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Q9NYY8

- FAKD2_HUMAN

UniProt

Q9NYY8 - FAKD2_HUMAN

Protein

FAST kinase domain-containing protein 2

Gene

FASTKD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB
    2. protein kinase activity Source: InterPro

    GO - Biological processi

    1. cellular respiration Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    FAST kinase domain-containing protein 2
    Gene namesi
    Name:FASTKD2
    Synonyms:KIAA0971
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:29160. FASTKD2.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti166105. FASTKD2-related infantile mitochondrial encephalomyopathy.
    254905. Isolated cytochrome C oxidase deficiency.
    PharmGKBiPA134974924.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 710710FAST kinase domain-containing protein 2PRO_0000050783Add
    BLAST

    Proteomic databases

    MaxQBiQ9NYY8.
    PaxDbiQ9NYY8.
    PRIDEiQ9NYY8.

    PTM databases

    PhosphoSiteiQ9NYY8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NYY8.
    BgeeiQ9NYY8.
    CleanExiHS_FASTKD2.
    GenevestigatoriQ9NYY8.

    Interactioni

    Protein-protein interaction databases

    BioGridi116535. 3 interactions.
    IntActiQ9NYY8. 2 interactions.
    MINTiMINT-8051813.
    STRINGi9606.ENSP00000236980.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NYY8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini634 – 69158RAPPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the FAST kinase family.Curated
    Contains 1 RAP domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG71058.
    HOGENOMiHOG000112491.
    HOVERGENiHBG081516.
    InParanoidiQ9NYY8.
    KOiK18190.
    OMAiINILQSC.
    OrthoDBiEOG7TBC2C.
    PhylomeDBiQ9NYY8.
    TreeFamiTF352875.

    Family and domain databases

    InterProiIPR013579. FAST_2.
    IPR010622. FAST_Leu-rich.
    IPR013584. RAP.
    [Graphical view]
    PfamiPF06743. FAST_1. 1 hit.
    PF08368. FAST_2. 1 hit.
    PF08373. RAP. 1 hit.
    [Graphical view]
    SMARTiSM00952. RAP. 1 hit.
    [Graphical view]
    PROSITEiPS51286. RAP. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NYY8-1) [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

    MLTTLKPFGS VSVESKMNNK AGSFFWNLRQ FSTLVSTSRT MRLCCLGLCK    50
    PKIVHSNWNI LNNFHNRMQS TDIIRYLFQD AFIFKSDVGF QTKGISTLTA 100
    LRIERLLYAK RLFFDSKQSL VPVDKSDDEL KKVNLNHEVS NEDVLTKETK 150
    PNRISSRKLS EECNSLSDVL DAFSKAPTFP SSNYFTAMWT IAKRLSDDQK 200
    RFEKRLMFSH PAFNQLCEHM MREAKIMQYK YLLFSLHAIV KLGIPQNTIL 250
    VQTLLRVTQE RINECDEICL SVLSTVLEAM EPCKNVHVLR TGFRILVDQQ 300
    VWKIEDVFTL QVVMKCIGKD APIALKRKLE MKALRELDRF SVLNSQHMFE 350
    VLAAMNHRSL ILLDECSKVV LDNIHGCPLR IMINILQSCK DLQYHNLDLF 400
    KGLADYVAAT FDIWKFRKVL FILILFENLG FRPVGLMDLF MKRIVEDPES 450
    LNMKNILSIL HTYSSLNHVY KCQNKEQFVE VMASALTGYL HTISSENLLD 500
    AVYSFCLMNY FPLAPFNQLL QKDIISELLT SDDMKNAYKL HTLDTCLKLD 550
    DTVYLRDIAL SLPQLPRELP SSHTNAKVAE VLSSLLGGEG HFSKDVHLPH 600
    NYHIDFEIRM DTNRNQVLPL SDVDTTSATD IQRVAVLCVS RSAYCLGSSH 650
    PRGFLAMKMR HLNAMGFHVI LVNNWEMDKL EMEDAVTFLK TKIYSVEALP 700
    VAAVNVQSTQ 710
    Length:710
    Mass (Da):81,463
    Last modified:October 1, 2000 - v1
    Checksum:i11BF1D5A0CF1DA15
    GO
    Isoform 2 (identifier: Q9NYY8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         634-648: VAVLCVSRSAYCLGS → LLTYISFAGLSELKS
         649-710: Missing.

    Show »
    Length:648
    Mass (Da):74,536
    Checksum:i603D468791E4A804
    GO

    Sequence cautioni

    The sequence BAA76815.2 differs from that shown. Reason: Erroneous initiation.
    The sequence BAA91617.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151S → N.
    Corresponds to variant rs3762568 [ dbSNP | Ensembl ].
    VAR_053889
    Natural varianti445 – 4451V → E.
    Corresponds to variant rs13003768 [ dbSNP | Ensembl ].
    VAR_053890

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei634 – 64815VAVLC…YCLGS → LLTYISFAGLSELKS in isoform 2. 1 PublicationVSP_017186Add
    BLAST
    Alternative sequencei649 – 71062Missing in isoform 2. 1 PublicationVSP_017187Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB023188 mRNA. Translation: BAA76815.2. Different initiation.
    AF223470 mRNA. Translation: AAF64145.1.
    AL833877 mRNA. Translation: CAD38734.1.
    AC008269 Genomic DNA. Translation: AAX93275.1.
    BC001544 mRNA. Translation: AAH01544.1.
    AK001315 mRNA. Translation: BAA91617.1. Different initiation.
    CCDSiCCDS2371.1. [Q9NYY8-1]
    RefSeqiNP_001129665.1. NM_001136193.1. [Q9NYY8-1]
    NP_001129666.1. NM_001136194.1. [Q9NYY8-1]
    NP_055744.2. NM_014929.3. [Q9NYY8-1]
    UniGeneiHs.5930.
    Hs.722628.

    Genome annotation databases

    EnsembliENST00000236980; ENSP00000236980; ENSG00000118246. [Q9NYY8-1]
    ENST00000402774; ENSP00000385990; ENSG00000118246. [Q9NYY8-1]
    ENST00000403094; ENSP00000384929; ENSG00000118246. [Q9NYY8-1]
    GeneIDi22868.
    KEGGihsa:22868.
    UCSCiuc002vbu.3. human. [Q9NYY8-1]
    uc002vbw.1. human. [Q9NYY8-2]

    Polymorphism databases

    DMDMi74734717.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB023188 mRNA. Translation: BAA76815.2 . Different initiation.
    AF223470 mRNA. Translation: AAF64145.1 .
    AL833877 mRNA. Translation: CAD38734.1 .
    AC008269 Genomic DNA. Translation: AAX93275.1 .
    BC001544 mRNA. Translation: AAH01544.1 .
    AK001315 mRNA. Translation: BAA91617.1 . Different initiation.
    CCDSi CCDS2371.1. [Q9NYY8-1 ]
    RefSeqi NP_001129665.1. NM_001136193.1. [Q9NYY8-1 ]
    NP_001129666.1. NM_001136194.1. [Q9NYY8-1 ]
    NP_055744.2. NM_014929.3. [Q9NYY8-1 ]
    UniGenei Hs.5930.
    Hs.722628.

    3D structure databases

    ProteinModelPortali Q9NYY8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116535. 3 interactions.
    IntActi Q9NYY8. 2 interactions.
    MINTi MINT-8051813.
    STRINGi 9606.ENSP00000236980.

    PTM databases

    PhosphoSitei Q9NYY8.

    Polymorphism databases

    DMDMi 74734717.

    Proteomic databases

    MaxQBi Q9NYY8.
    PaxDbi Q9NYY8.
    PRIDEi Q9NYY8.

    Protocols and materials databases

    DNASUi 22868.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000236980 ; ENSP00000236980 ; ENSG00000118246 . [Q9NYY8-1 ]
    ENST00000402774 ; ENSP00000385990 ; ENSG00000118246 . [Q9NYY8-1 ]
    ENST00000403094 ; ENSP00000384929 ; ENSG00000118246 . [Q9NYY8-1 ]
    GeneIDi 22868.
    KEGGi hsa:22868.
    UCSCi uc002vbu.3. human. [Q9NYY8-1 ]
    uc002vbw.1. human. [Q9NYY8-2 ]

    Organism-specific databases

    CTDi 22868.
    GeneCardsi GC02P207630.
    HGNCi HGNC:29160. FASTKD2.
    MIMi 612322. gene.
    neXtProti NX_Q9NYY8.
    Orphaneti 166105. FASTKD2-related infantile mitochondrial encephalomyopathy.
    254905. Isolated cytochrome C oxidase deficiency.
    PharmGKBi PA134974924.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG71058.
    HOGENOMi HOG000112491.
    HOVERGENi HBG081516.
    InParanoidi Q9NYY8.
    KOi K18190.
    OMAi INILQSC.
    OrthoDBi EOG7TBC2C.
    PhylomeDBi Q9NYY8.
    TreeFami TF352875.

    Miscellaneous databases

    ChiTaRSi FASTKD2. human.
    GenomeRNAii 22868.
    NextBioi 43391.
    PROi Q9NYY8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NYY8.
    Bgeei Q9NYY8.
    CleanExi HS_FASTKD2.
    Genevestigatori Q9NYY8.

    Family and domain databases

    InterProi IPR013579. FAST_2.
    IPR010622. FAST_Leu-rich.
    IPR013584. RAP.
    [Graphical view ]
    Pfami PF06743. FAST_1. 1 hit.
    PF08368. FAST_2. 1 hit.
    PF08373. RAP. 1 hit.
    [Graphical view ]
    SMARTi SM00952. RAP. 1 hit.
    [Graphical view ]
    PROSITEi PS51286. RAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Adrenal gland.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Melanoma.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      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 1).
      Tissue: Placenta.
    6. "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] OF 442-710 (ISOFORM 1).
      Tissue: Teratocarcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiFAKD2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NYY8
    Secondary accession number(s): Q9NVX6, Q9Y2H7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 7, 2006
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 103 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

    It is uncertain whether Met-1 or Met-17 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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