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    SLC66A3 solute carrier family 66 member 3 [ Homo sapiens (human) ]

    Gene ID: 130814, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC66A3provided by HGNC
    Official Full Name
    solute carrier family 66 member 3provided by HGNC
    Primary source
    HGNC:HGNC:28503
    See related
    Ensembl:ENSG00000162976 AllianceGenome:HGNC:28503
    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
    PQLC3; C2orf22
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 9.0), gall bladder (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC66A3 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11155467..11178856)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11187869..11211256)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11295593..11318982)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11245073-11245572 Neighboring gene Putative uncharacterized protein FLJ33534 Neighboring gene ribosomal protein L6 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11269908-11270408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11270409-11270909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11292424-11292924 Neighboring gene ciliary microtubule inner protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11171 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11298670-11298918 Neighboring gene Rho associated coiled-coil containing protein kinase 2 Neighboring gene Sharpr-MPRA regulatory region 13580 Neighboring gene RNA, U6 small nuclear 1081, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11397407-11397926 Neighboring gene AIDA pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mitochondrial Raf1 Regulates Glutamine Catabolism. Shanderson RL, et al. bioRxiv, 2024 Mar 9. PMID 38496616, Free PMC Article
    2. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33602

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 66 member 3
    Names
    PQ loop repeat containing 3
    PQ-loop repeat-containing protein 3

    NCBI Reference Sequences (RefSeq)

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    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_001282710.2 → NP_001269639.1  solute carrier family 66 member 3 isoform b

      See identical proteins and their annotated locations for NP_001269639.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK001091, AK301439, BQ574369, DB460796
      Consensus CDS
      CCDS62856.1
      UniProtKB/TrEMBL
      C9J4B6
      Related
      ENSP00000406148.2, ENST00000441908.6

    2. NM_001282711.2 → NP_001269640.1  solute carrier family 66 member 3 isoform c precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK001091, AK301439, BQ574369, CX751769, DC392668
      Consensus CDS
      CCDS62857.1
      UniProtKB/TrEMBL
      B5MC27
      Related
      ENSP00000384129.1, ENST00000402361.5

    3. NM_001282712.2 → NP_001269641.1  solute carrier family 66 member 3 isoform d precursor

      See identical proteins and their annotated locations for NP_001269641.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks three exons in the 3' coding region and uses an alternate splice site in the central region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC018463, AK001091, BQ277359, BQ574369, DC392668
      UniProtKB/Swiss-Prot
      Q8N755

    4. NM_152391.5 → NP_689604.1  solute carrier family 66 member 3 isoform a precursor

      See identical proteins and their annotated locations for NP_689604.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK001091, BQ574369
      Consensus CDS
      CCDS1679.1
      UniProtKB/Swiss-Prot
      B2R8K1, B4DWA4, Q8N755
      Related
      ENSP00000295083.3, ENST00000295083.8

    RNA

    1. NR_104231.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK001091, BI601351, BQ574369

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      11155467..11178856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510315.3 → XP_011508617.1  solute carrier family 66 member 3 isoform X2

    2. XM_047443425.1 → XP_047299381.1  solute carrier family 66 member 3 isoform X1

      UniProtKB/TrEMBL
      C9J4B6, G5E9P4
      Related
      ENSP00000406587.1, ENST00000445921.5

    3. XM_047443426.1 → XP_047299382.1  solute carrier family 66 member 3 isoform X3

      Related
      ENST00000476787.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      11187869..11211256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340592.1 → XP_054196567.1  solute carrier family 66 member 3 isoform X2

    2. XM_054340591.1 → XP_054196566.1  solute carrier family 66 member 3 isoform X1

      UniProtKB/TrEMBL
      C9J4B6, G5E9P4

    3. XM_054340593.1 → XP_054196568.1  solute carrier family 66 member 3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N755.1 GenPept UniProtKB/Swiss-Prot:Q8N755

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