Aliases for PHYHIP Gene

Aliases for PHYHIP Gene

  • Phytanoyl-CoA 2-Hydroxylase Interacting Protein 2 3 5
  • Phytanoyl-CoA Hydroxylase-Associated Protein 1 3 4
  • Phytanoyl-CoA Hydroxylase-Interacting Protein 3 4
  • DYRK1A Interacting Protein 3 2 3
  • DYRK1AP3 3 4
  • PAHX-AP1 3 4
  • KIAA0273 2 4
  • PAHX-AP 2 3
  • PAHXAP1 3 4
  • Phytanoyl-CoA Alpha-Hydroxylase Associated Protein 3
  • Phytanoyl-CoA Hydroxylase Interacting Protein 2
  • PHYHIP 5

External Ids for PHYHIP Gene

Previous HGNC Symbols for PHYHIP Gene

  • DYRK1AP3

Previous GeneCards Identifiers for PHYHIP Gene

  • GC08M021835
  • GC08M022429
  • GC08M022099
  • GC08M022133
  • GC08M022077
  • GC08M020619

Summaries for PHYHIP Gene

GeneCards Summary for PHYHIP Gene

PHYHIP (Phytanoyl-CoA 2-Hydroxylase Interacting Protein) is a Protein Coding gene. Diseases associated with PHYHIP include Refsum Disease, Classic. An important paralog of this gene is PHYHIPL.

UniProtKB/Swiss-Prot Summary for PHYHIP Gene

  • Its interaction with PHYH suggests a role in the development of the central system.

Additional gene information for PHYHIP Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHYHIP Gene

Genomics for PHYHIP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHYHIP Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J022231 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.5 513 1.3 RFX5 POLR2A RAD21 EGR1 USF1 ZFHX2 SIN3A NRF1 TBP EGR2 PHYHIP PIWIL2 RF00017-6876 BMP1 RF00017-6874
GH08J022233 Enhancer 0.2 Ensembl 600.7 -0.5 -548 0.2 RF00017-6877 PHYHIP POLR3D RF00017-6874
GH08J022243 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 16.7 -12.8 -12822 3.8 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 SIX5 POLR3D MIR320A ENSG00000253200 FAM160B2 PIWIL2 ENSG00000245025 C8orf58 PHYHIP FGF17 CCAR2
GH08J021917 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.2 +312.0 311976 4.9 ARHGAP35 PRDM10 ZNF629 SIX5 IKZF1 CTCF ZNF692 BACH1 JUND FOXA1 XPO7 ENSG00000253200 FAM160B2 C8orf58 CCAR2 POLR3D FGF17 BMP1 BIN3 NPM2
GH08J022603 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 13.1 -372.7 -372656 3.6 BRCA1 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SIX5 LEF1 CCAR2 LOC107986876 piR-39301 piR-33986 piR-49412 C8orf58 ENSG00000253200 XPO7 ENSG00000253837 SORBS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHYHIP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHYHIP

Top Transcription factor binding sites by QIAGEN in the PHYHIP gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • NRSF form 2
  • RFX1
  • ZIC2

Genomic Locations for PHYHIP Gene

Genomic Locations for PHYHIP Gene
12,650 bases
Minus strand
12,639 bases
Minus strand

Genomic View for PHYHIP Gene

Genes around PHYHIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHYHIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHYHIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHYHIP Gene

Proteins for PHYHIP Gene

  • Protein details for PHYHIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phytanoyl-CoA hydroxylase-interacting protein
    Protein Accession:
    Secondary Accessions:
    • D3DSR1
    • Q8N4I9

    Protein attributes for PHYHIP Gene

    330 amino acids
    Molecular mass:
    37573 Da
    Quaternary structure:
    • Interacts with PHYH and ADGRB1.
    • Sequence=BAA13402.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PHYHIP Gene

Post-translational modifications for PHYHIP Gene

  • Glycosylation at Asn14 and Asn325
  • Modification sites at PhosphoSitePlus

Other Protein References for PHYHIP Gene

No data available for DME Specific Peptides for PHYHIP Gene

Domains & Families for PHYHIP Gene

Gene Families for PHYHIP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PHYHIP Gene

Suggested Antigen Peptide Sequences for PHYHIP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53733, highly similar to Phytanoyl-CoA hydroxylase-interacting protein (B4DG21_HUMAN)
  • Phytanoyl-CoA hydroxylase-associated protein 1 (PHYIP_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PHYHIP family.
  • Belongs to the PHYHIP family.
genes like me logo Genes that share domains with PHYHIP: view

Function for PHYHIP Gene

Molecular function for PHYHIP Gene

UniProtKB/Swiss-Prot Function:
Its interaction with PHYH suggests a role in the development of the central system.

Phenotypes From GWAS Catalog for PHYHIP Gene

Gene Ontology (GO) - Molecular Function for PHYHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:1990782 protein tyrosine kinase binding IPI 15694837
genes like me logo Genes that share ontologies with PHYHIP: view
genes like me logo Genes that share phenotypes with PHYHIP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHYHIP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHYHIP Gene

Localization for PHYHIP Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHYHIP gene
Compartment Confidence
extracellular 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHYHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15694837
genes like me logo Genes that share ontologies with PHYHIP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PHYHIP Gene

Pathways & Interactions for PHYHIP Gene

PathCards logo

SuperPathways for PHYHIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHYHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IDA 15694837
genes like me logo Genes that share ontologies with PHYHIP: view

No data available for Pathways by source and SIGNOR curated interactions for PHYHIP Gene

Drugs & Compounds for PHYHIP Gene

No Compound Related Data Available

Transcripts for PHYHIP Gene


7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHYHIP

Alternative Splicing Database (ASD) splice patterns (SP) for PHYHIP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: - -
SP2: - - -

Relevant External Links for PHYHIP Gene

GeneLoc Exon Structure for

Expression for PHYHIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHYHIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHYHIP Gene

This gene is overexpressed in Brain - Cortex (x5.6), Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Cerebellum (x4.9), Brain - Frontal Cortex (BA9) (x4.8), Brain - Putamen (basal ganglia) (x4.6), and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for PHYHIP Gene

This gene is overexpressed in Frontal cortex (44.9) and Brain (19.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHYHIP Gene

Protein tissue co-expression partners for PHYHIP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHYHIP

SOURCE GeneReport for Unigene cluster for PHYHIP Gene:


mRNA Expression by UniProt/SwissProt for PHYHIP Gene:

Tissue specificity: Highly expressed in the brain.

Evidence on tissue expression from TISSUES for PHYHIP Gene

  • Nervous system(4.9)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with PHYHIP: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PHYHIP Gene

Orthologs for PHYHIP Gene

This gene was present in the common ancestor of animals.

Orthologs for PHYHIP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PHYHIP 30 31
  • 99.7 (n)
(Monodelphis domestica)
Mammalia PHYHIP 31
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia PHYHIP 31
  • 97 (a)
(Bos Taurus)
Mammalia PHYHIP 30 31
  • 93.74 (n)
(Canis familiaris)
Mammalia PHYHIP 30 31
  • 93.43 (n)
(Mus musculus)
Mammalia Phyhip 30 17 31
  • 92.83 (n)
(Rattus norvegicus)
Mammalia Phyhip 30
  • 92.32 (n)
(Anolis carolinensis)
Reptilia PHYHIP 31
  • 91 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia phyhip 30
  • 70.27 (n)
(Danio rerio)
Actinopterygii PHYHIP 31
  • 68 (a)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10516 30
(Caenorhabditis elegans)
Secernentea M01B2.12 31
  • 27 (a)
T10H4.13 31
  • 26 (a)
M01B2.13 31
  • 25 (a)
M01B2.10 31
  • 24 (a)
T10H4.4 31
  • 17 (a)
Y92H12BR.7 31
  • 15 (a)
Species where no ortholog for PHYHIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PHYHIP Gene

Gene Tree for PHYHIP (if available)
Gene Tree for PHYHIP (if available)
Evolutionary constrained regions (ECRs) for PHYHIP: view image

Paralogs for PHYHIP Gene

Paralogs for PHYHIP Gene

(1) SIMAP similar genes for PHYHIP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PHYHIP: view

Variants for PHYHIP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHYHIP Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs11547660 - p.Arg21Ser

Additional dbSNP identifiers (rs#s) for PHYHIP Gene

Structural Variations from Database of Genomic Variants (DGV) for PHYHIP Gene

Variant ID Type Subtype PubMed ID
dgv12054n54 CNV loss 21841781
esv2759604 CNV loss 17122850
nsv470205 CNV loss 18288195
nsv831264 CNV gain+loss 17160897
nsv831265 CNV loss 17160897

Variation tolerance for PHYHIP Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHYHIP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHYHIP Gene

Disorders for PHYHIP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHYHIP Gene - From: DISEASES

Disorder Aliases PubMed IDs
refsum disease, classic
  • rd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PHYHIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHYHIP Gene

Publications for PHYHIP Gene

  1. Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (PMID: 10686344) Lee ZH … Kim KK (Brain research. Molecular brain research 2000) 2 3 4
  2. 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. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4
  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. (PMID: 15694837) Bescond M … Rahmani Z (The international journal of biochemistry & cell biology 2005) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PHYHIP Gene

Sources for PHYHIP Gene