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SLC33A1 solute carrier family 33 member 1 [ Homo sapiens (human) ]

Gene ID: 9197, updated on 14-Apr-2016
Official Symbol
SLC33A1provided by HGNC
Official Full Name
solute carrier family 33 member 1provided by HGNC
Primary source
HGNC:HGNC:95
See related
Ensembl:ENSG00000169359 HPRD:04734; MIM:603690; Vega:OTTHUMG00000158481
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AT1; AT-1; ACATN; SPG42; CCHLND
Summary
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
Orthologs
Location:
3q25.31
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (155826511..155854459, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155544300..155572248, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 24 Neighboring gene chromosome 3 open reading frame 33 Neighboring gene uncharacterized LOC105374174 Neighboring gene guanine monophosphate synthase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetyl-CoA transporter activity TAS
Traceable Author Statement
more info
 
solute:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA transport IEA
Inferred from Electronic Annotation
more info
 
acetyl-CoA transport TAS
Traceable Author Statement
more info
PubMed 
proton transport IBA
Inferred from Biological aspect of Ancestor
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
acetyl-coenzyme A transporter 1
Names
solute carrier family 33 (acetyl-CoA transporter), member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023365.1 RefSeqGene

    Range
    5001..32949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190992.1NP_001177921.1  acetyl-coenzyme A transporter 1

    See identical proteins and their annotated locations for NP_001177921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC104472, BC014416
    Consensus CDS
    CCDS3173.1
    UniProtKB/Swiss-Prot
    O00400
    Related
    ENSP00000352456, OTTHUMP00000212981, ENST00000359479, OTTHUMT00000351129
    Conserved Domains (1) summary
    TIGR00901
    Location:86458
    2A0125; AmpG-like permease
  2. NM_004733.3NP_004724.1  acetyl-coenzyme A transporter 1

    See identical proteins and their annotated locations for NP_004724.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC104472, D88152
    Consensus CDS
    CCDS3173.1
    UniProtKB/Swiss-Prot
    O00400
    Related
    ENSP00000376587, OTTHUMP00000212982, ENST00000392845, OTTHUMT00000351130
    Conserved Domains (1) summary
    TIGR00901
    Location:86458
    2A0125; AmpG-like permease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    155826511..155854459 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513311.1XP_011511613.1  

    Conserved Domains (1) summary
    cl21472
    Location:86357
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  2. XM_011513312.1XP_011511614.1  

    Conserved Domains (1) summary
    cl21472
    Location:86384
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  3. XM_006713822.2XP_006713885.1  

    Conserved Domains (1) summary
    cl21472
    Location:86322
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    155507626..155535526 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)