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

Gene ID: 9796, updated on 11-Jun-2021

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
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
Expression
Biased expression in brain (RPKM 50.0), skin (RPKM 16.9) and 4 other tissues See more
Orthologs
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Genomic context

See PHYHIP in Genome Data Viewer
Location:
8p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22219703..22232099, complement)
105.20201022 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 surfactant protein C Neighboring gene bone morphogenetic protein 1 Neighboring gene Sharpr-MPRA regulatory region 2962 Neighboring gene microRNA 320a Neighboring gene RNA polymerase III subunit D Neighboring gene PIWIL2 divergent transcript

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001099335.2NP_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
    Q92561
    Related
    ENSP00000320017.3, ENST00000321613.7
    Conserved Domains (1) summary
    cd00063
    Location:5112
    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_001363311.2NP_001350240.1  phytanoyl-CoA hydroxylase-interacting protein

    Status: VALIDATED

    Source sequence(s)
    AC105206, BC034034, BM674072, D87463
    Consensus CDS
    CCDS43723.1
    Conserved Domains (1) summary
    cd00063
    Location:5112
    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_001363312.2NP_001350241.1  phytanoyl-CoA hydroxylase-interacting protein

    Status: VALIDATED

    Source sequence(s)
    AC105206, BC034034, BM674072, D87463, HY111075
    Consensus CDS
    CCDS43723.1
    Conserved Domains (1) summary
    cd00063
    Location:5112
    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_014759.5NP_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
    Q92561
    Related
    ENSP00000415491.2, ENST00000454243.7
    Conserved Domains (1) summary
    cd00063
    Location:5112
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    22219703..22232099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014102.2XP_016869591.1  phytanoyl-CoA hydroxylase-interacting protein isoform X2

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