOGENOMHOG000194770.
HOVERGENHBG052723.
InParanoidO00400.
KOK03372.
OMAYSLKLFW.
OrthoDBEOG747PHW.
PhylomeDBO00400.
TreeFamTF300008.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO00400.
BgeeO00400.
CleanExHS_SLC33A1.
GenevestigatorO00400.

Family and domain databases

InterProIPR024371. Acetyl-CoA_trnpstr_1.
IPR004752. AmpG_permease/AT-1.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PANTHERPTHR12778:SF3. PTHR12778:SF3. 1 hit.
PfamPF13000. Acatn. 2 hits.
[Graphical view]
SUPFAMSSF103473. SSF103473. 2 hits.
TIGRFAMsTIGR00901. 2A0125. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi9197.
NextBio34479.
PROO00400.
SOURCESearch...

Entry information

Entry nameACATN_HUMAN
AccessionPrimary (citable) accession number: O00400
Secondary accession number(s): B2R5Q2, D3DNK4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: July 1, 1997
Last modified: April 16, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM