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

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. An important paralog of this gene is PHYHIPL.

UniProtKB/Swiss-Prot for PHYHIP Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHYHIP Gene

Genomics for PHYHIP Gene

Regulatory Elements for PHYHIP Gene

Enhancers for PHYHIP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F022009 1.7 FANTOM5 Ensembl ENCODE 13.4 +221.7 221741 2.0 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 GLIS2 PHYHIP FGF17 GFRA2 XPO7 NPM2 DMTN LGI3 GC08P022006 PIR59461
GH08F022243 1.2 ENCODE 14.7 -12.8 -12834 3.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PIWIL2 POLR3D PHYHIP BIN3 ENSG00000253200 TNFRSF10B SORBS3 GC08P022245 GC08P022247
GH08F022387 1.4 Ensembl ENCODE 11.1 -156.4 -156406 3.0 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LOC100507156 PHYHIP POLR3D TNFRSF10B SORBS3 PPP3CC PIWIL2 SLC39A14 RPL21P77 GC08M022352
GH08F022741 1.4 Ensembl ENCODE 11 -513.5 -513507 7.8 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 SORBS3 POLR3D BIN3 PHYHIP LOC101929237 ENSG00000251034 ENSG00000253200 TNFRSF10B LOC100507071 GC08M022705
GH08F022286 1.2 Ensembl ENCODE 11.2 -55.1 -55099 1.3 PKNOX1 ATF1 ARID4B DMAP1 ZNF48 ZNF2 ZNF121 SLC30A9 ZNF143 SP5 PIWIL2 MIR320A POLR3D PHYHIP SLC39A14 SORBS3 ENSG00000251034
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHYHIP on UCSC Golden Path with GeneCards custom track

Promoters for PHYHIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001899305 241 201 HDGF ZNF76 ARID4B KLF17 SIN3A GLI4 ZNF2 ZBTB40 RAD21 RFX5

Genomic Location for PHYHIP Gene

22,219,703 bp from pter
22,232,341 bp from pter
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 BAI1.
    • Sequence=BAA13402.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PHYHIP Gene

Post-translational modifications for PHYHIP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHYHIP Gene

No data available for DME Specific Peptides for PHYHIP Gene

Domains & Families for PHYHIP Gene

Protein Domains for PHYHIP Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 1 fibronectin type-III domain.
  • Belongs to the PHYHIP family.
  • Contains 1 fibronectin type-III domain.
  • Belongs to the PHYHIP family.
genes like me logo Genes that share domains with PHYHIP: view

No data available for Gene Families for PHYHIP Gene

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.
genes like me logo Genes that share phenotypes with PHYHIP: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for PHYHIP Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for PHYHIP Gene

Pathways & Interactions for PHYHIP Gene

SuperPathways for PHYHIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHYHIP Gene


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

Transcripts for PHYHIP Gene

Unigene Clusters for PHYHIP Gene

Phytanoyl-CoA 2-hydroxylase interacting protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for PHYHIP Gene

Protein tissue co-expression partners for PHYHIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHYHIP Gene:


SOURCE GeneReport for Unigene cluster for PHYHIP Gene:


mRNA Expression by UniProt/SwissProt for PHYHIP Gene:

Tissue specificity: Highly expressed in the brain.
genes like me logo Genes that share expression patterns with PHYHIP: view

Primer Products

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 34 35
  • 99.7 (n)
(Monodelphis domestica)
Mammalia PHYHIP 35
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia PHYHIP 35
  • 97 (a)
(Bos Taurus)
Mammalia PHYHIP 34 35
  • 93.74 (n)
(Canis familiaris)
Mammalia PHYHIP 34 35
  • 93.43 (n)
(Mus musculus)
Mammalia Phyhip 34 16 35
  • 92.83 (n)
(Rattus norvegicus)
Mammalia Phyhip 34
  • 92.32 (n)
(Anolis carolinensis)
Reptilia PHYHIP 35
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia phyhip 34
  • 70.27 (n)
(Danio rerio)
Actinopterygii PHYHIP 35
  • 68 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10516 34
(Caenorhabditis elegans)
Secernentea M01B2.12 35
  • 27 (a)
T10H4.13 35
  • 26 (a)
M01B2.13 35
  • 25 (a)
M01B2.10 35
  • 24 (a)
T10H4.4 35
  • 17 (a)
Y92H12BR.7 35
  • 15 (a)
Species where no ortholog for PHYHIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for PHYHIP Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10091029 -- 22,228,566(+) GAAAG(A/G)GGTGC intron-variant
rs10100426 -- 22,227,747(+) AGGGC(C/T)CCGCC intron-variant
rs10104583 -- 22,219,627(+) tgcca(C/G)cacct downstream-variant-500B
rs10106609 -- 22,232,192(+) TCGCC(C/G)GGCTG upstream-variant-2KB, utr-variant-5-prime
rs10537398 -- 22,231,666(+) GGGGG(-/GG)AGAGG intron-variant

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

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

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)

Relevant External Links 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 and GeneCards

Disorder Aliases PubMed IDs
refsum disease
  • heredopathia atactica polyneuritiformis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PHYHIP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Z.H. … Kim K.K. (Brain Res. Mol. Brain Res. 2000) 2 3 4 64
  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 Res. 1996) 2 3 4 64
  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. (Int. J. Biochem. Cell Biol. 2005) 3 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for PHYHIP Gene

Sources for PHYHIP Gene

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