Property Summary

NCBI Gene PubMed Count 13
PubMed Score 16.07
PubTator Score 12.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
glioblastoma 1.300 7.9e-03
osteosarcoma 1.202 6.2e-03
adrenocortical carcinoma -1.215 6.2e-08
pancreatic ductal adenocarcinoma liver m... -1.749 3.2e-03
non-small cell lung cancer 1.062 2.0e-13
active Crohn's disease 1.249 7.0e-03
ovarian cancer 2.100 3.2e-05
pituitary cancer -1.500 7.7e-08
pancreatic cancer -1.200 5.4e-03

Protein-protein Interaction (1)

Gene RIF (6)

PMID Text
25402622 SLC33A1 can negatively regulate BMP signaling.
22787145 IRE1/XBP1 controls the induction of autophagy/ERAD(II) during the unfolded protein response by activating the ER membrane transporter SLC33A1/AT-1
22243965 Homozygosity mapping displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in SLC33A1.
20826464 translocates acetyl-CoA into the ER lumen and is essential for cell viability
20461110 Observational study of gene-disease association. (HuGE Navigator)
19061983 A missense mutation in SLC33A1 causes autosomal-dominant spastic paraplegia.

AA Sequence

MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRA      1 - 70
ELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRR     71 - 140
KSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENV    141 - 210
GYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKK    211 - 280
ENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAV    281 - 350
PMVPLQIILPLIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYAL    351 - 420
HQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTP    421 - 490
DAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN               491 - 549
//

Text Mined References (16)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25402622 2015 Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22787145 2012 SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway.
22243965 2012 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
20826464 2010 AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.
20461110 2010 A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
20306460 2010 Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.
19946888 2010 Defining the membrane proteome of NK cells.
19061983 2008 A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12739170 2004 The acetyl-CoA transporter family SLC33.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9096318 1997 Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.