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Q587J8

- KHD3L_HUMAN

UniProt

Q587J8 - KHD3L_HUMAN

Protein

KHDC3-like protein

Gene

KHDC3L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 70 (01 Oct 2014)
      Sequence version 1 (10 May 2005)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. RNA binding Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    KHDC3-like protein
    Alternative name(s):
    ES cell-associated transcript 1 protein
    Gene namesi
    Name:KHDC3L
    Synonyms:C6orf221, ECAT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:33699. KHDC3L.

    Pathology & Biotechi

    Involvement in diseasei

    Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi614293. phenotype.
    Orphaneti254688. Complete hydatidiform mole.
    PharmGKBiPA162380388.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 217217KHDC3-like proteinPRO_0000311967Add
    BLAST

    Proteomic databases

    PaxDbiQ587J8.
    PRIDEiQ587J8.

    Expressioni

    Tissue specificityi

    Expression appears to be maximal in germinal vesicle oocytes, it tails off through metaphase II oocytes and is undetectable following the completion of the oocyte to embryo transition.1 Publication

    Gene expression databases

    BgeeiQ587J8.
    CleanExiHS_C6orf221.
    GenevestigatoriQ587J8.

    Organism-specific databases

    HPAiHPA043699.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000359392.

    Structurei

    3D structure databases

    ProteinModelPortaliQ587J8.
    SMRiQ587J8. Positions 5-111.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 10364KH; atypicalAdd
    BLAST

    Domaini

    Contains an atypical KH domain with amino acid changes at critical sites, suggesting that it may not bind RNA.

    Sequence similaritiesi

    Belongs to the KHDC1 family.Curated
    Contains 1 KH domain.Curated

    Phylogenomic databases

    eggNOGiNOG76063.
    HOGENOMiHOG000112316.
    HOVERGENiHBG100393.
    InParanoidiQ587J8.
    OMAiVWLVEKI.
    OrthoDBiEOG7F512X.
    PhylomeDBiQ587J8.
    TreeFamiTF338690.

    Family and domain databases

    InterProiIPR004088. KH_dom_type_1.
    [Graphical view]
    SUPFAMiSSF54791. SSF54791. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q587J8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW    50
    LVEKIFGRGG ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI 100
    KMIMNLADYH RQLQAKGSGK ALAQDVATQK AETQRSSIEV REAGTQRSVE 150
    VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ QSLQAANKSG TQRSPEAASK 200
    AVTQRFREDA RDPVTRL 217
    Length:217
    Mass (Da):24,306
    Last modified:May 10, 2005 - v1
    Checksum:iC36BC89949DB8606
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti97 – 971E → Q.
    Corresponds to variant rs564533 [ dbSNP | Ensembl ].
    VAR_054052
    Natural varianti201 – 2011A → G.
    Corresponds to variant rs561930 [ dbSNP | Ensembl ].
    VAR_054053

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB211062 mRNA. Translation: BAD95489.1.
    BC132844 mRNA. Translation: AAI32845.1.
    BC137160 mRNA. Translation: AAI37161.1.
    CCDSiCCDS34484.1.
    RefSeqiNP_001017361.1. NM_001017361.2.
    UniGeneiHs.128326.

    Genome annotation databases

    EnsembliENST00000370367; ENSP00000359392; ENSG00000203908.
    GeneIDi154288.
    KEGGihsa:154288.
    UCSCiuc003pgt.4. human.

    Polymorphism databases

    DMDMi74721670.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB211062 mRNA. Translation: BAD95489.1 .
    BC132844 mRNA. Translation: AAI32845.1 .
    BC137160 mRNA. Translation: AAI37161.1 .
    CCDSi CCDS34484.1.
    RefSeqi NP_001017361.1. NM_001017361.2.
    UniGenei Hs.128326.

    3D structure databases

    ProteinModelPortali Q587J8.
    SMRi Q587J8. Positions 5-111.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000359392.

    Polymorphism databases

    DMDMi 74721670.

    Proteomic databases

    PaxDbi Q587J8.
    PRIDEi Q587J8.

    Protocols and materials databases

    DNASUi 154288.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370367 ; ENSP00000359392 ; ENSG00000203908 .
    GeneIDi 154288.
    KEGGi hsa:154288.
    UCSCi uc003pgt.4. human.

    Organism-specific databases

    CTDi 154288.
    GeneCardsi GC06P074073.
    HGNCi HGNC:33699. KHDC3L.
    HPAi HPA043699.
    MIMi 611687. gene.
    614293. phenotype.
    neXtProti NX_Q587J8.
    Orphaneti 254688. Complete hydatidiform mole.
    PharmGKBi PA162380388.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG76063.
    HOGENOMi HOG000112316.
    HOVERGENi HBG100393.
    InParanoidi Q587J8.
    OMAi VWLVEKI.
    OrthoDBi EOG7F512X.
    PhylomeDBi Q587J8.
    TreeFami TF338690.

    Miscellaneous databases

    GenomeRNAii 154288.
    NextBioi 87263.
    PROi Q587J8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q587J8.
    CleanExi HS_C6orf221.
    Genevestigatori Q587J8.

    Family and domain databases

    InterProi IPR004088. KH_dom_type_1.
    [Graphical view ]
    SUPFAMi SSF54791. SSF54791. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The homeoprotein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells."
      Mitsui K., Tokuzawa Y., Itoh H., Segawa K., Murakami M., Takahashi K., Maruyama M., Maeda M., Yamanaka S.
      Cell 113:631-642(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Embryonic stem cell.
    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].
      Tissue: Testis.
    3. "Atypical structure and phylogenomic evolution of the new eutherian oocyte-and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family."
      Pierre A., Gautier M., Callebaut I., Bontoux M., Jeanpierre E., Pontarotti P., Monget P.
      Genomics 90:583-594(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    4. "Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte."
      Parry D.A., Logan C.V., Hayward B.E., Shires M., Landolsi H., Diggle C., Carr I., Rittore C., Touitou I., Philibert L., Fisher R.A., Fallahian M., Huntriss J.D., Picton H.M., Malik S., Taylor G.R., Johnson C.A., Bonthron D.T., Sheridan E.G.
      Am. J. Hum. Genet. 89:451-458(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN HYDM2.

    Entry informationi

    Entry nameiKHD3L_HUMAN
    AccessioniPrimary (citable) accession number: Q587J8
    Secondary accession number(s): B2RNW7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 70 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

    Considered by a number of resources to be the ortholog of rodent Khdc3/Filia. However, sequence similarity is low and synteny is not conserved. According to PubMed:17913455, KHDC3L/ECAT1 has been lost in rodents.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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