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PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 254295, updated on 4-Jun-2020

Summary

Official Symbol
PHYHD1provided by HGNC
Official Full Name
phytanoyl-CoA dioxygenase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:23396
See related
Ensembl:ENSG00000175287
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
Expression
Ubiquitous expression in kidney (RPKM 11.6), thyroid (RPKM 9.8) and 23 other tissues See more
Orthologs

Genomic context

See PHYHD1 in Genome Data Viewer
Location:
9q34.11
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128920982..128942041)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131683174..131704322)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene kynurenine aminotransferase 1 Neighboring gene leucine rich repeat containing 8 VRAC subunit A Neighboring gene uncharacterized LOC101929291 Neighboring gene nucleoporin 188 Neighboring gene dolichol kinase Neighboring gene uncharacterized LOC101929314

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: NUP188

Homology

Clone Names

  • MGC16638

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
phytanoyl-CoA dioxygenase domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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_001100876.2NP_001094346.1  phytanoyl-CoA dioxygenase domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_001094346.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AK095000, BM689360
    Consensus CDS
    CCDS43885.1
    UniProtKB/Swiss-Prot
    Q5SRE7
    Related
    ENSP00000361673.3, ENST00000372592.8
    Conserved Domains (1) summary
    pfam05721
    Location:12259
    PhyH; Phytanoyl-CoA dioxygenase (PhyH)
  2. NM_001100877.1NP_001094347.1  phytanoyl-CoA dioxygenase domain-containing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001094347.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame coding exon, compared to variant 1. The resulting protein (isoform c) is shorter than isoform a.
    Source sequence(s)
    AK095000, BC051300, BM689360
    Consensus CDS
    CCDS43886.1
    UniProtKB/Swiss-Prot
    Q5SRE7
    Related
    ENSP00000409928.2, ENST00000421063.6
    Conserved Domains (1) summary
    pfam05721
    Location:12238
    PhyH; Phytanoyl-CoA dioxygenase (PhyH)
  3. NM_174933.4NP_777593.2  phytanoyl-CoA dioxygenase domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_777593.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform b) has a longer and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK095000, BC009373, BM689360
    Consensus CDS
    CCDS6914.1
    UniProtKB/Swiss-Prot
    Q5SRE7
    UniProtKB/TrEMBL
    A0A024R893
    Related
    ENSP00000309515.5, ENST00000308941.9
    Conserved Domains (1) summary
    cl21496
    Location:12147
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    128920982..128942041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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