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    PID1 phosphotyrosine interaction domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55022, updated on 9-Dec-2024

    Summary

    Official Symbol
    PID1provided by HGNC
    Official Full Name
    phosphotyrosine interaction domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26084
    See related
    Ensembl:ENSG00000153823 MIM:612930; AllianceGenome:HGNC:26084
    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
    PCLI1; NYGGF4; P-CLI1; HMFN2073
    Summary
    Involved in several processes, including negative regulation of D-glucose import; negative regulation of phosphate metabolic process; and positive regulation of macromolecule biosynthetic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.9), liver (RPKM 5.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PID1 in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (229023973..229271287, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (229506578..229753882, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (229888689..230136003, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RPL7L1 pseudogene 10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:229685881-229687080 Neighboring gene ribosomal protein L17 pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 3439 Neighboring gene RN7SK pseudogene 283 Neighboring gene PID1-DNER intergenic CAGE-defined monocyte enhancer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:230271779-230272978 Neighboring gene uncharacterized LOC124907995 Neighboring gene uncharacterized LOC107985994 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:230278032-230278250 Neighboring gene delta/notch like EGF repeat containing Neighboring gene NANOG hESC enhancer GRCh37_chr2:230351166-230351667 Neighboring gene U7 small nuclear RNA Neighboring gene RNA, U7 small nuclear 9 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20701

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to cytokine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to fatty acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to interleukin-6 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to leptin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to tumor necrosis factor NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in energy reserve metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    NOT involved_in fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ATP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of D-glucose import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of D-glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ATP biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of fat cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitochondrial fusion IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of mitochondrial membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitochondrial membrane potential TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of reactive oxygen species metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    PTB-containing, cubilin and LRP1-interacting protein
    Names
    phosphotyrosine interaction domain-containing protein 1

    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_001100818.2NP_001094288.1  PTB-containing, cubilin and LRP1-interacting protein isoform 2

      See identical proteins and their annotated locations for NP_001094288.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 5' coding region and uses an upstream start codon, compared to variant 1. Isoform 2 has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB075874, BU727693, DB474424
      Consensus CDS
      CCDS42830.1
      UniProtKB/Swiss-Prot
      Q7Z2X4
      Related
      ENSP00000375908.3, ENST00000392055.8
      Conserved Domains (1) summary
      cd13167
      Location:56194
      PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold
    2. NM_001330156.1NP_001317085.1  PTB-containing, cubilin and LRP1-interacting protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007677, AK000708, AY317148
      Consensus CDS
      CCDS82577.1
      UniProtKB/Swiss-Prot
      B3KU82, Q68CJ2, Q6ZUS3, Q7Z2X4, Q8IXL0, Q9NWP6
      Related
      ENSP00000283937.8, ENST00000354069.6
    3. NM_001330157.2NP_001317086.1  PTB-containing, cubilin and LRP1-interacting protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC007677, BC040164, DB474424
      Consensus CDS
      CCDS82578.1
      UniProtKB/TrEMBL
      Q4ZG81
      Related
      ENSP00000386826.1, ENST00000409462.1
      Conserved Domains (1) summary
      cd13167
      Location:7145
      PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold
    4. NM_001330158.2NP_001317087.1  PTB-containing, cubilin and LRP1-interacting protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC007677, DA476940, DB474424
      Conserved Domains (1) summary
      cd13167
      Location:42180
      PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold
    5. NM_017933.5NP_060403.3  PTB-containing, cubilin and LRP1-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_060403.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AK125359, BC040164, BU727693, DB474424
      Consensus CDS
      CCDS2471.1
      UniProtKB/Swiss-Prot
      Q7Z2X4
      Related
      ENSP00000375907.3, ENST00000392054.7
      Conserved Domains (1) summary
      cd13167
      Location:87225
      PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold

    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
      229023973..229271287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004404.2XP_016859893.1  PTB-containing, cubilin and LRP1-interacting protein isoform X1

    2. XM_047444845.1XP_047300801.1  PTB-containing, cubilin and LRP1-interacting protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      229506578..229753882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342698.1XP_054198673.1  PTB-containing, cubilin and LRP1-interacting protein isoform X1

    2. XM_054342699.1XP_054198674.1  PTB-containing, cubilin and LRP1-interacting protein isoform X2