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    Slc44a1 solute carrier family 44, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 100434, updated on 27-Nov-2024

    Summary

    Official Symbol
    Slc44a1provided by MGI
    Official Full Name
    solute carrier family 44, member 1provided by MGI
    Primary source
    MGI:MGI:2140592
    See related
    Ensembl:ENSMUSG00000028412 AllianceGenome:MGI:2140592
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CTL1; CHTL1; Cdw92; 2210409B22Rik; 4833416H08Rik
    Summary
    Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Predicted to be located in cytosol; mitochondrial outer membrane; and nucleoplasm. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hindlimb long bone; and thoracic segment skeleton. Human ortholog(s) of this gene implicated in high grade glioma. Orthologous to human SLC44A1 (solute carrier family 44 member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 21.8), bladder adult (RPKM 12.6) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Slc44a1 in Genome Data Viewer
    Location:
    4 B2; 4 28.66 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (53440387..53622478)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (53440387..53622478)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr4:53290912-53291213 Neighboring gene STARR-seq mESC enhancer starr_10223 Neighboring gene macrophage expressed LXRa(NR1H3)-dependent amplifier of Abca1 transcription lncRNA Neighboring gene STARR-seq mESC enhancer starr_10230 Neighboring gene predicted gene 12496 Neighboring gene STARR-positive B cell enhancer mm9_chr4:53397629-53397930 Neighboring gene STARR-seq mESC enhancer starr_10233 Neighboring gene STARR-positive B cell enhancer mm9_chr4:53424836-53425137 Neighboring gene STARR-seq mESC enhancer starr_10238 Neighboring gene predicted gene, 54227 Neighboring gene STARR-seq mESC enhancer starr_10241 Neighboring gene RIKEN cDNA 1700060J05 gene Neighboring gene predicted gene, 54226 Neighboring gene fibronectin type III and SPRY domain containing 1-like Neighboring gene single stranded DNA binding protein 4 pseudogene Neighboring gene fukutin

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (3) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables choline transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables choline transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables choline transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables choline transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ethanolamine transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ethanolamine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in choline transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in choline transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in choline transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in choline transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ethanolamine transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ethanolamine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    choline transporter-like protein 1
    Names
    CDW92 antigen

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001159633.1NP_001153105.1  choline transporter-like protein 1 isoform B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a different exon for its 3'-terminal exon, compared to variant 1, which results in a distinct 3' UTR and a protein (isoform B) with a shorter and distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AK077951, CF532681, CJ054525
      Consensus CDS
      CCDS51178.1
      UniProtKB/TrEMBL
      A2AMH3
      Related
      ENSMUSP00000103273.3, ENSMUST00000107646.9
      Conserved Domains (1) summary
      pfam04515
      Location:292497
      Choline_transpo; Plasma-membrane choline transporter
    2. NM_001374697.1NP_001361626.1  choline transporter-like protein 1 isoform C

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (C).
      Source sequence(s)
      AL805900, AL807745
      Consensus CDS
      CCDS89743.1
      UniProtKB/TrEMBL
      A2AMH5
      Related
      ENSMUSP00000103278.3, ENSMUST00000107651.9
      Conserved Domains (1) summary
      pfam04515
      Location:293603
      Choline_transpo; Plasma-membrane choline transporter
    3. NM_133891.3NP_598652.3  choline transporter-like protein 1 isoform A

      See identical proteins and their annotated locations for NP_598652.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.
      Source sequence(s)
      AK077951, BB271503, BC113167, BQ031280
      Consensus CDS
      CCDS18189.1
      UniProtKB/Swiss-Prot
      Q14DK0, Q6X893, Q6X894, Q8R0Y4, Q91Z29
      Related
      ENSMUSP00000099975.4, ENSMUST00000102911.10
      Conserved Domains (1) summary
      pfam04515
      Location:292603
      Choline_transpo; Plasma-membrane choline transporter

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      53440387..53622478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006537531.4XP_006537594.1  choline transporter-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A2AMH4
      Related
      ENSMUSP00000103274.2, ENSMUST00000107647.8
      Conserved Domains (1) summary
      pfam04515
      Location:293603
      Choline_transpo; Plasma-membrane choline transporter
    2. XM_030253067.1XP_030108927.1  choline transporter-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A2AMH8
      Related
      ENSMUSP00000103272.2, ENSMUST00000107645.2
      Conserved Domains (1) summary
      pfam04515
      Location:68378
      Choline_transpo; Plasma-membrane choline transporter
    3. XM_006537533.4XP_006537596.1  choline transporter-like protein 1 isoform X2

      Conserved Domains (1) summary
      pfam04515
      Location:253563
      Choline_transpo; Plasma-membrane choline transporter