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

Summary

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, Dec 2024]
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

Location:: 8p21.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22219703..22232099, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22493657..22506054, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22077216..22089612, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002C14 (e-PCR)
- UniSTS:37416

D8S1579 (e-PCR)
- UniSTS:14969

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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)

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 ...
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 ...
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 ...
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 ...