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Q8NEP7

- KLDC9_HUMAN

UniProt

Q8NEP7 - KLDC9_HUMAN

Protein

Kelch domain-containing protein 9

Gene

KLHDC9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (04 Jan 2005)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch domain-containing protein 9
    Alternative name(s):
    Kelch/ankyrin repeat-containing cyclin A1-interacting protein
    Gene namesi
    Name:KLHDC9
    Synonyms:KARCA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28489. KLHDC9.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162393459.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 349349Kelch domain-containing protein 9PRO_0000300464Add
    BLAST

    Proteomic databases

    PaxDbiQ8NEP7.
    PRIDEiQ8NEP7.

    PTM databases

    PhosphoSiteiQ8NEP7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8NEP7.
    BgeeiQ8NEP7.
    CleanExiHS_KLHDC9.
    GenevestigatoriQ8NEP7.

    Organism-specific databases

    HPAiHPA032058.

    Interactioni

    Subunit structurei

    Interacts with CCNA1.1 Publication

    Protein-protein interaction databases

    BioGridi126019. 1 interaction.
    STRINGi9606.ENSP00000356990.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEP7.
    SMRiQ8NEP7. Positions 16-141.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati39 – 8951Kelch 1Add
    BLAST
    Repeati91 – 13747Kelch 2Add
    BLAST
    Repeati325 – 34925Kelch 3Add
    BLAST

    Sequence similaritiesi

    Contains 3 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG268714.
    HOGENOMiHOG000113234.
    HOVERGENiHBG101178.
    InParanoidiQ8NEP7.
    OMAiVAPHLME.
    OrthoDBiEOG7RNK0F.
    PhylomeDBiQ8NEP7.
    TreeFamiTF337916.

    Family and domain databases

    Gene3Di2.120.10.80. 2 hits.
    InterProiIPR011043. Gal_Oxase/kelch_b-propeller.
    IPR015915. Kelch-typ_b-propeller.
    [Graphical view]
    SUPFAMiSSF50965. SSF50965. 2 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEP7-1) [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

    MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG    50
    AREPSSDTVV FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG 100
    SRRLATVTAL DTERGVWEAW TGTPGDCPPA GLSSHTCTRI SDRELQVAGR 150
    EGGIHTQRRY GSIYTLRLDP SARTYCYKQE GCHTASRSGH CAALLQTPGP 200
    HPGHQLLLFG GCNLAEPEVA GHWSHGKIKE EPPVAPHLME QLARLVSSGQ 250
    GSQKGPHGLR HHSCSVVGPF AVLFGGETLT RARDTICNDL YIYDTRTSPP 300
    LWFHFPCADR GMKRMGHRTC LWNDQLYLVG GFGEDGRTAS PQVCILDFI 349
    Length:349
    Mass (Da):37,754
    Last modified:January 4, 2005 - v2
    Checksum:i034F41898BDE0BBB
    GO
    Isoform 2 (identifier: Q8NEP7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         230-288: EEPPVAPHLM...LTRARDTICN → SFLSPQGGTT...AVWWRNSDQS
         289-349: Missing.

    Show »
    Length:288
    Mass (Da):30,682
    Checksum:iF3D681F077396E10
    GO
    Isoform 3 (identifier: Q8NEP7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         176-263: CYKQEGCHTA...KGPHGLRHHS → WYGTLRPKPF...LTFSRKPTQP
         264-349: Missing.

    Show »
    Length:263
    Mass (Da):28,527
    Checksum:i1788E87659EF9F18
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti83 – 831D → G in BAC04114. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti171 – 1711S → R.
    Corresponds to variant rs11576830 [ dbSNP | Ensembl ].
    VAR_034873
    Natural varianti282 – 2821A → T.1 Publication
    Corresponds to variant rs1128750 [ dbSNP | Ensembl ].
    VAR_050056
    Natural varianti288 – 2881N → S.
    Corresponds to variant rs1128750 [ dbSNP | Ensembl ].
    VAR_034874

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei176 – 26388CYKQE…LRHHS → WYGTLRPKPFTLIHTLEKQK PKQISQAIYPPPHSSTLLPG EPTMFKLAELSTVLPSLLSH LPHCPMPLLHPSLARAVALT FSRKPTQP in isoform 3. 2 PublicationsVSP_027807Add
    BLAST
    Alternative sequencei230 – 28859EEPPV…DTICN → SFLSPQGGTTCCSSFDGTAC KACEQWAGVPEGAPWTTASL MFCGRALCCAVWWRNSDQS in isoform 2. 1 PublicationVSP_027808Add
    BLAST
    Alternative sequencei264 – 34986Missing in isoform 3. 2 PublicationsVSP_027809Add
    BLAST
    Alternative sequencei289 – 34961Missing in isoform 2. 1 PublicationVSP_027810Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY601914 mRNA. Translation: AAT09158.1.
    AK093268 mRNA. Translation: BAC04114.1.
    AL591806 Genomic DNA. Translation: CAI15377.1.
    CH471121 Genomic DNA. Translation: EAW52659.1.
    CH471121 Genomic DNA. Translation: EAW52662.1.
    BC022077 mRNA. Translation: AAH22077.2.
    BC032482 mRNA. Translation: AAH32482.1.
    BC066896 mRNA. Translation: AAH66896.1.
    CCDSiCCDS30919.1. [Q8NEP7-1]
    CCDS41425.1. [Q8NEP7-2]
    RefSeqiNP_001007256.1. NM_001007255.2. [Q8NEP7-2]
    NP_689579.3. NM_152366.4. [Q8NEP7-1]
    UniGeneiHs.507290.

    Genome annotation databases

    EnsembliENST00000368011; ENSP00000356990; ENSG00000162755. [Q8NEP7-1]
    ENST00000392192; ENSP00000376030; ENSG00000162755. [Q8NEP7-2]
    GeneIDi126823.
    KEGGihsa:126823.
    UCSCiuc001fxr.3. human. [Q8NEP7-1]
    uc001fxs.3. human. [Q8NEP7-2]
    uc021pbu.1. human. [Q8NEP7-3]

    Polymorphism databases

    DMDMi74751256.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY601914 mRNA. Translation: AAT09158.1 .
    AK093268 mRNA. Translation: BAC04114.1 .
    AL591806 Genomic DNA. Translation: CAI15377.1 .
    CH471121 Genomic DNA. Translation: EAW52659.1 .
    CH471121 Genomic DNA. Translation: EAW52662.1 .
    BC022077 mRNA. Translation: AAH22077.2 .
    BC032482 mRNA. Translation: AAH32482.1 .
    BC066896 mRNA. Translation: AAH66896.1 .
    CCDSi CCDS30919.1. [Q8NEP7-1 ]
    CCDS41425.1. [Q8NEP7-2 ]
    RefSeqi NP_001007256.1. NM_001007255.2. [Q8NEP7-2 ]
    NP_689579.3. NM_152366.4. [Q8NEP7-1 ]
    UniGenei Hs.507290.

    3D structure databases

    ProteinModelPortali Q8NEP7.
    SMRi Q8NEP7. Positions 16-141.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126019. 1 interaction.
    STRINGi 9606.ENSP00000356990.

    PTM databases

    PhosphoSitei Q8NEP7.

    Polymorphism databases

    DMDMi 74751256.

    Proteomic databases

    PaxDbi Q8NEP7.
    PRIDEi Q8NEP7.

    Protocols and materials databases

    DNASUi 126823.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368011 ; ENSP00000356990 ; ENSG00000162755 . [Q8NEP7-1 ]
    ENST00000392192 ; ENSP00000376030 ; ENSG00000162755 . [Q8NEP7-2 ]
    GeneIDi 126823.
    KEGGi hsa:126823.
    UCSCi uc001fxr.3. human. [Q8NEP7-1 ]
    uc001fxs.3. human. [Q8NEP7-2 ]
    uc021pbu.1. human. [Q8NEP7-3 ]

    Organism-specific databases

    CTDi 126823.
    GeneCardsi GC01P161068.
    HGNCi HGNC:28489. KLHDC9.
    HPAi HPA032058.
    neXtProti NX_Q8NEP7.
    PharmGKBi PA162393459.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG268714.
    HOGENOMi HOG000113234.
    HOVERGENi HBG101178.
    InParanoidi Q8NEP7.
    OMAi VAPHLME.
    OrthoDBi EOG7RNK0F.
    PhylomeDBi Q8NEP7.
    TreeFami TF337916.

    Miscellaneous databases

    GenomeRNAii 126823.
    NextBioi 81931.
    PROi Q8NEP7.

    Gene expression databases

    ArrayExpressi Q8NEP7.
    Bgeei Q8NEP7.
    CleanExi HS_KLHDC9.
    Genevestigatori Q8NEP7.

    Family and domain databases

    Gene3Di 2.120.10.80. 2 hits.
    InterProi IPR011043. Gal_Oxase/kelch_b-propeller.
    IPR015915. Kelch-typ_b-propeller.
    [Graphical view ]
    SUPFAMi SSF50965. SSF50965. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH CCNA1.
    2. "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] (ISOFORM 3).
      Tissue: Testis.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 3), VARIANT THR-282.
      Tissue: Pancreas and Testis.

    Entry informationi

    Entry nameiKLDC9_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEP7
    Secondary accession number(s): Q5SY56
    , Q6NXT9, Q6PKN4, Q8N5E1, Q8NA16
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: January 4, 2005
    Last modified: October 1, 2014
    This is version 96 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 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3