SLC33A1 | ENSG00000169359 | NCBI 9197

Details for: SLC33A1

Gene ID: 9197

Symbol: SLC33A1

Ensembl ID: ENSG00000169359

Description: solute carrier family 33 member 1

Associated with

Defective slc33a1 causes spastic paraplegia 42 (spg42)
(R-HSA-5619061)
Disease
(R-HSA-1643685)
Disorders of transmembrane transporters
(R-HSA-5619115)
Slc-mediated transmembrane transport
(R-HSA-425407)
Slc transporter disorders
(R-HSA-5619102)
Transport of small molecules
(R-HSA-382551)
Transport of vitamins, nucleosides, and related molecules
(R-HSA-425397)
Acetyl-coa transmembrane transport
(GO:0035348)
Acetyl-coa transmembrane transporter activity
(GO:0008521)
Endoplasmic reticulum membrane
(GO:0005789)
Golgi membrane
(GO:0000139)
Membrane
(GO:0016020)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Transmembrane transport
(GO:0055085)

Other Information

Proteins

Solute carrier family 33 member 1

Genular Protein ID: 3929295095

Symbol: ACATN_HUMAN

Name: Solute carrier family 33 member 1

UniProtKB Accession Codes:

O00400 B2R5Q2 D3DNK4

Database IDs:

Citations:

PubMed ID: 9096318

Title: 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.

PubMed ID: 9096318

DOI: 10.1073/pnas.94.7.2897

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20826464

Title: AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.

PubMed ID: 20826464

DOI: 10.1242/jcs.068841

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25402622

Title: Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.

PubMed ID: 25402622

DOI: 10.1002/humu.22732

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19061983

Title: A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

PubMed ID: 19061983

DOI: 10.1016/j.ajhg.2008.11.003

PubMed ID: 22243965

Title: Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

PubMed ID: 22243965

DOI: 10.1016/j.ajhg.2011.11.030

PubMed ID: 24828632

Title: Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer.

PubMed ID: 24828632

DOI: 10.1523/jneurosci.0077-14.2014

Sequence Information:

Length: 549
Mass: 60909
Checksum: ABDE59DEDEBAA9A5
Sequence:

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

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SLC33A1

Associated with

Other Information

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. PubMed ID: 9096318

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability. PubMed ID: 20826464

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Identification and Functional Analysis of a SLC33A1: c.339T&gt;G (p.Ser113Arg) Variant in the Original SPG42 Family. PubMed ID: 25402622

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

The consensus coding sequences of human breast and colorectal cancers. PubMed ID: 16959974

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). PubMed ID: 19061983

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. PubMed ID: 22243965

Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer. PubMed ID: 24828632