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

    Gene ID: 84457, updated on 2-Nov-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, Nov 2024]
    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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    See PHYHIPL in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (59173597..59247770)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (60029843..60102075)
    RS_2024_09 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 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_2024_08

    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

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