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Protein

KHDC3-like protein

Gene

KHDC3L

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

Functioni

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31344-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:33699. KHDC3L.

Pathology & Biotechi

Involvement in diseasei

Hydatidiform mole, recurrent, 2 (HYDM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614293

Organism-specific databases

DisGeNETi154288.
MalaCardsiKHDC3L.
MIMi614293. phenotype.
OpenTargetsiENSG00000203908.
Orphaneti254688. Complete hydatidiform mole.
PharmGKBiPA162380388.

Polymorphism and mutation databases

BioMutaiKHDC3L.
DMDMi74721670.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003119671 – 217KHDC3-like proteinAdd BLAST217

Proteomic databases

PaxDbiQ587J8.
PeptideAtlasiQ587J8.
PRIDEiQ587J8.

PTM databases

iPTMnetiQ587J8.
PhosphoSitePlusiQ587J8.

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

BgeeiENSG00000203908.
CleanExiHS_C6orf221.
GenevisibleiQ587J8. HS.

Organism-specific databases

HPAiHPA043699.

Interactioni

Subunit structurei

Component of the subcortical maternal complex (SCMC) which is essential for progression of zygotes beyond the first embryonic cell division. The complex also contains NLRP5, OOEP and TLE6.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000359392.

Structurei

3D structure databases

ProteinModelPortaliQ587J8.
SMRiQ587J8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 103KH; atypicalAdd BLAST64

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

eggNOGiENOG410J966. Eukaryota.
ENOG410XPG5. LUCA.
GeneTreeiENSGT00560000077310.
HOGENOMiHOG000112316.
HOVERGENiHBG100393.
InParanoidiQ587J8.
OMAiEAGTQQS.
OrthoDBiEOG091G0B9Z.
PhylomeDBiQ587J8.
TreeFamiTF338690.

Family and domain databases

CDDicd12795. FILIA_N_like. 1 hit.
Gene3Di3.30.1370.10. 1 hit.
InterProiIPR004088. KH_dom_type_1.
IPR031952. MOEP19_KH-like.
[Graphical view]
PfamiPF16005. MOEP19. 1 hit.
[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)DescriptionActionsGraphical viewLength
Natural variantiVAR_05405297E → Q.Corresponds to variant rs564533dbSNPEnsembl.1
Natural variantiVAR_054053201A → G.Corresponds to variant rs561930dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ587J8.
SMRiQ587J8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000359392.

PTM databases

iPTMnetiQ587J8.
PhosphoSitePlusiQ587J8.

Polymorphism and mutation databases

BioMutaiKHDC3L.
DMDMi74721670.

Proteomic databases

PaxDbiQ587J8.
PeptideAtlasiQ587J8.
PRIDEiQ587J8.

Protocols and materials databases

DNASUi154288.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370367; ENSP00000359392; ENSG00000203908.
GeneIDi154288.
KEGGihsa:154288.
UCSCiuc003pgt.5. human.

Organism-specific databases

CTDi154288.
DisGeNETi154288.
GeneCardsiKHDC3L.
HGNCiHGNC:33699. KHDC3L.
HPAiHPA043699.
MalaCardsiKHDC3L.
MIMi611687. gene.
614293. phenotype.
neXtProtiNX_Q587J8.
OpenTargetsiENSG00000203908.
Orphaneti254688. Complete hydatidiform mole.
PharmGKBiPA162380388.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J966. Eukaryota.
ENOG410XPG5. LUCA.
GeneTreeiENSGT00560000077310.
HOGENOMiHOG000112316.
HOVERGENiHBG100393.
InParanoidiQ587J8.
OMAiEAGTQQS.
OrthoDBiEOG091G0B9Z.
PhylomeDBiQ587J8.
TreeFamiTF338690.

Enzyme and pathway databases

BioCyciZFISH:G66-31344-MONOMER.

Miscellaneous databases

GenomeRNAii154288.
PROiQ587J8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203908.
CleanExiHS_C6orf221.
GenevisibleiQ587J8. HS.

Family and domain databases

CDDicd12795. FILIA_N_like. 1 hit.
Gene3Di3.30.1370.10. 1 hit.
InterProiIPR004088. KH_dom_type_1.
IPR031952. MOEP19_KH-like.
[Graphical view]
PfamiPF16005. MOEP19. 1 hit.
[Graphical view]
SUPFAMiSSF54791. SSF54791. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 86 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.