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

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 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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PID1 reduces serum HDL-Cholesterol levels.
Title: Overexpression of PID1 reduces high density lipoprotein level and functionality in swine.
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.
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.
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.
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.
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.
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.
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].
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].
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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH120473 (e-PCR)
- UniSTS:133638

RH36403 (e-PCR)
- UniSTS:24635

G60009 (e-PCR)
- UniSTS:137277

RH11720 (e-PCR)
- UniSTS:82512

SHGC-146554 (e-PCR)
- UniSTS:172634

D2S2052 (e-PCR)
- UniSTS:46940

SHGC-34101 (e-PCR)
- UniSTS:38494

RH16443 (e-PCR)
- UniSTS:38495

SHGC-34399 (e-PCR)
- UniSTS:14182

RH102298 (e-PCR)
- UniSTS:96632

RH45521 (e-PCR)
- UniSTS:71290

RH45529 (e-PCR)
- UniSTS:39849

SHGC-83823 (e-PCR)
- UniSTS:101803

G60553 (e-PCR)
- UniSTS:137659

D2S2745 (e-PCR)
- UniSTS:8396

D2S2213 (e-PCR)
- UniSTS:21502

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

Go to the top of the page Help

Preferred Names: PTB-containing, cubilin and LRP1-interacting protein

Names: phosphotyrosine interaction domain-containing protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

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
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
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
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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

229023973..229271287 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004404.2 → XP_016859893.1 PTB-containing, cubilin and LRP1-interacting protein isoform X1
XM_047444845.1 → XP_047300801.1 PTB-containing, cubilin and LRP1-interacting protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

229506578..229753882 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342698.1 → XP_054198673.1 PTB-containing, cubilin and LRP1-interacting protein isoform X1
XM_054342699.1 → XP_054198674.1 PTB-containing, cubilin and LRP1-interacting protein isoform X2