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Q96EK5

- KBP_HUMAN

UniProt

Q96EK5 - KBP_HUMAN

Protein

KIF1-binding protein

Gene

KIAA1279

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.3 Publications

    GO - Molecular functioni

    1. kinesin binding Source: UniProtKB
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. mitochondrial transport Source: UniProtKB
    3. nervous system development Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    KIF1-binding protein
    Gene namesi
    Name:KIAA1279
    Synonyms:KBP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23419. KIAA1279.

    Subcellular locationi

    Cytoplasmcytoskeleton 3 Publications

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]: A disorder characterized by Hirschsprung disease, microcephaly, hypertelorism, submucous cleft palate, short stature, and developmental delay.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Hirschsprung disease

    Organism-specific databases

    MIMi609460. phenotype.
    Orphaneti66629. Goldberg-Shprintzen megacolon syndrome.
    PharmGKBiPA134897614.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 621621KIF1-binding proteinPRO_0000050791Add
    BLAST

    Proteomic databases

    MaxQBiQ96EK5.
    PaxDbiQ96EK5.
    PeptideAtlasiQ96EK5.
    PRIDEiQ96EK5.

    PTM databases

    PhosphoSiteiQ96EK5.

    Expressioni

    Tissue specificityi

    Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes.2 Publications

    Gene expression databases

    BgeeiQ96EK5.
    CleanExiHS_KIAA1279.
    GenevestigatoriQ96EK5.

    Organism-specific databases

    HPAiHPA035538.
    HPA035539.

    Interactioni

    Subunit structurei

    Interacts with KIF1B. Interacts with STMN2.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DPEP1P164442EBI-744150,EBI-749514
    RGRP478042EBI-744150,EBI-745818

    Protein-protein interaction databases

    BioGridi117567. 35 interactions.
    IntActiQ96EK5. 13 interactions.
    MINTiMINT-5006557.
    STRINGi9606.ENSP00000354848.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96EK5.
    SMRiQ96EK5. Positions 208-236.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the KIF1-binding protein family.Curated

    Phylogenomic databases

    eggNOGiNOG74570.
    HOGENOMiHOG000047429.
    HOVERGENiHBG108054.
    InParanoidiQ96EK5.
    OMAiYEMMDLK.
    OrthoDBiEOG7PP564.
    PhylomeDBiQ96EK5.
    TreeFamiTF324211.

    Family and domain databases

    Gene3Di1.25.40.10. 2 hits.
    InterProiIPR022083. KBP.
    IPR011990. TPR-like_helical.
    [Graphical view]
    PANTHERiPTHR20956:SF0. PTHR20956:SF0. 1 hit.
    PfamiPF12309. KBP_C. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96EK5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL    50
    GPAPEDEDER PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH 100
    LGVNHIDTEE LSAGEEHLVK CLRLLRRYRL SHDCISLCIQ AQNNLGILWS 150
    EREEIETAQA YLESSEALYN QYMKEVGSPP LDPTERFLPE EEKLTEQERS 200
    KRFEKVYTHN LYYLAQVYQH LEMFEKAAHY CHSTLKRQLE HNAYHPIEWA 250
    INAATLSQFY INKLCFMEAR HCLSAANVIF GQTGKISATE DTPEAEGEVP 300
    ELYHQRKGEI ARCWIKYCLT LMQNAQLSMQ DNIGELDLDK QSELRALRKK 350
    ELDEEESIRK KAVQFGTGEL CDAISAVEEK VSYLRPLDFE EARELFLLGQ 400
    HYVFEAKEFF QIDGYVTDHI EVVQDHSALF KVLAFFETDM ERRCKMHKRR 450
    IAMLEPLTVD LNPQYYLLVN RQIQFEIAHA YYDMMDLKVA IADRLRDPDS 500
    HIVKKINNLN KSALKYYQLF LDSLRDPNKV FPEHIGEDVL RPAMLAKFRV 550
    ARLYGKIITA DPKKELENLA TSLEHYKFIV DYCEKHPEAA QEIEVELELS 600
    KEMVSLLPTK MERFRTKMAL T 621
    Length:621
    Mass (Da):71,814
    Last modified:December 1, 2001 - v1
    Checksum:iDA86308364D31335
    GO

    Sequence cautioni

    The sequence BAA86593.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti139 – 1391I → T in BAF84032. (PubMed:14702039)Curated
    Sequence conflicti334 – 3341G → A in BAF84032. (PubMed:14702039)Curated
    Sequence conflicti419 – 4191H → R in BAF84032. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661G → S.1 Publication
    Corresponds to variant rs2255607 [ dbSNP | Ensembl ].
    VAR_023311

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB033105 mRNA. Translation: BAA86593.1. Different initiation.
    AL359844 Genomic DNA. Translation: CAH72378.1.
    AK291343 mRNA. Translation: BAF84032.1.
    BC012180 mRNA. Translation: AAH12180.1.
    AL050190 mRNA. Translation: CAB43311.1.
    CCDSiCCDS7284.1.
    PIRiT08798.
    RefSeqiNP_056449.1. NM_015634.3.
    UniGeneiHs.279580.

    Genome annotation databases

    EnsembliENST00000361983; ENSP00000354848; ENSG00000198954.
    GeneIDi26128.
    KEGGihsa:26128.
    UCSCiuc001joy.3. human.

    Polymorphism databases

    DMDMi73920081.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB033105 mRNA. Translation: BAA86593.1 . Different initiation.
    AL359844 Genomic DNA. Translation: CAH72378.1 .
    AK291343 mRNA. Translation: BAF84032.1 .
    BC012180 mRNA. Translation: AAH12180.1 .
    AL050190 mRNA. Translation: CAB43311.1 .
    CCDSi CCDS7284.1.
    PIRi T08798.
    RefSeqi NP_056449.1. NM_015634.3.
    UniGenei Hs.279580.

    3D structure databases

    ProteinModelPortali Q96EK5.
    SMRi Q96EK5. Positions 208-236.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117567. 35 interactions.
    IntActi Q96EK5. 13 interactions.
    MINTi MINT-5006557.
    STRINGi 9606.ENSP00000354848.

    PTM databases

    PhosphoSitei Q96EK5.

    Polymorphism databases

    DMDMi 73920081.

    Proteomic databases

    MaxQBi Q96EK5.
    PaxDbi Q96EK5.
    PeptideAtlasi Q96EK5.
    PRIDEi Q96EK5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361983 ; ENSP00000354848 ; ENSG00000198954 .
    GeneIDi 26128.
    KEGGi hsa:26128.
    UCSCi uc001joy.3. human.

    Organism-specific databases

    CTDi 26128.
    GeneCardsi GC10P070748.
    H-InvDB HIX0008881.
    HGNCi HGNC:23419. KIAA1279.
    HPAi HPA035538.
    HPA035539.
    MIMi 609367. gene.
    609460. phenotype.
    neXtProti NX_Q96EK5.
    Orphaneti 66629. Goldberg-Shprintzen megacolon syndrome.
    PharmGKBi PA134897614.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74570.
    HOGENOMi HOG000047429.
    HOVERGENi HBG108054.
    InParanoidi Q96EK5.
    OMAi YEMMDLK.
    OrthoDBi EOG7PP564.
    PhylomeDBi Q96EK5.
    TreeFami TF324211.

    Miscellaneous databases

    GeneWikii KIAA1279.
    GenomeRNAii 26128.
    NextBioi 48149.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96EK5.
    CleanExi HS_KIAA1279.
    Genevestigatori Q96EK5.

    Family and domain databases

    Gene3Di 1.25.40.10. 2 hits.
    InterProi IPR022083. KBP.
    IPR011990. TPR-like_helical.
    [Graphical view ]
    PANTHERi PTHR20956:SF0. PTHR20956:SF0. 1 hit.
    Pfami PF12309. KBP_C. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein."
      Wozniak M.J., Melzer M., Dorner C., Haring H.U., Lammers R.
      BMC Cell Biol. 6:35-35(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH KIF1B, FUNCTION.
    2. "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
      DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], TISSUE SPECIFICITY, VARIANT SER-66.
      Tissue: Brain.
    3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    4. "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].
      Tissue: Tongue.
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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: Lung.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-621.
      Tissue: Uterus.
    8. Cited for: INVOLVEMENT IN GOSHS.
    9. "KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation."
      Alves M.M., Burzynski G., Delalande J.M., Osinga J., van der Goot A., Dolga A.M., de Graaff E., Brooks A.S., Metzger M., Eisel U.L., Shepherd I., Eggen B.J., Hofstra R.M.
      Hum. Mol. Genet. 19:3642-3651(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH STMN2, SUBCELLULAR LOCATION.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: INVOLVEMENT IN GOSHS, FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiKBP_HUMAN
    AccessioniPrimary (citable) accession number: Q96EK5
    Secondary accession number(s): A8K5M8
    , Q9BR89, Q9ULE1, Q9Y428
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 106 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

    Caution

    Was originally shown to localize in the mitochondrion and to play a role in mitochondrial transport (PubMed:16225668). Recent articles, however, have shown that it does not localize to mitochondria, it interacts with the cytoskeleton and does not have a role in mitochondrial function (PubMed:20621975, PubMed:23427148).3 Publications

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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