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Q9P2G3

- KLH14_HUMAN

UniProt

Q9P2G3 - KLH14_HUMAN

Protein

Kelch-like protein 14

Gene

KLHL14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (08 Nov 2005)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch-like protein 14
    Alternative name(s):
    Protein interactor of Torsin-1A
    Short name:
    Printor
    Short name:
    Protein interactor of torsinA
    Gene namesi
    Name:KLHL14
    Synonyms:KIAA1384
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:29266. KLHL14.

    Subcellular locationi

    Cytoplasmcytosol 1 Publication. Endoplasmic reticulum membrane 1 Publication
    Note: Colocalizes with TOR1A at the endoplasmic reticulum level.

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. endoplasmic reticulum Source: MGI
    3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    4. neuronal cell body Source: Ensembl
    5. neuron projection Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134945930.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 628628Kelch-like protein 14PRO_0000119117Add
    BLAST

    Proteomic databases

    MaxQBiQ9P2G3.
    PaxDbiQ9P2G3.
    PRIDEiQ9P2G3.

    PTM databases

    PhosphoSiteiQ9P2G3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9P2G3.
    BgeeiQ9P2G3.
    CleanExiHS_KLHL14.
    GenevestigatoriQ9P2G3.

    Organism-specific databases

    HPAiHPA024777.

    Interactioni

    Subunit structurei

    Interacts with TOR1A, preferentially with the ATP-free form.1 Publication

    Protein-protein interaction databases

    BioGridi121619. 2 interactions.
    IntActiQ9P2G3. 1 interaction.
    STRINGi9606.ENSP00000352314.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P2G3.
    SMRiQ9P2G3. Positions 14-303, 322-600.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini33 – 151119BTBPROSITE-ProRule annotationAdd
    BLAST
    Domaini210 – 27970BACKAdd
    BLAST
    Repeati323 – 37250Kelch 1Add
    BLAST
    Repeati373 – 42452Kelch 2Add
    BLAST
    Repeati425 – 47147Kelch 3Add
    BLAST
    Repeati473 – 51846Kelch 4Add
    BLAST
    Repeati520 – 57051Kelch 5Add
    BLAST
    Repeati572 – 62049Kelch 6Add
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 6 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG284750.
    HOGENOMiHOG000231583.
    HOVERGENiHBG102469.
    InParanoidiQ9P2G3.
    KOiK10451.
    OMAiACLPFNK.
    OrthoDBiEOG79W94K.
    PhylomeDBiQ9P2G3.
    TreeFamiTF328485.

    Family and domain databases

    Gene3Di2.120.10.80. 1 hit.
    3.30.710.10. 2 hits.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 2 hits.
    PF01344. Kelch_1. 4 hits.
    [Graphical view]
    PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 2 hits.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P2G3-1) [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

    MSRSGDRTST FDPSHSDNLL HGLNLLWRKQ LFCDVTLTAQ GQQFHCHKAV    50
    LASCSQYFRS LFSSHPPLGG GVGGQDGLGA PKDQQQPPQQ QPSQQQQPPP 100
    QEEPGTPSSS PDDKLLTSPR AINNLVLQGC SSIGLRLVLE YLYTANVTLS 150
    LDTVEEVLSV SKILHIPQVT KLCVQFLNDQ ISVQNYKQVC KIAALHGLEE 200
    TKKLANKYLV EDVLLLNFEE MRALLDSLPP PVESELALFQ MSVLWLEHDR 250
    ETRMQYAPDL MKRLRFALIP APELVERVQS VDFMRTDPVC QKLLLDAMNY 300
    HLMPFRQHCR QSLASRIRSN KKMLLLVGGL PPGPDRLPSN LVQYYDDEKK 350
    TWKILTIMPY NSAHHCVVEV ENFLFVLGGE DQWNPNGKHS TNFVSRYDPR 400
    FNSWIQLPPM QERRASFYAC RLDKHLYVIG GRNETGYLSS VECYNLETNE 450
    WRYVSSLPQP LAAHAGAVHN GKIYISGGVH NGEYVPWLYC YDPVMDVWAR 500
    KQDMNTKRAI HTLAVMNDRL YAIGGNHLKG FSHLDVMLVE CYDPKGDQWN 550
    ILQTPILEGR SGPGCAVLDD SIYLVGGYSW SMGAYKSSTI CYCPEKGTWT 600
    ELEGDVAEPL AGPACVTVIL PSCVPYNK 628
    Length:628
    Mass (Da):70,714
    Last modified:November 8, 2005 - v2
    Checksum:iCF642DAA16F8A718
    GO
    Isoform 2 (identifier: Q9P2G3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         358-388: MPYNSAHHCVVEVENFLFVLGGEDQWNPNGK → TGPHPISGKQESASSPEFRRRKTREFSNNTM
         389-628: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:388
    Mass (Da):43,792
    Checksum:i60A7411D7360FDA7
    GO

    Sequence cautioni

    The sequence BAA92622.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAG58061.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei358 – 38831MPYNS…NPNGK → TGPHPISGKQESASSPEFRR RKTREFSNNTM in isoform 2. 1 PublicationVSP_041342Add
    BLAST
    Alternative sequencei389 – 628240Missing in isoform 2. 1 PublicationVSP_041343Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037805 mRNA. Translation: BAA92622.1. Different initiation.
    AC025887 Genomic DNA. No translation available.
    CH471088 Genomic DNA. Translation: EAX01296.1.
    CH471088 Genomic DNA. Translation: EAX01295.1.
    BC021267 mRNA. Translation: AAH21267.1.
    AK294996 mRNA. Translation: BAG58061.1. Different initiation.
    CCDSiCCDS32813.1. [Q9P2G3-1]
    RefSeqiNP_065856.1. NM_020805.1. [Q9P2G3-1]
    UniGeneiHs.446164.

    Genome annotation databases

    EnsembliENST00000358095; ENSP00000350808; ENSG00000197705. [Q9P2G3-2]
    ENST00000359358; ENSP00000352314; ENSG00000197705. [Q9P2G3-1]
    GeneIDi57565.
    KEGGihsa:57565.
    UCSCiuc002kxm.1. human. [Q9P2G3-1]

    Polymorphism databases

    DMDMi81175180.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037805 mRNA. Translation: BAA92622.1 . Different initiation.
    AC025887 Genomic DNA. No translation available.
    CH471088 Genomic DNA. Translation: EAX01296.1 .
    CH471088 Genomic DNA. Translation: EAX01295.1 .
    BC021267 mRNA. Translation: AAH21267.1 .
    AK294996 mRNA. Translation: BAG58061.1 . Different initiation.
    CCDSi CCDS32813.1. [Q9P2G3-1 ]
    RefSeqi NP_065856.1. NM_020805.1. [Q9P2G3-1 ]
    UniGenei Hs.446164.

    3D structure databases

    ProteinModelPortali Q9P2G3.
    SMRi Q9P2G3. Positions 14-303, 322-600.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121619. 2 interactions.
    IntActi Q9P2G3. 1 interaction.
    STRINGi 9606.ENSP00000352314.

    PTM databases

    PhosphoSitei Q9P2G3.

    Polymorphism databases

    DMDMi 81175180.

    Proteomic databases

    MaxQBi Q9P2G3.
    PaxDbi Q9P2G3.
    PRIDEi Q9P2G3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358095 ; ENSP00000350808 ; ENSG00000197705 . [Q9P2G3-2 ]
    ENST00000359358 ; ENSP00000352314 ; ENSG00000197705 . [Q9P2G3-1 ]
    GeneIDi 57565.
    KEGGi hsa:57565.
    UCSCi uc002kxm.1. human. [Q9P2G3-1 ]

    Organism-specific databases

    CTDi 57565.
    GeneCardsi GC18M030252.
    HGNCi HGNC:29266. KLHL14.
    HPAi HPA024777.
    MIMi 613772. gene.
    neXtProti NX_Q9P2G3.
    PharmGKBi PA134945930.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284750.
    HOGENOMi HOG000231583.
    HOVERGENi HBG102469.
    InParanoidi Q9P2G3.
    KOi K10451.
    OMAi ACLPFNK.
    OrthoDBi EOG79W94K.
    PhylomeDBi Q9P2G3.
    TreeFami TF328485.

    Miscellaneous databases

    GenomeRNAii 57565.
    NextBioi 64074.
    PROi Q9P2G3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9P2G3.
    Bgeei Q9P2G3.
    CleanExi HS_KLHL14.
    Genevestigatori Q9P2G3.

    Family and domain databases

    Gene3Di 2.120.10.80. 1 hit.
    3.30.710.10. 2 hits.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 2 hits.
    PF01344. Kelch_1. 4 hits.
    [Graphical view ]
    PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 2 hits.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2).
      Tissue: Kidney.
    5. "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 126-628 (ISOFORM 1).
      Tissue: Brain.
    6. "Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis."
      Giles L.M., Li L., Chin L.S.
      J. Biol. Chem. 284:21765-21775(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TOR1A, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiKLH14_HUMAN
    AccessioniPrimary (citable) accession number: Q9P2G3
    Secondary accession number(s): A6NNW1, B4DHA0, Q8WU41
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 2001
    Last sequence update: November 8, 2005
    Last modified: October 1, 2014
    This is version 109 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 18
      Human chromosome 18: 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