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    SLC44A3 solute carrier family 44, member 3 [ Homo sapiens ]

    Gene ID: 126969, updated on 11-May-2012
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    Summary

    Official Symbol
    SLC44A3provided by HGNC
    Official Full Name
    solute carrier family 44, member 3provided by HGNC
    Primary source
    HGNC:28689
    Locus tag
    UNQ558/PRO1115
    See related
    Ensembl:ENSG00000143036; HPRD:14637; Vega:OTTHUMG00000010700
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CTL3; MGC45474
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    Genomic context

    Location :
    1p21.3
    Sequence :
    Chromosome: 1; NC_000001.10 (95285901..95360802)
    See SLC44A3 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene piggyBac transposable element derived 4 pseudogene Neighboring gene microRNA 378g Neighboring gene calponin 3, acidic Neighboring gene hCG2028352-like

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    3. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. Vanderwerf SM, et al. Blood, 2009 Dec 17. PMID 19850743.
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414.
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:126026 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    choline transporter-like protein 3
    Names
    choline transporter-like protein 3
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    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001114106.2 → NP_001107578.1  choline transporter-like protein 3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL540829, AY358659, BC033858, DB331517, DC311042
      Consensus CDS
      CCDS44176.1
      UniProtKB/Swiss-Prot
      Q8N4M1
      Related
      ENSP00000271227, OTTHUMP00000012419, ENST00000271227, OTTHUMT00000029544
      Conserved Domains (1) summary
      pfam04515
      Location:287 – 608
      Blast Score: 779
      Choline_transpo; Plasma-membrane choline transporter

    2. NM_001258340.1 → NP_001245269.1  choline transporter-like protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK313574, AL530322, AL540829, AY358659, BX648225, DB331517, DC311042

    3. NM_001258341.1 → NP_001245270.1  choline transporter-like protein 3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AK316123, AL540829, BX648225, DB331517, DC311042

    4. NM_001258342.1 → NP_001245271.1  choline transporter-like protein 3 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AK303906, AL540829, AY358659, DB331517, DC311042

    5. NM_001258343.1 → NP_001245272.1  choline transporter-like protein 3 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an exon and uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AK301288, AL540829, AY358659, DB331517, DC311042

    6. NM_152369.4 → NP_689582.2  choline transporter-like protein 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AY358659, BC053877, DA538278, DB331517
      Consensus CDS
      CCDS751.1
      UniProtKB/Swiss-Prot
      Q8N4M1
      Related
      ENSP00000432789, OTTHUMP00000228724, ENST00000467909, OTTHUMT00000029545
      Conserved Domains (1) summary
      pfam04515
      Location:239 – 560
      Blast Score: 773
      Choline_transpo; Plasma-membrane choline transporter

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      95285901..95360802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      93407521..93482626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC093429.2 (28444..102876) None
    genomic AL359554.7 CAC36091.1
    genomic CH471097.2 EAW73030.1
      EAW73031.1
      EAW73032.1
      EAW73033.1
      EAW73034.1
      EAW73035.1
      EAW73036.1
      EAW73037.1
      EAW73038.1
    mRNA AK300193.1 BAG61966.1
    mRNA AK301288.1 BAG62846.1
    mRNA AK302381.1 BAG63698.1
    mRNA AK303906.1 BAG64836.1
    mRNA AK313574.1 None
    mRNA AK316123.1 BAH14494.1
    mRNA AY358659.1 AAQ89022.1
    mRNA BC033858.1 AAH33858.2
    mRNA BC040448.1 None
    mRNA BC053877.1 AAH53877.1
    mRNA BX648225.1 None
    mRNA DA538278.1 None
    mRNA DC311042.1 None
    other-genetic HQ257925.1 ADR82679.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4M1.4 GenPept UniProtKB/Swiss-Prot:Q8N4M1
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Medical
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