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Q9UF11

- PKHB1_HUMAN

UniProt

Q9UF11 - PKHB1_HUMAN

Protein

Pleckstrin homology domain-containing family B member 1

Gene

PLEKHB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Required for proper localization of retinogeniculate projections but not for eye-specific segregation.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. signal transducer activity Source: ProtInc

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB-KW
    2. phototransduction Source: UniProtKB
    3. regulation of cell differentiation Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pleckstrin homology domain-containing family B member 1
    Short name:
    PH domain-containing family B member 1
    Alternative name(s):
    Evectin-1
    PH domain-containing protein in retina 1
    Short name:
    PHRET1
    Pleckstrin homology domain retinal protein 1
    Gene namesi
    Name:PLEKHB1
    Synonyms:EVT1, KPL1, PHR1, PHRET1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:19079. PLEKHB1.

    Subcellular locationi

    Membrane 1 Publication. Cytoplasm By similarity
    Note: Localizes to the apical juxta-nuclear Golgi region of the cytoplasm By similarity. Membrane-associated. Highly expressed in the outer segments of photoreceptor cells, both in rods and cones.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38787.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 243243Pleckstrin homology domain-containing family B member 1PRO_0000053886Add
    BLAST

    Proteomic databases

    MaxQBiQ9UF11.
    PaxDbiQ9UF11.
    PRIDEiQ9UF11.

    PTM databases

    PhosphoSiteiQ9UF11.

    Expressioni

    Tissue specificityi

    Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested.1 Publication

    Gene expression databases

    ArrayExpressiQ9UF11.
    BgeeiQ9UF11.
    CleanExiHS_PLEKHB1.
    GenevestigatoriQ9UF11.

    Interactioni

    Subunit structurei

    Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A By similarity. Binds transducins.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ZDHHC17Q8IUH54EBI-9089825,EBI-524753

    Protein-protein interaction databases

    BioGridi121807. 1 interaction.
    IntActiQ9UF11. 2 interactions.
    STRINGi9606.ENSP00000346127.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UF11.
    SMRiQ9UF11. Positions 21-138.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini21 – 128108PHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 PH domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG44470.
    HOVERGENiHBG060487.
    InParanoidiQ9UF11.
    OMAiAWKTALM.
    OrthoDBiEOG7CZK73.
    PhylomeDBiQ9UF11.
    TreeFamiTF331787.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    InterProiIPR001849. PH_domain.
    IPR011993. PH_like_dom.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    [Graphical view]
    PROSITEiPS50003. PH_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UF11-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSPAAPVPPD SALESPFEEM ALVRGGWLWR QSSILRRWKR NWFALWLDGT    50
    LGYYHDETAQ DEEDRVLIHF NVRDIKIGPE CHDVQPPEGR SRDGLLTVNL 100
    REGGRLHLCA ETKDDALAWK TALLEANSTP APAGATVPPR SRRVCSKVRC 150
    VTRSWSPCKV ERRIWVRVYS PYQDYYEVVP PNAHEATYVR SYYGPPYAGP 200
    GVTHVIVRED PCYSAGAPLA MGMLAGAATG AALGSLMWSP CWF 243
    Length:243
    Mass (Da):27,186
    Last modified:May 1, 2000 - v1
    Checksum:i8F60531721CF76CA
    GO
    Isoform 2 (identifier: Q9UF11-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         131-165: Missing.

    Show »
    Length:208
    Mass (Da):23,207
    Checksum:iC11C12BF6E6FE4F0
    GO
    Isoform 3 (identifier: Q9UF11-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-19: Missing.

    Show »
    Length:224
    Mass (Da):25,233
    Checksum:iCE38AF6D0DE093D1
    GO
    Isoform 4 (identifier: Q9UF11-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-19: Missing.
         131-165: Missing.

    Show »
    Length:189
    Mass (Da):21,254
    Checksum:i6A25AE30F80F7E07
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1919Missing in isoform 3 and isoform 4. 4 PublicationsVSP_009779Add
    BLAST
    Alternative sequencei131 – 16535Missing in isoform 2 and isoform 4. 3 PublicationsVSP_009780Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U89715 mRNA. Translation: AAF16675.1.
    AF093249 mRNA. Translation: AAF16684.1.
    AF101054 mRNA. Translation: AAF18572.1.
    AF100612 mRNA. Translation: AAF18932.1.
    AF081583 mRNA. Translation: AAF21786.1.
    AK289620 mRNA. Translation: BAF82309.1.
    AK289909 mRNA. Translation: BAF82598.1.
    AK290109 mRNA. Translation: BAF82798.1.
    AK301299 mRNA. Translation: BAH13452.1.
    AK314748 mRNA. Translation: BAG37288.1.
    CH471076 Genomic DNA. Translation: EAW74900.1.
    CH471076 Genomic DNA. Translation: EAW74903.1.
    CH471076 Genomic DNA. Translation: EAW74904.1.
    BC008075 mRNA. Translation: AAH08075.1.
    CCDSiCCDS44672.1. [Q9UF11-1]
    CCDS44673.1. [Q9UF11-2]
    CCDS44674.1. [Q9UF11-3]
    CCDS44675.1. [Q9UF11-4]
    RefSeqiNP_001123505.1. NM_001130033.1. [Q9UF11-2]
    NP_001123506.1. NM_001130034.1. [Q9UF11-3]
    NP_001123507.1. NM_001130035.1. [Q9UF11-4]
    NP_001123508.1. NM_001130036.1. [Q9UF11-4]
    NP_067023.1. NM_021200.2. [Q9UF11-1]
    UniGeneiHs.445489.

    Genome annotation databases

    EnsembliENST00000227214; ENSP00000227214; ENSG00000021300. [Q9UF11-4]
    ENST00000354190; ENSP00000346127; ENSG00000021300. [Q9UF11-1]
    ENST00000398492; ENSP00000381505; ENSG00000021300. [Q9UF11-2]
    ENST00000398494; ENSP00000381507; ENSG00000021300. [Q9UF11-3]
    ENST00000535129; ENSP00000442616; ENSG00000021300. [Q9UF11-4]
    GeneIDi58473.
    KEGGihsa:58473.
    UCSCiuc001oua.3. human. [Q9UF11-1]
    uc001oub.3. human. [Q9UF11-2]
    uc001oud.3. human. [Q9UF11-4]

    Polymorphism databases

    DMDMi48474683.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U89715 mRNA. Translation: AAF16675.1 .
    AF093249 mRNA. Translation: AAF16684.1 .
    AF101054 mRNA. Translation: AAF18572.1 .
    AF100612 mRNA. Translation: AAF18932.1 .
    AF081583 mRNA. Translation: AAF21786.1 .
    AK289620 mRNA. Translation: BAF82309.1 .
    AK289909 mRNA. Translation: BAF82598.1 .
    AK290109 mRNA. Translation: BAF82798.1 .
    AK301299 mRNA. Translation: BAH13452.1 .
    AK314748 mRNA. Translation: BAG37288.1 .
    CH471076 Genomic DNA. Translation: EAW74900.1 .
    CH471076 Genomic DNA. Translation: EAW74903.1 .
    CH471076 Genomic DNA. Translation: EAW74904.1 .
    BC008075 mRNA. Translation: AAH08075.1 .
    CCDSi CCDS44672.1. [Q9UF11-1 ]
    CCDS44673.1. [Q9UF11-2 ]
    CCDS44674.1. [Q9UF11-3 ]
    CCDS44675.1. [Q9UF11-4 ]
    RefSeqi NP_001123505.1. NM_001130033.1. [Q9UF11-2 ]
    NP_001123506.1. NM_001130034.1. [Q9UF11-3 ]
    NP_001123507.1. NM_001130035.1. [Q9UF11-4 ]
    NP_001123508.1. NM_001130036.1. [Q9UF11-4 ]
    NP_067023.1. NM_021200.2. [Q9UF11-1 ]
    UniGenei Hs.445489.

    3D structure databases

    ProteinModelPortali Q9UF11.
    SMRi Q9UF11. Positions 21-138.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121807. 1 interaction.
    IntActi Q9UF11. 2 interactions.
    STRINGi 9606.ENSP00000346127.

    PTM databases

    PhosphoSitei Q9UF11.

    Polymorphism databases

    DMDMi 48474683.

    Proteomic databases

    MaxQBi Q9UF11.
    PaxDbi Q9UF11.
    PRIDEi Q9UF11.

    Protocols and materials databases

    DNASUi 58473.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000227214 ; ENSP00000227214 ; ENSG00000021300 . [Q9UF11-4 ]
    ENST00000354190 ; ENSP00000346127 ; ENSG00000021300 . [Q9UF11-1 ]
    ENST00000398492 ; ENSP00000381505 ; ENSG00000021300 . [Q9UF11-2 ]
    ENST00000398494 ; ENSP00000381507 ; ENSG00000021300 . [Q9UF11-3 ]
    ENST00000535129 ; ENSP00000442616 ; ENSG00000021300 . [Q9UF11-4 ]
    GeneIDi 58473.
    KEGGi hsa:58473.
    UCSCi uc001oua.3. human. [Q9UF11-1 ]
    uc001oub.3. human. [Q9UF11-2 ]
    uc001oud.3. human. [Q9UF11-4 ]

    Organism-specific databases

    CTDi 58473.
    GeneCardsi GC11P073357.
    HGNCi HGNC:19079. PLEKHB1.
    MIMi 607651. gene.
    neXtProti NX_Q9UF11.
    PharmGKBi PA38787.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44470.
    HOVERGENi HBG060487.
    InParanoidi Q9UF11.
    OMAi AWKTALM.
    OrthoDBi EOG7CZK73.
    PhylomeDBi Q9UF11.
    TreeFami TF331787.

    Miscellaneous databases

    ChiTaRSi PLEKHB1. human.
    GenomeRNAii 58473.
    NextBioi 64900.
    PROi Q9UF11.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UF11.
    Bgeei Q9UF11.
    CleanExi HS_PLEKHB1.
    Genevestigatori Q9UF11.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    InterProi IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    [Graphical view ]
    PROSITEi PS50003. PH_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments."
      Xu S., Ladak R., Swanson D.A., Soltyk A., Sun H., Ploder L., Vidgen D., Duncan A.M.V., Garami E., McInnes R.R., Valle D.
      J. Biol. Chem. 274:35676-35685(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), INTERACTION WITH TRANSDUCIN, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
      Tissue: Brain and Retina.
    2. "KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells."
      Andrews K.L., Potdar P.D., Nettesheim P., Ostrowski L.E.
      Exp. Lung Res. 26:257-271(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Brain, Retina and Tracheal epithelium.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
      Tissue: Amygdala, Corpus callosum, Stomach and Subthalamic nucleus.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 4).
      Tissue: Skin.

    Entry informationi

    Entry nameiPKHB1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UF11
    Secondary accession number(s): A8K0Q5
    , B2RBP1, B7Z716, Q9UBF5, Q9UI37, Q9UI44
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 104 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 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3