Phyhip Gene Detail

Summary

• Symbol
  Phyhip
• Name
  phytanoyl-CoA hydroxylase interacting protein
• Synonyms
  C630010D02Rik, PAHX-AP#1, PAHX-AP1

• Feature Type
  protein coding gene
• IDs
  MGI:1860417
  NCBI Gene: 105653
• Alliance
  gene page
• Transcription Start Sites
  20 TSS

Location &
Maps

• Sequence Map
  Chr14:70694957-70706266 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 14, 36.32 cM
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  296 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1860417	protein coding gene	Chr14:70694916-70706272 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021538	protein coding gene	Chr14:65109657-65120860 (+)
A/J	MGP_AJ_G0021497	protein coding gene	Chr14:63726020-63737319 (+)
AKR/J	MGP_AKRJ_G0021473	protein coding gene	Chr14:65637174-65648468 (+)
BALB/cJ	MGP_BALBcJ_G0021503	protein coding gene	Chr14:63488952-63500255 (+)
C3H/HeJ	MGP_C3HHeJ_G0021280	protein coding gene	Chr14:65352992-65364316 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021942	protein coding gene	Chr14:68021085-68032378 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019482	protein coding gene	Chr14:61560901-61572427 (+)
CAST/EiJ	MGP_CASTEiJ_G0020797	protein coding gene	Chr14:61947418-61958749 (+)
CBA/J	MGP_CBAJ_G0021247	protein coding gene	Chr14:70161868-70173160 (+)
DBA/2J	MGP_DBA2J_G0021370	protein coding gene	Chr14:63109794-63121378 (+)
FVB/NJ	MGP_FVBNJ_G0021349	protein coding gene	Chr14:62539581-62551140 (+)
LP/J	MGP_LPJ_G0021441	protein coding gene	Chr14:66350428-66362700 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021378	protein coding gene	Chr14:69050539-69061953 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021966	protein coding gene	Chr14:64900019-64911315 (+)
PWK/PhJ	MGP_PWKPhJ_G0020541	protein coding gene	Chr14:59877824-59886806 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020374	protein coding gene	Chr14:60826082-60837374 (+)
WSB/EiJ	MGP_WSBEiJ_G0020850	protein coding gene	Chr14:65209701-65221031 (+)

Homology

• Human Ortholog
  PHYHIP, phytanoyl-CoA 2-hydroxylase interacting protein

• Vertebrate Orthologs
  2

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  PHYHIP, phytanoyl-CoA 2-hydroxylase interacting protein
  
• Synonyms
  DYRK1AP3, PAHX-AP, PAHXAP1
• Links
  HGNC:16865

  NCBI Gene ID: 9796

  neXtProt AC: NX_Q92561

  UniProt: Q92561

  
  
• Chr Location
  8p21.3; chr8:22219703-22232101 (-)  GRCh38

---

• MGI Vertebrate Homology
  Phyhip stringent orthology
  1 human;1 mouse;1 rat
  
• HCOP
  vertebrate homology predictions: PHYHIP
• Gene Tree
  Phyhip
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  6 phenotype references
  

• All Mutations and Alleles
  4
• Chemically induced (other)
  1
• Endonuclease-mediated
  1
• Targeted
  2
• Genomic Mutations
  1 involving Phyhip
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  23 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  9
• GO References
  6

Expression

• Assay Results
  879
• Tissues
  44
• cDNA Data
  4
• Literature Summary
  3

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase phyhip

Sequences &
Gene Models

• All Sequences
  38
• RefSeq
  6
• UniProt
  3
• CCDS
  CCDS36971.1

• Ensembl
  ENSMUSG00000003469 (Evidence)
• NCBI Gene
  105653

Representative Sequences			Length	Strain/Species
genomic	105653	NCBI Gene Model | MGI Sequence Detail	11310	C57BL/6J
transcript	NM_145981	RefSeq | MGI Sequence Detail	2789	C57BL/6
polypeptide	Q8K0S0	UniProt | EBI | MGI Sequence Detail	330	Not Applicable

Protein
Information

• UniProt
  3 Sequences
• Protein Ontology
  PR:000012676 phytanoyl-CoA hydroxylase-interacting protein
  (term hierarchy)
• InterPro Domains
  IPR003961 Fibronectin type III
  IPR036116 Fibronectin type III superfamily
  IPR013783 Immunoglobulin-like fold
  IPR042868 Phytanoyl-CoA hydroxylase-interacting protein-like
  IPR045545 Phytanoyl-CoA hydroxylase-interacting protein-like, C-terminal
• GlyGen
  Q8K0S0 2 sites, 1 N-linked glycan (1 site)

Molecular
Reagents

• All nucleic 5

  cDNA 5

  
  

  Microarray probesets 3

Other
Accession IDs

MGI:2145792

References

• Summaries
  All 32

  Developmental Gene Expression 3

  Gene Ontology 6

  Phenotypes 6
• Earliest
  J:60726 Lee ZH, et al., Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. Brain Res Mol Brain Res. 2000 Feb 22;75(2):237-47
• Latest
  J:336825 Raspa M, et al., Dry ice is a reliable substrate for the distribution of frozen mouse spermatozoa: A multi-centric study. Theriogenology. 2017 Jul 1;96:49-57

TSS for Phyhip:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr126414	Chr14:70694432-70694454 (+)	-514 bp
Tssr126415	Chr14:70694666-70694714 (+)	-267 bp
Tssr126416	Chr14:70694868-70694875 (+)	-85 bp
Tssr126417	Chr14:70694887-70694984 (+)	-21 bp
Tssr126418	Chr14:70694987-70694990 (+)	32 bp
Tssr126419	Chr14:70695029-70695036 (+)	76 bp
Tssr126420	Chr14:70695049-70695058 (+)	97 bp
Tssr126421	Chr14:70699193-70699219 (+)	4,249 bp
Tssr126422	Chr14:70700341-70700344 (+)	5,386 bp
Tssr126423	Chr14:70703895-70703907 (+)	8,944 bp
Tssr126424	Chr14:70703979-70703981 (+)	9,023 bp
Tssr126425	Chr14:70704006-70704037 (+)	9,065 bp
Tssr4470	Chr14:70704050-70704061 (+)	9,099 bp
Tssr126426	Chr14:70704163-70704173 (+)	9,211 bp
Tssr126427	Chr14:70704260-70704288 (+)	9,317 bp
Tssr126428	Chr14:70704293-70704300 (+)	9,340 bp
Tssr126429	Chr14:70705052-70705059 (+)	10,099 bp
Tssr126430	Chr14:70705121-70705127 (+)	10,167 bp
Tssr126431	Chr14:70705275-70705285 (+)	10,323 bp
Tssr126432	Chr14:70705309-70705323 (+)	10,359 bp