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Q9Y664

- KPTN_HUMAN

UniProt

Q9Y664 - KPTN_HUMAN

Protein

Kaptin

Gene

KPTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (30 May 2006)
      Previous versions | rss
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    Functioni

    Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.3 Publications

    GO - Molecular functioni

    1. actin binding Source: ProtInc

    GO - Biological processi

    1. actin filament organization Source: ProtInc
    2. cellular component movement Source: ProtInc
    3. sensory perception of sound Source: ProtInc

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kaptin
    Alternative name(s):
    Actin-associated protein 2E4
    Gene namesi
    Name:KPTN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:6404. KPTN.

    Subcellular locationi

    Cytoplasm. Cytoplasmperinuclear region. Cell projectionstereocilium. Cell projectiongrowth cone
    Note: Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin polymerization in motile fibroblasts and neuronal growth cones.

    GO - Cellular componenti

    1. actin cytoskeleton Source: ProtInc
    2. growth cone Source: UniProtKB-SubCell
    3. microtubule organizing center Source: ProtInc
    4. nucleus Source: ProtInc
    5. perinuclear region of cytoplasm Source: UniProtKB-SubCell
    6. stereocilium Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, autosomal recessive 41 (MRT41) [MIM:615637]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti241 – 2411M → MWSVLQ in MRT41; the mutant proteins do not accumulate to F-actin-rich lamellipodia but instead accumulate at irregular perinuclear sites.
    VAR_070974

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi615637. phenotype.
    PharmGKBiPA30194.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 436436KaptinPRO_0000239234Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9Y664.
    PaxDbiQ9Y664.
    PRIDEiQ9Y664.

    PTM databases

    PhosphoSiteiQ9Y664.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y664.
    BgeeiQ9Y664.
    CleanExiHS_KPTN.
    GenevestigatoriQ9Y664.

    Organism-specific databases

    HPAiHPA041710.
    HPA041796.

    Interactioni

    Subunit structurei

    Associates with one end of F-actin filaments.

    Protein-protein interaction databases

    BioGridi116306. 7 interactions.
    IntActiQ9Y664. 1 interaction.
    STRINGi9606.ENSP00000337850.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y664.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG38850.
    HOGENOMiHOG000008052.
    HOVERGENiHBG061148.
    InParanoidiQ9Y664.
    OMAiCQSGYVR.
    OrthoDBiEOG7TTQ7H.
    PhylomeDBiQ9Y664.
    TreeFamiTF328973.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y664-1) [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

    MMGEAAVAAG PCPLREDSFT RFSSQSNVYG LAGGAGGRGE LLAATLKGKV    50
    LGFRYQDLRQ KIRPVAKELQ FNYIPVDAEI VSIDTFNKSP PKRGLVVGIT 100
    FIKDSGDKGS PFLNIYCDYE PGSEYNLDSI AQSCLNLELQ FTPFQLCHAE 150
    VQVGDQLETV FLLSGNDPAI HLYKENEGLH QFEEQPVENL FPELTNLTSS 200
    VLWLDVHNFP GTSRRLSALG CQSGYVRVAH VDQRSREVLQ MWSVLQDGPI 250
    SRVIVFSLSA AKETKDRPLQ DEYSVLVASM LEPAVVYRDL LNRGLEDQLL 300
    LPGSDQFDSV LCSLVTDVDL DGRPEVLVAT YGQELLCYKY RGPESGLPEA 350
    QHGFHLLWQR SFSSPLLAMA HVDLTGDGLQ ELAVVSLKGV HILQHSLIQA 400
    SELVLTRLRH QVEQRRRRLQ GLEDGAGAGP AENAAS 436
    Length:436
    Mass (Da):48,080
    Last modified:May 30, 2006 - v2
    Checksum:i128C0D87C0850E8E
    GO
    Isoform 2 (identifier: Q9Y664-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-240: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:196
    Mass (Da):21,583
    Checksum:i91ECF26D92428E17
    GO

    Sequence cautioni

    The sequence AAD39358.1 differs from that shown. Reason: Frameshift at positions 8, 14, 410 and 419.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti26 – 261S → N in AAD39358. (PubMed:1372044)Curated
    Sequence conflicti26 – 261S → N in AAF98790. (PubMed:1372044)Curated
    Sequence conflicti121 – 1211P → T in AAD39358. (PubMed:1372044)Curated
    Sequence conflicti121 – 1211P → T in AAF98790. (PubMed:1372044)Curated
    Sequence conflicti124 – 1241E → V in AAD39358. (PubMed:1372044)Curated
    Sequence conflicti124 – 1241E → V in AAF98790. (PubMed:1372044)Curated
    Sequence conflicti128 – 1281D → V in AAD39358. (PubMed:1372044)Curated
    Sequence conflicti128 – 1281D → V in AAF98790. (PubMed:1372044)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti241 – 2411M → MWSVLQ in MRT41; the mutant proteins do not accumulate to F-actin-rich lamellipodia but instead accumulate at irregular perinuclear sites.
    VAR_070974

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 240240Missing in isoform 2. 1 PublicationVSP_053990Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105369 mRNA. Translation: AAD39358.1. Frameshift.
    AF243529 Genomic DNA. Translation: AAF98790.1. Frameshift.
    AK023996 mRNA. Translation: BAG51248.1.
    AK298672 mRNA. Translation: BAG60838.1.
    AC073548 Genomic DNA. No translation available.
    CH471126 Genomic DNA. Translation: EAW57487.1.
    BC009249 mRNA. Translation: AAH09249.1.
    CCDSiCCDS42583.1. [Q9Y664-1]
    RefSeqiNP_001278225.1. NM_001291296.1.
    NP_008990.2. NM_007059.3. [Q9Y664-1]
    UniGeneiHs.25441.

    Genome annotation databases

    EnsembliENST00000338134; ENSP00000337850; ENSG00000118162. [Q9Y664-1]
    GeneIDi11133.
    KEGGihsa:11133.
    UCSCiuc002pgy.3. human. [Q9Y664-1]

    Polymorphism databases

    DMDMi108936022.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105369 mRNA. Translation: AAD39358.1 . Frameshift.
    AF243529 Genomic DNA. Translation: AAF98790.1 . Frameshift.
    AK023996 mRNA. Translation: BAG51248.1 .
    AK298672 mRNA. Translation: BAG60838.1 .
    AC073548 Genomic DNA. No translation available.
    CH471126 Genomic DNA. Translation: EAW57487.1 .
    BC009249 mRNA. Translation: AAH09249.1 .
    CCDSi CCDS42583.1. [Q9Y664-1 ]
    RefSeqi NP_001278225.1. NM_001291296.1.
    NP_008990.2. NM_007059.3. [Q9Y664-1 ]
    UniGenei Hs.25441.

    3D structure databases

    ProteinModelPortali Q9Y664.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116306. 7 interactions.
    IntActi Q9Y664. 1 interaction.
    STRINGi 9606.ENSP00000337850.

    PTM databases

    PhosphoSitei Q9Y664.

    Polymorphism databases

    DMDMi 108936022.

    Proteomic databases

    MaxQBi Q9Y664.
    PaxDbi Q9Y664.
    PRIDEi Q9Y664.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338134 ; ENSP00000337850 ; ENSG00000118162 . [Q9Y664-1 ]
    GeneIDi 11133.
    KEGGi hsa:11133.
    UCSCi uc002pgy.3. human. [Q9Y664-1 ]

    Organism-specific databases

    CTDi 11133.
    GeneCardsi GC19M047978.
    HGNCi HGNC:6404. KPTN.
    HPAi HPA041710.
    HPA041796.
    MIMi 615620. gene.
    615637. phenotype.
    neXtProti NX_Q9Y664.
    PharmGKBi PA30194.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG38850.
    HOGENOMi HOG000008052.
    HOVERGENi HBG061148.
    InParanoidi Q9Y664.
    OMAi CQSGYVR.
    OrthoDBi EOG7TTQ7H.
    PhylomeDBi Q9Y664.
    TreeFami TF328973.

    Miscellaneous databases

    ChiTaRSi KPTN. human.
    GeneWikii Kaptin_(actin_binding_protein).
    GenomeRNAii 11133.
    NextBioi 35474063.
    PROi Q9Y664.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y664.
    Bgeei Q9Y664.
    CleanExi HS_KPTN.
    Genevestigatori Q9Y664.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells."
      Bearer E.L.
      J. Neurosci. 12:750-761(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
    2. "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear."
      Bearer E.L., Abraham M.T.
      Eur. J. Cell Biol. 78:117-126(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, SUBCELLULAR LOCATION.
    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 AND 2).
    4. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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] (ISOFORM 1).
      Tissue: Muscle.
    7. "2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4."
      Bearer E.L., Chen A.F., Chen A.H., Li Z., Mark H.-F., Smith R.J.H., Jackson C.L.
      Ann. Hum. Genet. 64:189-196(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, POSSIBLE INVOLVEMENT IN HEARING LOSS.
    8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: FUNCTION, VARIANT MRT41 241-MET--GLN-246 INS, CHARACTERIZATION OF VARIANT MRT41 241-MET--GLN-246 INS.

    Entry informationi

    Entry nameiKPTN_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y664
    Secondary accession number(s): B3KN86, B4DQ76, Q96GT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: May 30, 2006
    Last modified: October 1, 2014
    This is version 95 of the entry and version 2 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 19
      Human chromosome 19: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3