Details for: SLC5A6

Gene ID: 8884

Symbol: SLC5A6

Ensembl ID: ENSG00000138074

Description: solute carrier family 5 member 6

Associated with

Other Information

Genular Protein ID: 1602389551

Symbol: SC5A6_HUMAN

Name: Solute carrier family 5 member 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10329687

Title: Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization.

PubMed ID: 10329687

DOI: 10.1074/jbc.274.21.14875

PubMed ID: 10334869

Title: Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter.

PubMed ID: 10334869

DOI: 10.1006/abbi.1999.1213

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 15561972

Title: Biotin uptake by human proximal tubular epithelial cells: cellular and molecular aspects.

PubMed ID: 15561972

DOI: 10.1152/ajprenal.00375.2004

PubMed ID: 19211916

Title: Membrane targeting and intracellular trafficking of the human sodium-dependent multivitamin transporter in polarized epithelial cells.

PubMed ID: 19211916

DOI: 10.1152/ajpcell.00396.2008

PubMed ID: 21183659

Title: Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter.

PubMed ID: 21183659

DOI: 10.1152/ajpgi.00530.2010

PubMed ID: 21570947

Title: Role of the putative N-glycosylation and PKC-phosphorylation sites of the human sodium-dependent multivitamin transporter (hSMVT) in function and regulation.

PubMed ID: 21570947

DOI: 10.1016/j.bbamem.2011.04.014

PubMed ID: 20980265

Title: Surprising substrate versatility in SLC5A6: Na+-coupled I- transport by the human Na+/multivitamin transporter (hSMVT).

PubMed ID: 20980265

DOI: 10.1074/jbc.m110.167197

PubMed ID: 22015582

Title: Cys(294) is essential for the function of the human sodium-dependent multivitamin transporter.

PubMed ID: 22015582

DOI: 10.1016/j.bbamem.2011.10.003

PubMed ID: 25971966

Title: Interaction of alpha-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT).

PubMed ID: 25971966

DOI: 10.1074/jbc.m114.622555

PubMed ID: 25809983

Title: Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.

PubMed ID: 25809983

DOI: 10.1111/jnc.13092

PubMed ID: 28052864

Title: Lipopolysaccharide inhibits colonic biotin uptake via interference with membrane expression of its transporter: a role for a casein kinase 2-mediated pathway.

PubMed ID: 28052864

DOI: 10.1152/ajpcell.00300.2016

PubMed ID: 27904971

Title: Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.

PubMed ID: 27904971

DOI: 10.1007/s00439-016-1751-x

PubMed ID: 31754459

Title: Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

PubMed ID: 31754459

DOI: 10.1038/s41525-019-0103-x

PubMed ID: 35013551

Title: Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

PubMed ID: 35013551

DOI: 10.1038/s41431-021-01033-2

Sequence Information:

  • Length: 635
  • Mass: 68642
  • Checksum: 52A6E40DB337134F
  • Sequence:
  • MSVGVSTSAP LSPTSGTSVG MSTFSIMDYV VFVLLLVLSL AIGLYHACRG WGRHTVGELL 
    MADRKMGCLP VALSLLATFQ SAVAILGVPS EIYRFGTQYW FLGCCYFLGL LIPAHIFIPV 
    FYRLHLTSAY EYLELRFNKT VRVCGTVTFI FQMVIYMGVV LYAPSLALNA VTGFDLWLSV 
    LALGIVCTVY TALGGLKAVI WTDVFQTLVM FLGQLAVIIV GSAKVGGLGR VWAVASQHGR 
    ISGFELDPDP FVRHTFWTLA FGGVFMMLSL YGVNQAQVQR YLSSRTEKAA VLSCYAVFPF 
    QQVSLCVGCL IGLVMFAYYQ EYPMSIQQAQ AAPDQFVLYF VMDLLKGLPG LPGLFIACLF 
    SGSLSTISSA FNSLATVTME DLIRPWFPEF SEARAIMLSR GLAFGYGLLC LGMAYISSQM 
    GPVLQAAISI FGMVGGPLLG LFCLGMFFPC ANPPGAVVGL LAGLVMAFWI GIGSIVTSMG 
    SSMPPSPSNG SSFSLPTNLT VATVTTLMPL TTFSKPTGLQ RFYSLSYLWY SAHNSTTVIV 
    VGLIVSLLTG RMRGRSLNPA TIYPVLPKLL SLLPLSCQKR LHCRSYGQDH LDTGLFPEKP 
    RNGVLGDSRD KEAMALDGTA YQGSSSTCIL QETSL

Genular Protein ID: 1449670618

Symbol: Q9HD19_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11955628

Title: Characterization of the 5' regulatory region of the human sodium-dependent multivitamin transporter, hSMVT.

PubMed ID: 11955628

DOI: 10.1016/S0167-4781(02)00226-9

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 27
  • Mass: 2620
  • Checksum: 27CDCC338BD55E9D
  • Sequence:
  • MSVGVSTSAP LSPTSGTSVG MSTFSIM

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.