KHDC3L - KH domain containing 3 like, subcortical maternal complex member Gene

Also Known as ECAT1; HYDM2; C6orf221

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 154288

About KHDC3L

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:73,362,658-73,364,171 (from NCBI)

This gene has 1 transcript (splice variant), 88 orthologues, 1 paralogue and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

KHDC3L Products (1)

mRNA	Protein	Name
NM_001017361.3	NP_001017361.1	KH domain-containing protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25542835	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in positive regulation of double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	31609975	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	31609975	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25542835	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25542835	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	26537248	GOA
part of subcortical maternal complex	IDA IDA: Inferred from direct assay	25542835	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
KH domain-containing protein 3	ES cell-associated transcript 1 protein

KHDC3L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	KHDC3L	Q587J8	OOEP	Homo sapiens	A6NGQ2	Anti Tag CoIP	25542835
Intra	KHDC3L	Q587J8	OOEP	Homo sapiens	A6NGQ2	Confocal	25542835
Intra	KHDC3L	Q587J8	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	KHDC3L	Q587J8	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	KHDC3L	Q587J8	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hydatidiform Mole, Recurrent, 2	HYDM2 Hydatidiform Mole, Complete Hydatidiform Mole Complete Mole, Hydatidiform, Recurrent, Type 2
Partial Hydatidiform Mole	Incomplete Hydatidiform Mole Incomplete Molar Pregnancy Partial Molar Pregnancy Hydatidiform Mole, Partial
Hydatidiform Mole, Recurrent, 1	Hydatidiform Mole Gestational Trophoblastic Disease Complete Hydatidiform Mole Hydm HYDM1 Chm Molar Pregnancy Hydatidiform Mole, Complete Hydatid Mole Complete Molar Pregnancy Mole, Hydatidiform, Recurrent, Type 1 Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 2 Classical Hydatidiform Mole
Triploidy	Triploidy Syndrome Triploid Syndrome Chromosome Triploidy Syndrome Triploid
Pseudohypoparathyroidism	Familial Pseudohypoparathyroidism Parathyroid Hormone Resistant Hypoparathyroidism Php - [Pseudohypoparathyroidism] Constitutional Chronic Hypocalcaemia
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Epithelioid Trophoblastic Tumor	Trophoblastic Tumor, Epithelioid
Placental Site Trophoblastic Tumor	Trophoblastic Tumor Placental Site Trophoblastic Tumor, Placental Site Placental Site Trophoblastic Tumour Placental-Site Gestational Trophoblastic Neoplasm Placenta Neoplasm Psst Deciduoma Placental Cancer Primary Malignant Neoplasm Of Placenta
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Germ Cell Cancer	Malignant Germ Cell Tumor Neoplasms, Germ Cell And Embryonal Germ Cell Neoplasm Germ Cell Tumour Malignant Tumor Of The Germ Cell Neoplasms Germ Cell Malignant Germ Cell Neoplasm
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07235	KHDC3L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KHDC3L	RGD	RGD:1311617
Canis familiaris	KHDC3L	VGNC	VGNC:57241
Mus musculus	KHDC3L	MGD	MGI:1914241
Bos taurus	KHDC3L	VGNC	VGNC:54441
Macaca mulatta	KHDC3L	VGNC	VGNC:73951
Others	KHDC3L	NCBI