O00400 (ACATN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SLC33A1
Synonyms:	ACATN, AT1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	549 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]. Spastic paraplegia is 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. Ref.7
Sequence similarities	Belongs to the SLC33A transporter family.

Ontologies

Keywords
Biological process	Transport
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Hereditary spastic paraplegia Neurodegeneration
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell death Inferred from electronic annotation. Source: UniProtKB-KW transmembrane transport Traceable author statement. Source: Reactome
Cellular component	Golgi membrane Traceable author statement. Source: Reactome endoplasmic reticulum membrane Traceable author statement. Source: ProtInc integral to plasma membrane Traceable author statement. Source: ProtInc membrane fraction Traceable author statement. Source: ProtInc
Molecular function	acetyl-CoA transporter activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 549	549	Acetyl-coenzyme A transporter 1		PRO_0000076165
Regions
	Topological domain	1 – 74	74	Cytoplasmic Potential
	Transmembrane	75 – 95	21	Helical; Potential
	Topological domain	96 – 113	18	Extracellular Potential
	Transmembrane	114 – 134	21	Helical; Potential
	Topological domain	135 – 141	7	Cytoplasmic Potential
	Transmembrane	142 – 162	21	Helical; Potential
	Topological domain	163 – 175	13	Extracellular Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Topological domain	197 – 217	21	Cytoplasmic Potential
	Transmembrane	218 – 238	21	Helical; Potential
	Topological domain	239 – 256	18	Extracellular Potential
	Transmembrane	257 – 277	21	Helical; Potential
	Topological domain	278 – 299	22	Cytoplasmic Potential
	Transmembrane	300 – 320	21	Helical; Potential
	Topological domain	321 – 343	23	Extracellular Potential
	Transmembrane	344 – 364	21	Helical; Potential
	Topological domain	365 – 378	14	Cytoplasmic Potential
	Transmembrane	379 – 398	20	Helical; Potential
	Topological domain	399 – 404	6	Extracellular Potential
	Transmembrane	405 – 425	21	Helical; Potential
	Topological domain	426 – 508	83	Cytoplasmic Potential
	Transmembrane	509 – 529	21	Helical; Potential
	Topological domain	530 – 549	20	Extracellular Potential
Amino acid modifications
	Modified residue	2	1	Phosphoserine Ref.5
	Modified residue	42	1	Phosphoserine By similarity
	Glycosylation	103	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	113	1	S → R in SPG42. Ref.7		VAR_054850
	Natural variant	171	1	D → G. Corresponds to variant rs3804769 [ dbSNP | Ensembl ].		VAR_050631
	Natural variant	400	1	V → A in a colorectal cancer sample; somatic mutation. Ref.6		VAR_035776

Sequences

	Sequence		Length	Mass (Da)
	O00400 [UniParc]. Last modified July 1, 1997. Version 1. Checksum: ABDE59DEDEBAA9A5	FASTA	549	60,909
	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

References

	« Hide 'large scale' referencesShow '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: 9096318] [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: 14702039] [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. , 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[5]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"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. , 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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-400.
[7]	"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: 19061983] [Abstract] Cited for: VARIANT SPG42 ARG-113.
+	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.
IPI	IPI00006205.
RefSeq	NP_001177921.1. NM_001190992.1. NP_004724.1. NM_004733.3.
UniGene	Hs.478031.
3D structure databases
ProteinModelPortal	O00400.
ModBase	Search...
Protein-protein interaction databases
STRING	O00400.
Protein family/group databases
TCDB	2.A.1.25.1. major facilitator superfamily (MFS).
PTM databases
PhosphoSite	O00400.
Proteomic databases
PRIDE	O00400.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359479; ENSP00000352456; ENSG00000169359. ENST00000392845; ENSP00000376587; ENSG00000169359.
GeneID	9197.
KEGG	hsa:9197.
UCSC	uc003fan.2. human.
Organism-specific databases
CTD	9197.
GeneCards	GC03M155544.
H-InvDB	HIX0200538.
HGNC	HGNC:95. SLC33A1.
HPA	HPA042430.
MIM	603690. gene. 612539. phenotype.
neXtProt	NX_O00400.
Orphanet	171863. Autosomal dominant spastic paraplegia type 42.
PharmGKB	PA24432.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10485.
GeneTree	ENSGT00530000063590.
HOGENOM	HBG627011.
HOVERGEN	HBG052723.
InParanoid	O00400.
OMA	VGGTYMT.
OrthoDB	EOG44J2J2.
PhylomeDB	O00400.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	O00400.
Bgee	O00400.
CleanEx	HS_SLC33A1.
Genevestigator	O00400.
GermOnline	ENSG00000169359. Homo sapiens.
Family and domain databases
InterPro	IPR024371. Acetyl-CoA_trnpstr_1. IPR004752. AmpG_permease. IPR016196. MFS_dom_general_subst_transpt. [Graphical view]
KO	K03372.
PANTHER	PTHR12778:SF3. PTHR12778:SF3. 1 hit.
Pfam	PF13000. Acatn. 2 hits. [Graphical view]
SUPFAM	SSF103473. MFS_gen_substrate_transporter. 1 hit.
TIGRFAMs	TIGR00901. 2A0125. 1 hit.
ProtoNet	Search...
Other
NextBio	34479.
SOURCE	Search...

Entry information

Entry name

ACATN_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.