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Q92561

- PHYIP_HUMAN

UniProt

Q92561 - PHYIP_HUMAN

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
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    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

    ArrayExpressiQ92561.
    BgeeiQ92561.
    CleanExiHS_PHYHIP.
    GenevestigatoriQ92561.

    Interactioni

    Subunit structurei

    Interacts with PHYH and BAI1.1 Publication

    Protein-protein interaction databases

    BioGridi115139. 19 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.
    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

    MELLSTPHSI EINNITCDSF RISWAMEDSD LERVTHYFID LNKKENKNSN    50
    KFKHRDVPTK LVAKAVPLPM TVRGHWFLSP RTEYSVAVQT AVKQSDGEYL 100
    VSGWSETVEF CTGDYAKEHL AQLQEKAEQI AGRMLRFSVF YRNHHKEYFQ 150
    HARTHCGNML QPYLKDNSGS HGSPTSGMLH GVFFSCNTEF NTGQPPQDSP 200
    YGRWRFQIPA QRLFNPSTNL YFADFYCMYT AYHYAILVLA PKGSLGDRFC 250
    RDRLPLLDIA CNKFLTCSVE DGELVFRHAQ DLILEIIYTE PVDLSLGTLG 300
    EISGHQLMSL STADAKKDPS CKTCNISVGR 330
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 19 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.
    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

    ArrayExpressi Q92561.
    Bgeei Q92561.
    CleanExi HS_PHYHIP.
    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

    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 1, 2014
    This is version 114 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