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Acetyl-coenzyme A transporter 1

From Wikipedia, the free encyclopedia
(Redirected fromSLC33A1)
Protein-coding gene in the species Homo sapiens
SLC33A1
Identifiers
AliasesSLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDsOMIM:603690;MGI:1332247;HomoloGene:3476;GeneCards:SLC33A1;OMA:SLC33A1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for SLC33A1
Genomic location for SLC33A1
Band3q25.31Start155,821,024bp[1]
End155,854,456bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for SLC33A1
Genomic location for SLC33A1
Band3|3 E1Start63,840,928bp[2]
End63,872,189bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus epididymis

  • body of pancreas

  • islet of Langerhans

  • Epithelium of choroid plexus

  • sperm

  • endothelial cell

  • seminal vesicula

  • stromal cell of endometrium

  • kidney tubule

  • caput epididymis
Top expressed in
  • lacrimal gland

  • parotid gland

  • seminal vesicula

  • right kidney

  • Epithelium of choroid plexus

  • submandibular gland

  • islet of Langerhans

  • proximal tubule

  • spermatid

  • spermatocyte
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9197

11416

Ensembl

ENSG00000169359

ENSMUSG00000027822

UniProt

O00400

Q99J27

RefSeq (mRNA)

NM_001190992
NM_004733
NM_001363883

NM_001272035
NM_015728
NM_001331067

RefSeq (protein)

NP_001177921
NP_004724
NP_001350812

NP_001258964
NP_001317996
NP_056543

Location (UCSC)Chr 3: 155.82 – 155.85 MbChr 3: 63.84 – 63.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Acetyl-coenzyme A transporter 1 also known assolute carrier family 33 member 1 (SLC33A1) is aprotein that in humans is encoded by the SLC33A1gene.[5]

Function

[edit]

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 10transmembrane domains, and aleucine zipper motif in transmembrane domain III.[5]

Clinical significance

[edit]

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.[5]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000169359 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000027822 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^abc"Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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