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Q9BQD3

- KXDL1_HUMAN

UniProt

Q9BQD3 - KXDL1_HUMAN

Protein

KxDL motif-containing protein 1

Gene

KXD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 2 (24 Jul 2007)
      Previous versions | rss
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    Functioni

    Involved in endosomal cargo sorting.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. vesicle-mediated transport Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    KxDL motif-containing protein 1
    Gene namesi
    Name:KXD1
    Synonyms:C19orf50
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:28420. KXD1.

    Subcellular locationi

    GO - Cellular componenti

    1. BLOC-1 complex Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA147358357.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 176176KxDL motif-containing protein 1PRO_0000295259Add
    BLAST

    Amino acid modifications

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

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9BQD3.
    PaxDbiQ9BQD3.
    PRIDEiQ9BQD3.

    PTM databases

    PhosphoSiteiQ9BQD3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BQD3.
    BgeeiQ9BQD3.
    CleanExiHS_C19orf50.
    GenevestigatoriQ9BQD3.

    Organism-specific databases

    HPAiHPA041507.
    HPA041599.

    Interactioni

    Subunit structurei

    Associates with the BLOC-1 complex. Interacts with BLOC1S1. Interacts with DTNBP1/BLOC1S7 (via coiled-coil domain) By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    IFT20Q8IY312EBI-739657,EBI-744203
    KRT81Q145332EBI-739657,EBI-739648
    RABGEF1Q9UJ412EBI-739657,EBI-913954

    Protein-protein interaction databases

    BioGridi122501. 30 interactions.
    IntActiQ9BQD3. 34 interactions.
    MINTiMINT-1436809.
    STRINGi9606.ENSP00000222307.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BQD3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the KXD1 family.Curated

    Phylogenomic databases

    eggNOGiNOG324810.
    HOVERGENiHBG056564.
    InParanoidiQ9BQD3.
    OrthoDBiEOG7ZSHVD.
    PhylomeDBiQ9BQD3.
    TreeFamiTF319035.

    Family and domain databases

    InterProiIPR019371. Uncharacterised_KxDL.
    [Graphical view]
    PfamiPF10241. KxDL. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9BQD3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDLPDSASRV FCGRILSMVN TDDVNAIILA QKNMLDRFEK TNEMLLNFNN    50
    LSSARLQQMS ERFLHHTRTL VEMKRDLDSI FRRIRTLKGK LARQHPEAFS 100
    HIPEASFLEE EDEDPIPPST TTTIATSEQS TGSCDTSPDT VSPSLSPGFE 150
    DLSHVQPGSP AINGRSQTDD EEMTGE 176
    Length:176
    Mass (Da):19,668
    Last modified:July 24, 2007 - v2
    Checksum:i182BDB421BE2D3AA
    GO

    Sequence cautioni

    The sequence AAC25583.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti157 – 1571P → A.1 Publication
    Corresponds to variant rs7648 [ dbSNP | Ensembl ].
    VAR_033282

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC005253 Genomic DNA. Translation: AAC25583.1. Different initiation.
    BC001080 mRNA. Translation: AAH01080.1.
    BC006479 mRNA. Translation: AAH06479.1.
    CCDSiCCDS12381.1.
    RefSeqiNP_001165419.1. NM_001171948.1.
    NP_001165420.1. NM_001171949.1.
    NP_076974.2. NM_024069.3.
    XP_006722946.1. XM_006722883.1.
    UniGeneiHs.714548.

    Genome annotation databases

    EnsembliENST00000222307; ENSP00000222307; ENSG00000105700.
    ENST00000539106; ENSP00000438903; ENSG00000105700.
    ENST00000540691; ENSP00000443549; ENSG00000105700.
    ENST00000595073; ENSP00000471554; ENSG00000105700.
    ENST00000599319; ENSP00000468990; ENSG00000105700.
    ENST00000600654; ENSP00000472678; ENSG00000105700.
    ENST00000602094; ENSP00000472836; ENSG00000105700.
    GeneIDi79036.
    KEGGihsa:79036.
    UCSCiuc002njo.3. human.

    Polymorphism databases

    DMDMi156631010.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC005253 Genomic DNA. Translation: AAC25583.1 . Different initiation.
    BC001080 mRNA. Translation: AAH01080.1 .
    BC006479 mRNA. Translation: AAH06479.1 .
    CCDSi CCDS12381.1.
    RefSeqi NP_001165419.1. NM_001171948.1.
    NP_001165420.1. NM_001171949.1.
    NP_076974.2. NM_024069.3.
    XP_006722946.1. XM_006722883.1.
    UniGenei Hs.714548.

    3D structure databases

    ProteinModelPortali Q9BQD3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122501. 30 interactions.
    IntActi Q9BQD3. 34 interactions.
    MINTi MINT-1436809.
    STRINGi 9606.ENSP00000222307.

    PTM databases

    PhosphoSitei Q9BQD3.

    Polymorphism databases

    DMDMi 156631010.

    Proteomic databases

    MaxQBi Q9BQD3.
    PaxDbi Q9BQD3.
    PRIDEi Q9BQD3.

    Protocols and materials databases

    DNASUi 79036.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222307 ; ENSP00000222307 ; ENSG00000105700 .
    ENST00000539106 ; ENSP00000438903 ; ENSG00000105700 .
    ENST00000540691 ; ENSP00000443549 ; ENSG00000105700 .
    ENST00000595073 ; ENSP00000471554 ; ENSG00000105700 .
    ENST00000599319 ; ENSP00000468990 ; ENSG00000105700 .
    ENST00000600654 ; ENSP00000472678 ; ENSG00000105700 .
    ENST00000602094 ; ENSP00000472836 ; ENSG00000105700 .
    GeneIDi 79036.
    KEGGi hsa:79036.
    UCSCi uc002njo.3. human.

    Organism-specific databases

    CTDi 79036.
    GeneCardsi GC19P018669.
    HGNCi HGNC:28420. KXD1.
    HPAi HPA041507.
    HPA041599.
    MIMi 615178. gene.
    neXtProti NX_Q9BQD3.
    PharmGKBi PA147358357.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG324810.
    HOVERGENi HBG056564.
    InParanoidi Q9BQD3.
    OrthoDBi EOG7ZSHVD.
    PhylomeDBi Q9BQD3.
    TreeFami TF319035.

    Miscellaneous databases

    ChiTaRSi KXD1. human.
    GenomeRNAii 79036.
    NextBioi 67761.
    PROi Q9BQD3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BQD3.
    Bgeei Q9BQD3.
    CleanExi HS_C19orf50.
    Genevestigatori Q9BQD3.

    Family and domain databases

    InterProi IPR019371. Uncharacterised_KxDL.
    [Graphical view ]
    Pfami PF10241. KxDL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    2. "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], VARIANT ALA-157.
      Tissue: Lung.
    3. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiKXDL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BQD3
    Secondary accession number(s): O76098
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: July 24, 2007
    Last modified: October 1, 2014
    This is version 94 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. 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
    6. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3