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

Gene ID: 55022, updated on 5-Mar-2024

Summary

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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 mitochondrion morphogenesis; negative regulation of phosphate metabolic process; and positive regulation of macromolecule metabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 7.9), liver (RPKM 5.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
2q36.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (229023973..229271287, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (229506578..229753882, complement)
105.20220307 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

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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. Overexpression of PID1 reduces high density lipoprotein level and functionality in swine. Mu Q, et al. IUBMB Life, 2019 Dec. PMID 31339628
  2. PID1 (NYGGF4), a new growth-inhibitory gene in embryonal brain tumors and gliomas. Erdreich-Epstein A, et al. Clin Cancer Res, 2014 Feb 15. PMID 24300787, Free PMC Article
  3. NYGGF4 (PID1) effects on insulin resistance are reversed by metformin in 3T3-L1 adipocytes. Qiu J, et al. J Bioenerg Biomembr, 2012 Dec. PMID 22968630
  4. NYGGF4 as a new therapeutic target for obesity-associated insulin resistance. Yu Z, et al. Med Hypotheses, 2012 Apr. PMID 22284633
  5. [Effects of NYGGF4 gene over-expression on the insulin sensitivity and secretory function of adipocytes]. Zhang CM, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2009 Oct. PMID 19849947

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PID1 reduces serum HDL-Cholesterol levels.
    Title: Overexpression of PID1 reduces high density lipoprotein level and functionality in swine.
  2. By acting as an insulin-dependent retention adaptor, PID1 serves as a regulator of LRP1 function controlling the disposal of postprandial lipoproteins.
    Title: The adaptor protein PID1 regulates receptor-dependent endocytosis of postprandial triglyceride-rich lipoproteins.
  3. Overall survival and radiation-free progression-free survival were longer in medulloblastoma patients whose tumors had higher PID1 mRNA levels.
    Title: PID1 (NYGGF4), a new growth-inhibitory gene in embryonal brain tumors and gliomas.
  4. overexpression of TFAM can restore mitochondrial function to normal levels in NYGGF4-overexpressing adipocytes
    Title: Overexpression of TFAM protects 3T3-L1 adipocytes from NYGGF4 (PID1) overexpression-induced insulin resistance and mitochondrial dysfunction.
  5. NYGGF4 plays a role in IR and its effects on IR could be reversed by metformin through activating IRS-1/PI3K/Akt and AMPK-PGC1-alpha pathways.
    Title: NYGGF4 (PID1) effects on insulin resistance are reversed by metformin in 3T3-L1 adipocytes.
  6. NYGGF4 acts directly on the IRS1/PI3K/AKT insulin pathway to reduce glucose uptake and transport, impairs mitochondrial function and causes insulin resistance, and thus may be a useful therapeutic target for obesity-associated insulin resistance.
    Title: NYGGF4 as a new therapeutic target for obesity-associated insulin resistance.
  7. Overexpression of NYGGF4 caused mitochondrial dysfunction in adipocytes, which might be responsible for the development of NYGGF4-induced insulin resistance.
    Title: Overexpression of NYGGF4 (PID1) induces mitochondrial impairment in 3T3-L1 adipocytes.
  8. TNFA up-regulated the expression of NYGGF4 during preadipocyte differentiation.
    Title: [Expression of the NYGGF4 gene during human preadipocyte differentiation and the regulative role of tumor necrosis factor-alpha].
  9. NYGGF4 over-expression impairs the insulin sensitivity of 3T3-L1 adipocytes through decreasing GLUT4 translocation and had no effects on the secretory function of adipocytes.
    Title: [Effects of NYGGF4 gene over-expression on the insulin sensitivity and secretory function of adipocytes].
  10. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 glucose import IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of 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

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

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_001100818.2 → NP_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:56 → 194
    PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold

  2. NM_001330156.1 → NP_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_001330157.2 → NP_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:7 → 145
    PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold

  4. NM_001330158.2 → NP_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:42 → 180
    PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold

  5. NM_017933.5 → NP_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:87 → 225
    PTB_P-CLI1; PTB-containing, cubilin and LRP1-interacting protein Phosphotyrosine-binding (PTB) PH-like fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_017004404.2 → XP_016859893.1  PTB-containing, cubilin and LRP1-interacting protein isoform X1

  2. XM_047444845.1 → XP_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_054342698.1 → XP_054198673.1  PTB-containing, cubilin and LRP1-interacting protein isoform X1

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z2X4.1 GenPept UniProtKB/Swiss-Prot:Q7Z2X4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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