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Protein

Phytanoyl-CoA hydroxylase-interacting protein

Gene

PHYHIP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Its interaction with PHYH suggests a role in the development of the central system.

Names & Taxonomyi

Protein namesi
Recommended name:
Phytanoyl-CoA hydroxylase-interacting protein
Alternative name(s):
Phytanoyl-CoA hydroxylase-associated protein 1
Short name:
PAHX-AP1
Short name:
PAHXAP1
Gene namesi
Name:PHYHIP
Synonyms:DYRK1AP3, KIAA0273
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000168490.13
HGNCiHGNC:16865 PHYHIP
MIMi608511 gene
neXtProtiNX_Q92561

Pathology & Biotechi

Organism-specific databases

DisGeNETi9796
OpenTargetsiENSG00000168490
PharmGKBiPA33281

Polymorphism and mutation databases

BioMutaiPHYHIP
DMDMi2495731

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000584161 – 330Phytanoyl-CoA hydroxylase-interacting proteinAdd BLAST330

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi14N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi325N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ92561
PaxDbiQ92561
PeptideAtlasiQ92561
PRIDEiQ92561
ProteomicsDBi75317

PTM databases

iPTMnetiQ92561
PhosphoSitePlusiQ92561

Expressioni

Tissue specificityi

Highly expressed in the brain.1 Publication

Gene expression databases

BgeeiENSG00000168490 Expressed in 149 organ(s), highest expression level in cerebral cortex
CleanExiHS_PHYHIP
ExpressionAtlasiQ92561 baseline and differential
GenevisibleiQ92561 HS

Organism-specific databases

HPAiHPA068030
HPA069318

Interactioni

Subunit structurei

Interacts with PHYH and ADGRB1.1 Publication

Protein-protein interaction databases

BioGridi115139, 28 interactors
IntActiQ92561, 21 interactors
STRINGi9606.ENSP00000320017

Structurei

3D structure databases

ProteinModelPortaliQ92561
SMRiQ92561
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini6 – 115Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST110

Sequence similaritiesi

Belongs to the PHYHIP family.Curated

Phylogenomic databases

eggNOGiENOG410IK3J Eukaryota
ENOG410Y0U7 LUCA
GeneTreeiENSGT00390000014563
HOGENOMiHOG000116361
HOVERGENiHBG053596
InParanoidiQ92561
OMAiGRTHCGN
OrthoDBiEOG091G15WA
PhylomeDBiQ92561
TreeFamiTF314485

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
SUPFAMiSSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q92561-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MELLSTPHSI EINNITCDSF RISWAMEDSD LERVTHYFID LNKKENKNSN
60 70 80 90 100
KFKHRDVPTK LVAKAVPLPM TVRGHWFLSP RTEYSVAVQT AVKQSDGEYL
110 120 130 140 150
VSGWSETVEF CTGDYAKEHL AQLQEKAEQI AGRMLRFSVF YRNHHKEYFQ
160 170 180 190 200
HARTHCGNML QPYLKDNSGS HGSPTSGMLH GVFFSCNTEF NTGQPPQDSP
210 220 230 240 250
YGRWRFQIPA QRLFNPSTNL YFADFYCMYT AYHYAILVLA PKGSLGDRFC
260 270 280 290 300
RDRLPLLDIA CNKFLTCSVE DGELVFRHAQ DLILEIIYTE PVDLSLGTLG
310 320 330
EISGHQLMSL STADAKKDPS CKTCNISVGR
Length:330
Mass (Da):37,573
Last modified:February 1, 1997 - v1
Checksum:i777199E6BB071D1C
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RHN5E5RHN5_HUMAN
Phytanoyl-CoA hydroxylase-interacti...
PHYHIP
248Annotation score:

Sequence cautioni

The sequence BAA13402 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti150Q → E in AAH34034 (PubMed:15489334).Curated1
Sequence conflicti150Q → E in AAH35940 (PubMed:15489334).Curated1
Sequence conflicti245L → M in AAH34034 (PubMed:15489334).Curated1
Sequence conflicti245L → M in AAH35940 (PubMed:15489334).Curated1
Sequence conflicti254L → R in AAH34034 (PubMed:15489334).Curated1
Sequence conflicti254L → R in AAH35940 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01847521R → S. Corresponds to variant dbSNP:rs11547660Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87463 mRNA Translation: BAA13402.2 Different initiation.
CH471080 Genomic DNA Translation: EAW63693.1
CH471080 Genomic DNA Translation: EAW63694.1
BC034034 mRNA Translation: AAH34034.1
BC035940 mRNA Translation: AAH35940.1
CCDSiCCDS43723.1
RefSeqiNP_001092805.1, NM_001099335.1
NP_055574.3, NM_014759.3
XP_006716479.1, XM_006716416.1
UniGeneiHs.334688

Genome annotation databases

EnsembliENST00000321613; ENSP00000320017; ENSG00000168490
ENST00000454243; ENSP00000415491; ENSG00000168490
GeneIDi9796
KEGGihsa:9796
UCSCiuc003xbj.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87463 mRNA Translation: BAA13402.2 Different initiation.
CH471080 Genomic DNA Translation: EAW63693.1
CH471080 Genomic DNA Translation: EAW63694.1
BC034034 mRNA Translation: AAH34034.1
BC035940 mRNA Translation: AAH35940.1
CCDSiCCDS43723.1
RefSeqiNP_001092805.1, NM_001099335.1
NP_055574.3, NM_014759.3
XP_006716479.1, XM_006716416.1
UniGeneiHs.334688

3D structure databases

ProteinModelPortaliQ92561
SMRiQ92561
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115139, 28 interactors
IntActiQ92561, 21 interactors
STRINGi9606.ENSP00000320017

PTM databases

iPTMnetiQ92561
PhosphoSitePlusiQ92561

Polymorphism and mutation databases

BioMutaiPHYHIP
DMDMi2495731

Proteomic databases

MaxQBiQ92561
PaxDbiQ92561
PeptideAtlasiQ92561
PRIDEiQ92561
ProteomicsDBi75317

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321613; ENSP00000320017; ENSG00000168490
ENST00000454243; ENSP00000415491; ENSG00000168490
GeneIDi9796
KEGGihsa:9796
UCSCiuc003xbj.5 human

Organism-specific databases

CTDi9796
DisGeNETi9796
EuPathDBiHostDB:ENSG00000168490.13
GeneCardsiPHYHIP
HGNCiHGNC:16865 PHYHIP
HPAiHPA068030
HPA069318
MIMi608511 gene
neXtProtiNX_Q92561
OpenTargetsiENSG00000168490
PharmGKBiPA33281
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK3J Eukaryota
ENOG410Y0U7 LUCA
GeneTreeiENSGT00390000014563
HOGENOMiHOG000116361
HOVERGENiHBG053596
InParanoidiQ92561
OMAiGRTHCGN
OrthoDBiEOG091G15WA
PhylomeDBiQ92561
TreeFamiTF314485

Miscellaneous databases

ChiTaRSiPHYHIP human
GenomeRNAii9796
PROiPR:Q92561
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168490 Expressed in 149 organ(s), highest expression level in cerebral cortex
CleanExiHS_PHYHIP
ExpressionAtlasiQ92561 baseline and differential
GenevisibleiQ92561 HS

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
SUPFAMiSSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPHYIP_HUMAN
AccessioniPrimary (citable) accession number: Q92561
Secondary accession number(s): D3DSR1, Q8N4I9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: September 12, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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