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

Gene ID: 130814, updated on 2-Nov-2024

Summary

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, Nov 2024]
Expression
Ubiquitous expression in spleen (RPKM 9.0), gall bladder (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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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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_001282710.2NP_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_001282711.2NP_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_001282712.2NP_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_152391.5NP_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_011510315.3XP_011508617.1  solute carrier family 66 member 3 isoform X2

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

    UniProtKB/TrEMBL
    G5E9P4
    Related
    ENSP00000406587.1, ENST00000445921.5
  3. XM_047443426.1XP_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_054340592.1XP_054196567.1  solute carrier family 66 member 3 isoform X2

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

    UniProtKB/TrEMBL
    G5E9P4
  3. XM_054340593.1XP_054196568.1  solute carrier family 66 member 3 isoform X3