Property Summary

NCBI Gene PubMed Count 13
Grant Count 5
R01 Count 1
Funding $375,084.34
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 0.008
osteosarcoma 1.202 0.006
adrenocortical carcinoma -1.215 0.000
pancreatic ductal adenocarcinoma liver m... -1.749 0.003
non-small cell lung cancer 1.062 0.000
active Crohn's disease 1.249 0.007
ovarian cancer 2.100 0.000
pituitary cancer -1.500 0.000
pancreatic cancer -1.200 0.005

Synonym

Accession O00400 B2R5Q2 D3DNK4 AT-1
Symbols AT1
AT-1
ACATN
SPG42
CCHLND

Gene

PANTHER Protein Class (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).
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