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

Gene ID: 55022, updated on 1-Aug-2020

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
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
Expression
Ubiquitous expression in brain (RPKM 7.9), liver (RPKM 5.4) and 24 other tissues See more
Orthologs

Genomic context

See PID1 in Genome Data Viewer
Location:
2q36.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (229023973..229271287, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (229888689..230136057, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 like 1 pseudogene 10 Neighboring gene ribosomal protein L17 pseudogene 14 Neighboring gene RN7SK pseudogene 283 Neighboring gene PID1-DNER intergenic CAGE-defined monocyte enhancer Neighboring gene uncharacterized LOC107985994 Neighboring gene DNER intron CAGE-defined monocyte enhancer Neighboring gene delta/notch like EGF repeat containing

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20701

Gene Ontology Provided by GOA

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

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, ENST00000392055.7
    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
    Q7Z2X4
    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/Swiss-Prot
    Q7Z2X4
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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