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Q587J8

- KHD3L_HUMAN

UniProt

Q587J8 - KHD3L_HUMAN

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Protein

KHDC3-like protein

Gene

KHDC3L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. RNA binding Source: InterPro
Complete GO annotation...

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.
GeneTreeiENSGT00560000077310.
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

        10         20         30         40         50
MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW
60 70 80 90 100
LVEKIFGRGG ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI
110 120 130 140 150
KMIMNLADYH RQLQAKGSGK ALAQDVATQK AETQRSSIEV REAGTQRSVE
160 170 180 190 200
VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ QSLQAANKSG TQRSPEAASK
210
AVTQRFREDA RDPVTRL
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.
GeneTreei ENSGT00560000077310.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 71 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