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Q92561 (PHYIP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phytanoyl-CoA hydroxylase-interacting protein
Alternative name(s):
Phytanoyl-CoA hydroxylase-associated protein 1
Short name=PAHX-AP1
Short name=PAHXAP1
Gene names
Name:PHYHIP
Synonyms:DYRK1AP3, KIAA0273
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length330 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with PHYH and BAI1. Ref.4

Tissue specificity

Highly expressed in the brain. Ref.4

Sequence similarities

Belongs to the PHYHIP family.

Contains 1 fibronectin type-III domain.

Sequence caution

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

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 330330Phytanoyl-CoA hydroxylase-interacting protein
PRO_0000058416

Regions

Domain6 – 115110Fibronectin type-III

Amino acid modifications

Glycosylation141N-linked (GlcNAc...) Potential
Glycosylation3251N-linked (GlcNAc...) Potential

Natural variations

Natural variant211R → S.
Corresponds to variant rs11547660 [ dbSNP | Ensembl ].
VAR_018475

Experimental info

Sequence conflict1501Q → E in AAH34034. Ref.3
Sequence conflict1501Q → E in AAH35940. Ref.3
Sequence conflict2451L → M in AAH34034. Ref.3
Sequence conflict2451L → M in AAH35940. Ref.3
Sequence conflict2541L → R in AAH34034. Ref.3
Sequence conflict2541L → R in AAH35940. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q92561 [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: 777199E6BB071D1C

FASTA33037,573
        10         20         30         40         50         60 
MELLSTPHSI EINNITCDSF RISWAMEDSD LERVTHYFID LNKKENKNSN KFKHRDVPTK 

        70         80         90        100        110        120 
LVAKAVPLPM TVRGHWFLSP RTEYSVAVQT AVKQSDGEYL VSGWSETVEF CTGDYAKEHL 

       130        140        150        160        170        180 
AQLQEKAEQI AGRMLRFSVF YRNHHKEYFQ HARTHCGNML QPYLKDNSGS HGSPTSGMLH 

       190        200        210        220        230        240 
GVFFSCNTEF NTGQPPQDSP YGRWRFQIPA QRLFNPSTNL YFADFYCMYT AYHYAILVLA 

       250        260        270        280        290        300 
PKGSLGDRFC RDRLPLLDIA CNKFLTCSVE DGELVFRHAQ DLILEIIYTE PVDLSLGTLG 

       310        320        330 
EISGHQLMSL STADAKKDPS CKTCNISVGR 

« Hide

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS43723.1.
RefSeqNP_001092805.1. NM_001099335.1.
NP_055574.3. NM_014759.3.
XP_006716479.1. XM_006716416.1.
UniGeneHs.334688.

3D structure databases

ProteinModelPortalQ92561.
SMRQ92561. Positions 5-114.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115139. 19 interactions.
IntActQ92561. 21 interactions.
STRING9606.ENSP00000362987.

PTM databases

PhosphoSiteQ92561.

Polymorphism databases

DMDM2495731.

Proteomic databases

MaxQBQ92561.
PaxDbQ92561.
PRIDEQ92561.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321613; ENSP00000320017; ENSG00000168490.
ENST00000454243; ENSP00000415491; ENSG00000168490.
GeneID9796.
KEGGhsa:9796.
UCSCuc003xbj.4. human.

Organism-specific databases

CTD9796.
GeneCardsGC08M022077.
HGNCHGNC:16865. PHYHIP.
MIM608511. gene.
neXtProtNX_Q92561.
PharmGKBPA33281.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG81522.
HOGENOMHOG000116361.
HOVERGENHBG053596.
InParanoidQ92561.
OMAWAMENSD.
OrthoDBEOG7CK372.
PhylomeDBQ92561.
TreeFamTF314485.

Gene expression databases

ArrayExpressQ92561.
BgeeQ92561.
CleanExHS_PHYHIP.
GenevestigatorQ92561.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
PROSITEPS50853. FN3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPHYHIP. human.
GenomeRNAi9796.
NextBio36890.
PROQ92561.
SOURCESearch...

Entry information

Entry namePHYIP_HUMAN
AccessionPrimary (citable) accession number: Q92561
Secondary accession number(s): D3DSR1, Q8N4I9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM