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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC44A5 Gene

protein-coding   GIFtS: 46
GCID: GC01M075667

Solute Carrier Family 44, Member 5

Alzheimer's & Parkinson's Diseases Congress
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 44, Member 51 2
CTL52 3
Choline Transporter-Like Protein 52
Solute Carrier Family 44 Member 53

External Ids:    HGNC: 285241   Entrez Gene: 2049622   Ensembl: ENSG000001379687   UniProtKB: Q8NCS73   

Export aliases for SLC44A5 gene to outside databases

Previous GC identifers: GC01M075385 GC01M073802


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SLC44A5 Gene: 
SLC44A5 (solute carrier family 44, member 5) is a protein-coding gene. Diseases associated with SLC44A5 include alzheimer's disease, and among its related super-pathways are Transmembrane transport of small molecules and Glycerophospholipid biosynthesis. An important paralog of this gene is SLC44A1.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC44A5 gene promoter:
         c-Fos   Max1   LHX3b/Lhx3b   JunB   FosB   Fra-1   JunD   LHX3a/Lhx3a   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC44A5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC44A5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC44A5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31.1   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31.1

SLC44A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC44A5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M075667:  view genomic region     (about GC identifiers)

Start:
75,667,816 bp from pter      End:
76,076,801 bp from pter
Size:
408,986 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CTL5_HUMAN, Q8NCS7 (See protein sequence)
Recommended Name: Choline transporter-like protein 5  
Size: 719 amino acids; 81664 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=BAC03655.1; Type=Erroneous initiation;
Secondary accessions: B5MCU3 Q4G0K0 Q8NA44 Q8NB86
Alternative splicing: 3 isoforms:  Q8NCS7-1   Q8NCS7-2   Q8NCS7-3   

Explore the universe of human proteins at neXtProt for SLC44A5: NX_Q8NCS7

Explore proteomics data for SLC44A5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NCS7

  • SLC44A5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC44A5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001123530.1  NP_689910.2  

    ENSEMBL proteins: 
     ENSP00000359896   ENSP00000359892   ENSP00000443090  
    Reactome Protein details: Q8NCS7
    Human Recombinant Protein Products for SLC44A5: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    SLC44A5 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Choline transporter-like 5 
    SLC44 family of choline transporters

    1 InterPro protein domain:
     IPR007603 Choline_transptr-like

    Graphical View of Domain Structure for InterPro Entry Q8NCS7

    ProtoNet protein and cluster: Q8NCS7

    UniProtKB/Swiss-Prot: CTL5_HUMAN, Q8NCS7
    Similarity: Belongs to the CTL (choline transporter-like) family


    SLC44A5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc44a5):
     behavior/neurological  skeleton 

    SLC44A5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC44A5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC44A5 
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    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC44A5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Phospholipid metabolism0.64
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Amine compound SLC transporters
    Amine compound SLC transporters0.63
    5Synthesis of PE
    Synthesis of PC0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for SLC44A5 (see all 9)
        Metabolism
    Amine compound SLC transporters
    Phospholipid metabolism
    Synthesis of PC
    Glycerophospholipid biosynthesis



    SLC44A5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC44A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for SLC44A5 (ENSP000003598924) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACHEENSP000003032114STRING: ENSP00000303211
    CHATENSP000003371034STRING: ENSP00000337103
    CREB1ENSP000003876994STRING: ENSP00000387699
    FRS2ENSP000002992934STRING: ENSP00000299293
    GDNFENSP000003171454STRING: ENSP00000317145
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046474glycerophospholipid biosynthetic process TAS--
    GO:0055085transmembrane transport TAS--

    SLC44A5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC44A5 (CTL5)

    Search CenterWatch for drugs/clinical trials and news about SLC44A5 / CTL5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC44A5 gene (2 alternative transcripts): 
    NM_001130058.1  NM_152697.4  

    Unigene Cluster for SLC44A5:

    Solute carrier family 44, member 5
    Hs.654821  [show with all ESTs]
    Unigene Representative Sequence: AK128063
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370859(uc001dgt.2 uc001dgs.2 uc001dgr.2 uc010oqz.1)
    ENST00000370855(uc001dgu.3 uc010ora.2) ENST00000469525 ENST00000535611(uc010orb.2)


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    Primer
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    Additional mRNA sequence: 

    AK091400.1 AK093170.1 AK128063.1 AK296924.1 AK296941.1 AK299573.1 BC028743.2 BC034580.1 
    BC051740.1 

    6 DOTS entries:

    DT.99997735  DT.101982135  DT.208411  DT.91665951  DT.100682756  DT.121415403 

    24/46 AceView cDNA sequences (see all 46):

    AI805416 AW418522 BX096454 CA434661 C15251 CA311588 T07439 AK091400 
    BG572372 D81693 AA134241 AX746959 CB989782 BG619785 CB989728 Z43567 
    AI922912 AA813343 AI926889 BC028743 AI806413 AW020413 NM_152697 AX747970 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC44A5 expression in normal human tissues (normalized intensities)      SLC44A5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGTCTGAG
    SLC44A5 Expression
    About this image


    SLC44A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata

    See SLC44A5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC44A5

    SOURCE GeneReport for Unigene cluster: Hs.654821
        SABiosciences Custom PCR Arrays for SLC44A5
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC44A5 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc44a51 , 5 solute carrier family 44, member 51, 5 77.54(n)1
    70.85(a)1
      3 (78.82 cM)5
    2422591  NM_001081263.11  NP_001074732.11 
     1539734365 
    chicken
    (Gallus gallus)
    Aves SLC44A51 solute carrier family 44, member 5 72.52(n)
    67.71(a)
      429117  XM_426673.3  XP_426673.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC44A56
    solute carrier family 44, member 5
    56(a)
    1 ↔ 1
    GL343194.1(3039341-3297262)
    zebrafish
    (Danio rerio)
    Actinopterygii slc44a5b1 solute carrier family 44, member 5b 65.34(n)
    63.02(a)
      558142  NM_001202434.1  NP_001189363.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118806
    --
    31(a)
    1 → many
    3R(24949104-24953972)
    worm
    (Caenorhabditis elegans)
    Secernentea chtl-16
    Choline transporter-like protein 1
    33(a)
    1 → many
    X(5355634-5364322)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PNS1(YOR161C)4 Protein of unknown function; has similarity to Torpedo more   --   15(638558-636939) 854332  NP_014804.1 


    ENSEMBL Gene Tree for SLC44A5 (if available)
    TreeFam Gene Tree for SLC44A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC44A5 gene
    SLC44A12  SLC44A32  SLC44A42  SLC44A22  
    4 SIMAP similar genes for SLC44A5 using alignment to 3 protein entries:     CTL5_HUMAN (see all proteins):
    SLC44A2    SLC44A4    SLC44A3    SLC44A1

    SLC44A5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7928 SNPs in SLC44A5 are shown (see all 7928)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904504371,2
    --75667413(+) GTTAAC/TTGGTG 1 -- ds50010--------
    rs757787011,2
    --75667462(+) GAAAAC/TAATAA 1 -- ds50010--------
    rs170964011,2
    C,F,H--75667474(+) GTTTTT/CCTCCT 1 -- ds50019Minor allele frequency- C:0.09NA NS EA WA 784
    rs1142621401,2
    C,F--75667512(+) ACTGAG/ACAAAC 1 -- ds50011Minor allele frequency- A:0.13WA 118
    rs1817557001,2
    --75667587(+) TCTCAC/TCCATT 1 -- ds50010--------
    rs412892381,2
    --75667861(+) AACAAA/GTAACA 1 -- ut310--------
    rs1899767111,2
    --75667907(+) AAAGAA/TATTTA 1 -- ut310--------
    rs1446860721,2
    --75668113(+) GATTGA/GCATTC 1 -- ut310--------
    rs1812959921,2
    --75668257(+) TAGTAA/CAATAC 1 -- ut310--------
    rs22214581,2
    C,F,A,H--75668273(+) ACATAC/TTGTAA 1 -- ut31 ese36Minor allele frequency- T:0.09NS EA WA NA 656

    HapMap Linkage Disequilibrium report for SLC44A5 (75667816 - 75917816 bp, first 250kb of SLC44A5)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for SLC44A5 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1700928CNV Deletion17803354
    esv1527298CNV Deletion17803354
    esv2749985CNV Deletion23290073
    esv1008813CNV Deletion20482838
    esv1010081CNV Deletion20482838
    esv1954052CNV Deletion18987734
    esv994396CNV Deletion20482838
    nsv435643CNV Deletion17901297
    esv2613586CNV Deletion19546169
    esv2749974CNV Deletion23290073

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC44A5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for SLC44A5:    About MalaCards
    alzheimer's disease    


    SLC44A5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SLC44A5
    Human Genome Epidemiology (HuGE) Navigator: SLC44A5 (1 document)

    Export disorders for SLC44A5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC44A5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC44A5)
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    1. Molecular characterization of the family of choline transporter-like proteins and their splice variants. (PubMed id 15715662)1, 2, 3 Traiffort E....Meunier F.M. (2005)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PubMed id 21116278)1, 4 Furney S.J....Lovestone S. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Identification of novel germline polymorphisms governi ng capecitabine sensitivity. (PubMed id 22864933)1 O'Donnell P.H....Dolan M.E. (2012)
    7. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. (PubMed id 17903304)4 Larson M.G....Levy D. (2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 204962 HGNC: 28524 AceView: MGC34032 Ensembl:ENSG00000137968 euGenes: HUgn204962
    ECgene: SLC44A5 H-InvDB: SLC44A5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC44A5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC44A5 gene:
    Search GeneIP for patents involving SLC44A5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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