PHYHIP (phytanoyl-CoA 2-hydroxylase interacting protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9796
Gene name Phytanoyl-CoA 2-hydroxylase interacting protein
Gene symbol PHYHIP
Synonyms (NCBI Gene)
DYRK1AP3PAHX-APPAHXAP1
Chromosome 8
Chromosome location 8p21.3
miRNA miRNA information provided by mirtarbase database.
123
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (123)
miRTarBase ID miRNA Experiments Reference
MIRT016994 hsa-miR-335-5p Microarray 18185580
MIRT492715 hsa-miR-15a-5p PAR-CLIP 23592263
MIRT492714 hsa-miR-15b-5p PAR-CLIP 23592263
MIRT492713 hsa-miR-16-5p PAR-CLIP 23592263
MIRT492712 hsa-miR-195-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 15694837
GO:0008104 Process Intracellular protein localization IDA 15694837
GO:1990782 Function Protein tyrosine kinase binding IPI 15694837
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608511 16865 ENSG00000168490
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92561
Protein name Phytanoyl-CoA hydroxylase-interacting protein (Phytanoyl-CoA hydroxylase-associated protein 1) (PAHX-AP1) (PAHXAP1)
Protein function Its interaction with PHYH suggests a role in the development of the central system.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the brain. {ECO:0000269|PubMed:10686344}.
Sequence 
MELLSTPHSIEINNITCDSFRISWAMEDSDLERVTHYFIDLNKKENKNSNKFKHRDVPTK
LVAKAVPLPMTVRGHWFLSPRTEYSVAVQTAVKQSDGEYLVSGWSETVEFCTGDYAKEHL
AQLQEKAEQIAGRMLRFSVFYRNHHKEYFQHARTHCGNMLQPYLKDNSGSHGSPTSGMLH
GVFFSCNTEFNTGQPPQDSPYGRWRFQIPAQRLFNPSTNLYFADFYCMYTAYHYAILVLA
PKGSLGDRFCRDRLPLLDIACNKFLTCSVEDGELVFRHAQDLILEIIYTEPVDLSLGTLG
EISGHQLMSLSTADAKKDPSCKTCNISVGR
Sequence length 330
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERTRIGLYCERIDEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 19110721
★★★★★
★☆☆☆☆
Found in Text Mining only
Pre Eclampsia Associate 37949031
★★★★★
★☆☆☆☆
Found in Text Mining only
Severe Acute Respiratory Syndrome Associate 37949031
★★★★★
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Associate 38453655
★★★★★
★☆☆☆☆
Found in Text Mining only