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Q92561

- PHYIP_HUMAN

UniProt

Q92561 - PHYIP_HUMAN

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Protein

Phytanoyl-CoA hydroxylase-interacting protein

Gene

PHYHIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- 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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:16865. PHYHIP.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33281.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 330330Phytanoyl-CoA hydroxylase-interacting proteinPRO_0000058416Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi14 – 141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi325 – 3251N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ92561.
PaxDbiQ92561.
PRIDEiQ92561.

PTM databases

PhosphoSiteiQ92561.

Expressioni

Tissue specificityi

Highly expressed in the brain.1 Publication

Gene expression databases

BgeeiQ92561.
CleanExiHS_PHYHIP.
ExpressionAtlasiQ92561. baseline and differential.
GenevestigatoriQ92561.

Interactioni

Subunit structurei

Interacts with PHYH and BAI1.1 Publication

Protein-protein interaction databases

BioGridi115139. 28 interactions.
IntActiQ92561. 21 interactions.
STRINGi9606.ENSP00000362987.

Structurei

3D structure databases

ProteinModelPortaliQ92561.
SMRiQ92561. Positions 5-114.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini6 – 115110Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the PHYHIP family.Curated
Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG81522.
GeneTreeiENSGT00390000014563.
HOGENOMiHOG000116361.
HOVERGENiHBG053596.
InParanoidiQ92561.
OMAiWAMENSD.
OrthoDBiEOG7CK372.
PhylomeDBiQ92561.
TreeFamiTF314485.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

The sequence BAA13402.2 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti150 – 1501Q → E in AAH34034. (PubMed:15489334)Curated
Sequence conflicti150 – 1501Q → E in AAH35940. (PubMed:15489334)Curated
Sequence conflicti245 – 2451L → M in AAH34034. (PubMed:15489334)Curated
Sequence conflicti245 – 2451L → M in AAH35940. (PubMed:15489334)Curated
Sequence conflicti254 – 2541L → R in AAH34034. (PubMed:15489334)Curated
Sequence conflicti254 – 2541L → R in AAH35940. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211R → S.
Corresponds to variant rs11547660 [ dbSNP | Ensembl ].
VAR_018475

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.4. human.

Polymorphism databases

DMDMi2495731.

Keywords - Coding sequence diversityi

Polymorphism

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 .
CCDSi CCDS43723.1.
RefSeqi NP_001092805.1. NM_001099335.1.
NP_055574.3. NM_014759.3.
XP_006716479.1. XM_006716416.1.
UniGenei Hs.334688.

3D structure databases

ProteinModelPortali Q92561.
SMRi Q92561. Positions 5-114.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115139. 28 interactions.
IntActi Q92561. 21 interactions.
STRINGi 9606.ENSP00000362987.

PTM databases

PhosphoSitei Q92561.

Polymorphism databases

DMDMi 2495731.

Proteomic databases

MaxQBi Q92561.
PaxDbi Q92561.
PRIDEi Q92561.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321613 ; ENSP00000320017 ; ENSG00000168490 .
ENST00000454243 ; ENSP00000415491 ; ENSG00000168490 .
GeneIDi 9796.
KEGGi hsa:9796.
UCSCi uc003xbj.4. human.

Organism-specific databases

CTDi 9796.
GeneCardsi GC08M022077.
HGNCi HGNC:16865. PHYHIP.
MIMi 608511. gene.
neXtProti NX_Q92561.
PharmGKBi PA33281.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG81522.
GeneTreei ENSGT00390000014563.
HOGENOMi HOG000116361.
HOVERGENi HBG053596.
InParanoidi Q92561.
OMAi WAMENSD.
OrthoDBi EOG7CK372.
PhylomeDBi Q92561.
TreeFami TF314485.

Miscellaneous databases

ChiTaRSi PHYHIP. human.
GenomeRNAii 9796.
NextBioi 36890.
PROi Q92561.
SOURCEi Search...

Gene expression databases

Bgeei Q92561.
CleanExi HS_PHYHIP.
ExpressionAtlasi Q92561. baseline and differential.
Genevestigatori Q92561.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view ]
SMARTi SM00060. FN3. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 1 hit.
PROSITEi PS50853. FN3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrow.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. "Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase."
    Lee Z.H., Kim H.-H., Ahn K.Y., Seo K.H., Kim J.K., Bae C.S., Kim K.K.
    Brain Res. Mol. Brain Res. 75:237-247(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, INTERACTION WITH PHYH.

Entry informationi

Entry nameiPHYIP_HUMAN
AccessioniPrimary (citable) accession number: Q92561
Secondary accession number(s): D3DSR1, Q8N4I9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: October 29, 2014
This is version 115 of the entry and version 1 of the sequence. [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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3