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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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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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