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Q587J8 (KHD3L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
KHDC3-like protein
Alternative name(s):
ES cell-associated transcript 1 protein
Gene names
Name:KHDC3L
Synonyms:C6orf221, ECAT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length217 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

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. Ref.4

Domain

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the KHDC1 family.

Contains 1 KH domain.

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 Ref.3, KHDC3L/ECAT1 has been lost in rodents.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 217217KHDC3-like protein
PRO_0000311967

Regions

Domain40 – 10364KH; atypical

Natural variations

Natural variant971E → Q.
Corresponds to variant rs564533 [ dbSNP | Ensembl ].
VAR_054052
Natural variant2011A → G.
Corresponds to variant rs561930 [ dbSNP | Ensembl ].
VAR_054053

Sequences

Sequence LengthMass (Da)Tools
Q587J8 [UniParc].

Last modified May 10, 2005. Version 1.
Checksum: C36BC89949DB8606

FASTA21724,306
        10         20         30         40         50         60 
MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW LVEKIFGRGG 

        70         80         90        100        110        120 
ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI KMIMNLADYH RQLQAKGSGK 

       130        140        150        160        170        180 
ALAQDVATQK AETQRSSIEV REAGTQRSVE VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ 

       190        200        210 
QSLQAANKSG TQRSPEAASK AVTQRFREDA RDPVTRL 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB211062 mRNA. Translation: BAD95489.1.
BC132844 mRNA. Translation: AAI32845.1.
BC137160 mRNA. Translation: AAI37161.1.
CCDSCCDS34484.1.
RefSeqNP_001017361.1. NM_001017361.2.
UniGeneHs.128326.

3D structure databases

ProteinModelPortalQ587J8.
SMRQ587J8. Positions 5-111.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000359392.

Polymorphism databases

DMDM74721670.

Proteomic databases

PaxDbQ587J8.
PRIDEQ587J8.

Protocols and materials databases

DNASU154288.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370367; ENSP00000359392; ENSG00000203908.
GeneID154288.
KEGGhsa:154288.
UCSCuc003pgt.4. human.

Organism-specific databases

CTD154288.
GeneCardsGC06P074073.
HGNCHGNC:33699. KHDC3L.
HPAHPA043699.
MIM611687. gene.
614293. phenotype.
neXtProtNX_Q587J8.
Orphanet254688. Complete hydatidiform mole.
PharmGKBPA162380388.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG76063.
HOGENOMHOG000112316.
HOVERGENHBG100393.
InParanoidQ587J8.
OMAVWLVEKI.
OrthoDBEOG7F512X.
PhylomeDBQ587J8.
TreeFamTF338690.

Gene expression databases

BgeeQ587J8.
CleanExHS_C6orf221.
GenevestigatorQ587J8.

Family and domain databases

InterProIPR004088. KH_dom_type_1.
[Graphical view]
SUPFAMSSF54791. SSF54791. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi154288.
NextBio87263.
PROQ587J8.
SOURCESearch...

Entry information

Entry nameKHD3L_HUMAN
AccessionPrimary (citable) accession number: Q587J8
Secondary accession number(s): B2RNW7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: May 10, 2005
Last modified: July 9, 2014
This is version 68 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM