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PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like [ Homo sapiens (human) ]

Gene ID: 84457, updated on 5-Mar-2024

Summary

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Official Symbol
PHYHIPLprovided by HGNC
Official Full Name
phytanoyl-CoA 2-hydroxylase interacting protein likeprovided by HGNC
Primary source
HGNC:HGNC:29378
See related
Ensembl:ENSG00000165443 AllianceGenome:HGNC:29378
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
Summary
Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 57.9), adrenal (RPKM 16.3) and 8 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
10q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (59173597..59247770)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (60029843..60102075)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60936403..61007530)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 10 Neighboring gene TNF receptor associated factor 6 pseudogene 1 Neighboring gene cervical carcinoma expressed PCNA regulatory lncRNA Neighboring gene family with sequence similarity 13 member C Neighboring gene uncharacterized LOC124902429 Neighboring gene uncharacterized LOC102724778

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. Phytanoyl-CoA 2-Hydroxylase-Interacting Protein-Like Gene Is a Therapeutic Target Gene for Glioblastoma Multiforme. Fu H, et al. Med Sci Monit, 2019 Apr 9. PMID 30962415, Free PMC Article
  2. The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice. Sugimoto H, et al. Mol Brain, 2021 Mar 12. PMID 33712038, Free PMC Article
  3. Mig-6 controls EGFR trafficking and suppresses gliomagenesis. Ying H, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351267, Free PMC Article
  4. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
  5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice.
    Title: The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice.
  2. Protein-protein interactions (PPI) net indicated that PHYHIPL may play a vital role in cell metabolism, and authors hypothesize that the downregulation mechanism may be the result of mutations of the ss-catenin gene and the endogenous siRNA, as shown in previous studies.
    Title: Phytanoyl-CoA 2-Hydroxylase-Interacting Protein-Like Gene Is a Therapeutic Target Gene for Glioblastoma Multiforme.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

  • KIAA1796

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  

General protein information

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Preferred Names
phytanoyl-CoA hydroxylase-interacting protein-like

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_001143774.2 → NP_001137246.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC016398, AC025038
    Consensus CDS
    CCDS44405.1
    UniProtKB/Swiss-Prot
    Q96FC7
    Related
    ENSP00000362985.3, ENST00000373878.3
    Conserved Domains (1) summary
    cd00063
    Location:27 → 132
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

  2. NM_032439.4 → NP_115815.2  phytanoyl-CoA hydroxylase-interacting protein-like isoform 1

    See identical proteins and their annotated locations for NP_115815.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC016398, AC025038
    Consensus CDS
    CCDS7254.1
    UniProtKB/Swiss-Prot
    B7WP61, Q68DF3, Q6UXY3, Q8N3W3, Q96FC7, Q96JM9, Q96NP7
    Related
    ENSP00000362987.4, ENST00000373880.9
    Conserved Domains (1) summary
    cd00063
    Location:53 → 158
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    59173597..59247770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016783.3 → XP_016872272.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform X1

    Conserved Domains (1) summary
    cd00063
    Location:7 → 112
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

  2. XM_011540276.4 → XP_011538578.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform X1

    See identical proteins and their annotated locations for XP_011538578.1

    Conserved Domains (1) summary
    cd00063
    Location:7 → 112
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

  3. XM_011540275.4 → XP_011538577.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform X1

    See identical proteins and their annotated locations for XP_011538577.1

    Conserved Domains (1) summary
    cd00063
    Location:7 → 112
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

  4. XM_017016782.2 → XP_016872271.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform X1

    Conserved Domains (1) summary
    cd00063
    Location:7 → 112
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    60029843..60102075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366949.1 → XP_054222924.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform X1

  2. XM_054366948.1 → XP_054222923.1  phytanoyl-CoA hydroxylase-interacting protein-like isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96FC7.3 GenPept UniProtKB/Swiss-Prot:Q96FC7

Gene LinkOut

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