Q587J8 (KHD3L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
KHDC3-like protein

Alternative name(s):
ES cell-associated transcript 1 protein

Gene names

Name:	KHDC3L
Synonyms:	C6orf221, ECAT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	217 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mitotic spindle assembly checkpoint Inferred from electronic annotation. Source: Compara protein phosphorylation Inferred from electronic annotation. Source: Compara spindle assembly involved in mitosis Inferred from electronic annotation. Source: Compara
Cellular_component	apical cortex Inferred from electronic annotation. Source: Compara protein complex Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 217	217	KHDC3-like protein		PRO_0000311967
Regions
	Domain	40 – 103	64	KH; atypical
Natural variations
	Natural variant	97	1	E → Q. Corresponds to variant rs564533 [ dbSNP | Ensembl ].		VAR_054052
	Natural variant	201	1	A → G. Corresponds to variant rs561930 [ dbSNP | Ensembl ].		VAR_054053

Sequences

	Sequence		Length	Mass (Da)
	Q587J8 [UniParc]. Last modified May 10, 2005. Version 1. Checksum: C36BC89949DB8606	FASTA	217	24,306
	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

References

	« Hide 'large scale' referencesShow '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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB211062 mRNA. Translation: BAD95489.1. BC132844 mRNA. Translation: AAI32845.1. BC137160 mRNA. Translation: AAI37161.1.
IPI	IPI00077398.
RefSeq	NP_001017361.1. NM_001017361.2.
UniGene	Hs.128326.
3D structure databases
ProteinModelPortal	Q587J8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000359392.
Polymorphism databases
DMDM	74721670.
Proteomic databases
PaxDb	Q587J8.
PRIDE	Q587J8.
Protocols and materials databases
DNASU	154288.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370367; ENSP00000359392; ENSG00000203908.
GeneID	154288.
KEGG	hsa:154288.
UCSC	uc003pgt.4. human.
Organism-specific databases
CTD	154288.
GeneCards	GC06P074073.
HGNC	HGNC:33699. KHDC3L.
HPA	HPA043699.
MIM	611687. gene. 614293. phenotype.
neXtProt	NX_Q587J8.
Orphanet	254688. Hydatidiform complete mole.
PharmGKB	PA162380388.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG76063.
HOGENOM	HOG000112316.
HOVERGEN	HBG100393.
InParanoid	Q587J8.
OMA	EDTIKMI.
OrthoDB	EOG4JDH82.
Gene expression databases
Bgee	Q587J8.
CleanEx	HS_C6orf221.
Genevestigator	Q587J8.
Family and domain databases
PROSITE	PS50084. KH_TYPE_1. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	154288.
NextBio	87263.
SOURCE	Search...

Entry information

Entry name

KHD3L_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 60 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.