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PQLC2 PQ loop repeat containing 2 [ Homo sapiens (human) ]

Gene ID: 54896, updated on 5-Jul-2015
Official Symbol
PQLC2provided by HGNC
Official Full Name
PQ loop repeat containing 2provided by HGNC
Primary source
HGNC:HGNC:26001
See related
Ensembl:ENSG00000040487; HPRD:17896; MIM:614760; Vega:OTTHUMG00000002521
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
Orthologs
See PQLC2 in Epigenomics, MapViewer
Location:
1p36.13
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (19312246..19332431)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19638740..19658925)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506730 Neighboring gene aldo-keto reductase family 7, member A2 Neighboring gene capping protein (actin filament) muscle Z-line, beta Neighboring gene uncharacterized LOC644083 Neighboring gene uncharacterized LOC105376820

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ20320, FLJ23906, FLJ26661, FLJ26665

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-lysine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
arginine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
basic amino acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
L-lysine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
amino acid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
arginine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
arginine transport IDA
Inferred from Direct Assay
more info
PubMed 
lysine transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of organelle membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
lysosomal amino acid transporter 1 homolog
Names
PQ-loop repeat-containing protein 2

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_001040125.1NP_001035214.1  lysosomal amino acid transporter 1 homolog isoform 1

    See identical proteins and their annotated locations for NP_001035214.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK125580, BC015324, DA202894, DA560373
    Consensus CDS
    CCDS195.2
    UniProtKB/TrEMBL
    A0A024RA97
    UniProtKB/Swiss-Prot
    Q6ZP29
    Related
    ENSP00000364295, OTTHUMP00000002649, ENST00000375153, OTTHUMT00000007255
    Conserved Domains (1) summary
    pfam04193
    Location:183238
    PQ-loop; PQ loop repeat
  2. NM_001040126.1NP_001035215.1  lysosomal amino acid transporter 1 homolog isoform 2

    See identical proteins and their annotated locations for NP_001035215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate segment in the 5' UTR and an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    BC015324, DA202894
    Consensus CDS
    CCDS30618.1
    UniProtKB/TrEMBL
    A0A024RAA1
    UniProtKB/Swiss-Prot
    Q6ZP29
    Related
    ENSP00000383395, OTTHUMP00000184894, ENST00000400548, OTTHUMT00000289786
    Conserved Domains (1) summary
    pfam04193
    Location:118173
    PQ-loop; PQ loop repeat
  3. NM_001287531.1NP_001274460.1  lysosomal amino acid transporter 1 homolog isoform 3

    See identical proteins and their annotated locations for NP_001274460.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment in the 5' UTR, an alternate exon, and uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK172745, BC015324, DA202894
    UniProtKB/Swiss-Prot
    Q6ZP29
    Conserved Domains (1) summary
    pfam04193
    Location:72127
    PQ-loop; PQ loop repeat
  4. NM_017765.2NP_060235.2  lysosomal amino acid transporter 1 homolog isoform 1

    See identical proteins and their annotated locations for NP_060235.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AK125580, AK130171, BC015324, DA202894
    Consensus CDS
    CCDS195.2
    UniProtKB/TrEMBL
    A0A024RA97
    UniProtKB/Swiss-Prot
    Q6ZP29
    Related
    ENSP00000364297, OTTHUMP00000002621, ENST00000375155, OTTHUMT00000007164
    Conserved Domains (1) summary
    pfam04193
    Location:183238
    PQ-loop; PQ loop repeat

RNA

  1. NR_109848.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK000327, AL035413, DA202894

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    19312246..19332431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541634.1XP_011539936.1  

    Conserved Domains (1) summary
    pfam04193
    Location:3798
    PQ-loop; PQ loop repeat
  2. XM_005245916.1XP_005245973.1  

    See identical proteins and their annotated locations for XP_005245973.1

    UniProtKB/TrEMBL
    A0A024RA97
    UniProtKB/Swiss-Prot
    Q6ZP29
    Conserved Domains (1) summary
    pfam04193
    Location:183238
    PQ-loop; PQ loop repeat
  3. XM_006710711.1XP_006710774.1  

    See identical proteins and their annotated locations for XP_006710774.1

    UniProtKB/Swiss-Prot
    Q6ZP29
    Conserved Domains (1) summary
    pfam04193
    Location:72127
    PQ-loop; PQ loop repeat
  4. XM_006710710.1XP_006710773.1  

    See identical proteins and their annotated locations for XP_006710773.1

    UniProtKB/Swiss-Prot
    Q6ZP29
    Conserved Domains (1) summary
    pfam04193
    Location:72127
    PQ-loop; PQ loop repeat

RNA

  1. XR_946677.1 RNA Sequence

  2. XR_946678.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    19748043..19768224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)