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

    Gene ID: 9796, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PHYHIPprovided by HGNC
    Official Full Name
    phytanoyl-CoA 2-hydroxylase interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16865
    See related
    Ensembl:ENSG00000168490 MIM:608511; AllianceGenome:HGNC:16865
    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
    PAHX-AP; PAHXAP1; DYRK1AP3
    Summary
    Enables protein tyrosine kinase binding activity. Involved in protein localization. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 50.0), skin (RPKM 16.9) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PHYHIP in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22219703..22232099, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22493657..22506054, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22077216..22089612, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18982 Neighboring gene surfactant protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22031123-22031622 Neighboring gene bone morphogenetic protein 1 Neighboring gene uncharacterized LOC124901904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22046165-22046665 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22052064-22053263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22054519-22055286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22067676-22068367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22068368-22069058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22069059-22069750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22071895-22072757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22077527-22078227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22081363-22081865 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22084886-22086085 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22089242-22089989 Neighboring gene Sharpr-MPRA regulatory region 11422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22102421-22103088 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102829 Neighboring gene microRNA 320a Neighboring gene RNA polymerase III subunit D Neighboring gene PIWIL2 divergent transcript

    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. Characterization of mouse brain-specific angiogenesis inhibitor 1 (BAI1) and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a novel BAI1-binding protein. Koh JT, et al. Brain Res Mol Brain Res, 2001 Mar 5. PMID 11245925
    2. Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. Lee ZH, et al. Brain Res Mol Brain Res, 2000 Feb 22. PMID 10686344
    3. Dual-specificity tyrosine-phosphorylated and regulated kinase 1A (DYRK1A) interacts with the phytanoyl-CoA alpha-hydroxylase associated protein 1 (PAHX-AP1), a brain specific protein. Bescond M, et al. Int J Biochem Cell Biol, 2005 Apr. PMID 15694837
    4. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Weissglas-Volkov D, et al. J Med Genet, 2013 May. PMID 23505323, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. Nagase T, et al. DNA Res, 1996 Oct 31. PMID 9039502

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia.
      Title: High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia.
    2. PAHX-AP1 may contribute to new cellular functions of DYRK1A and suggest that PAHX-AP1 may be involved in the development of neurological abnormalities observed in Down syndrome patients
      Title: Dual-specificity tyrosine-phosphorylated and regulated kinase 1A (DYRK1A) interacts with the phytanoyl-CoA alpha-hydroxylase associated protein 1 (PAHX-AP1), a brain specific protein.
    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

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    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

    • KIAA0273

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein localization IDA
    Inferred from Direct Assay
    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
    		 PubMed 

    General protein information

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    Preferred Names
    phytanoyl-CoA hydroxylase-interacting protein
    Names
    DYRK1A interacting protein 3
    PAHX-AP1
    phytanoyl-CoA alpha-hydroxylase associated protein
    phytanoyl-CoA hydroxylase-associated 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_001099335.2 → NP_001092805.1  phytanoyl-CoA hydroxylase-interacting protein

      See identical proteins and their annotated locations for NP_001092805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS43723.1
      UniProtKB/Swiss-Prot
      D3DSR1, Q8N4I9, Q92561
      Related
      ENSP00000320017.3, ENST00000321613.7
      Conserved Domains (1) summary
      cd00063
      Location:5 → 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. NM_001363311.2 → NP_001350240.1  phytanoyl-CoA hydroxylase-interacting protein

      Status: VALIDATED

      Source sequence(s)
      AC105206, BC034034, BM674072, D87463
      Consensus CDS
      CCDS43723.1
      UniProtKB/Swiss-Prot
      D3DSR1, Q8N4I9, Q92561
      Conserved Domains (1) summary
      cd00063
      Location:5 → 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. NM_001363312.2 → NP_001350241.1  phytanoyl-CoA hydroxylase-interacting protein

      Status: VALIDATED

      Source sequence(s)
      AC105206, BC034034, BM674072, D87463, HY111075
      Consensus CDS
      CCDS43723.1
      UniProtKB/Swiss-Prot
      D3DSR1, Q8N4I9, Q92561
      Conserved Domains (1) summary
      cd00063
      Location:5 → 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. NM_014759.5 → NP_055574.3  phytanoyl-CoA hydroxylase-interacting protein

      See identical proteins and their annotated locations for NP_055574.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS43723.1
      UniProtKB/Swiss-Prot
      D3DSR1, Q8N4I9, Q92561
      Related
      ENSP00000415491.2, ENST00000454243.7
      Conserved Domains (1) summary
      cd00063
      Location:5 → 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 ...

    RNA

    1. NR_156475.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC105206, BC034034, BM674072, D87463, HY111075

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22219703..22232099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014102.3 → XP_016869591.1  phytanoyl-CoA hydroxylase-interacting protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22493657..22506054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361615.1 → XP_054217590.1  phytanoyl-CoA hydroxylase-interacting protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92561.1 GenPept UniProtKB/Swiss-Prot:Q92561

    Gene LinkOut

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

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