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Entry version 114 (29 Sep 2021)
Sequence version 1 (10 May 2005)
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Protein

KH domain-containing protein 3

Gene

KHDC3L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As part of the OOEP-KHDC3 scaffold, recruits BLM and TRIM25 to DNA replication forks, thereby promoting the ubiquitination of BLM by TRIM25, enhancing BLM retainment at replication forks and therefore promoting stalled replication fork restart (By similarity).

Regulates homologous recombination-mediated DNA repair via recruitment of RAD51 to sites of DNA double-strand breaks, and sustainment of PARP1 activity, which in turn modulates downstream ATM or ATR activation (PubMed:31609975).

Activation of ATM or ATR in response to DNA double-strand breaks may be cell-type specific (By similarity).

Its role in DNA double-strand break repair is independent of its role in restarting stalled replication forks (By similarity).

As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (By similarity).

Required for maintenance of euploidy during cleavage-stage embryogenesis (By similarity).

Required for the formation of F-actin cytoplasmic lattices in oocytes which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity).

Ensures proper spindle assembly by regulating the localization of AURKA via RHOA signaling and of PLK1 via a RHOA-independent process (By similarity).

Required for the localization of MAD2L1 to kinetochores to enable spindle assembly checkpoint function (By similarity).

Promotes neural stem cell neurogenesis and neuronal differentiation in the hippocampus (By similarity).

May regulate normal development of learning, memory and anxiety (By similarity).

Capable of binding RNA (By similarity).

By similarity1 Publication

Caution

The role of human KHDC3L in the restart of replication forks is unclear as it has been shown to not be involved in the process (PubMed:31609975). However it has been shown that the KHDC3L ortholog in macaque is required for the process (By similarity).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q587J8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
KH domain-containing protein 3
Alternative name(s):
ES cell-associated transcript 1 protein1 Publication
KHDC3-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KHDC3L
Synonyms:C6orf2211 Publication, ECAT11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:33699, KHDC3L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611687, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q587J8

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000203908

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Chromosome, Cytoplasm, Cytoskeleton, Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hydatidiform mole, recurrent, 2 (HYDM2)2 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0850595R → K in HYDM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144291287Ensembl.1
Natural variantiVAR_05405297E → Q in HYDM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs564533Ensembl.1
Natural variantiVAR_054053201A → G in HYDM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs561930Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi145T → A: Decreases recruitment of RAD51 to DNA double-strand breaks, PARP1 activity and ATM-CHK2 signaling resulting in a decrease in DNA double-strand break repair. 1 Publication1
Mutagenesisi150 – 172Missing : Abolishes DNA double-strand break repair. Reduces the localization of the homologous recombination DNA repair pathway protein RAD51 to sites of DNA double-strand breaks. May exhibit a dominant negative effect on PARP1 activation, homologous recombination repair and ATM-CHK2 signaling. No effect on restart of stalled replication forks, nascent DNA stability, localization to DNA double-strand break repair sites or interaction with PARP1. 1 PublicationAdd BLAST23
Mutagenesisi150 – 159Missing : Abolishes DNA double-strand break repair. Reduces the localization of the homologous recombination DNA repair pathway protein RAD51 to sites of DNA double-strand breaks. May exhibit a dominant negative effect on PARP1 activation, homologous recombination repair and ATM-CHK2 signaling. No effect on restart of stalled replication forks, nascent DNA stability, localization to DNA double-strand break repair sites or interaction with PARP1. 1 Publication10
Mutagenesisi156T → A: Decreases recruitment of RAD51 to DNA double-strand breaks, PARP1 activity and ATM-CHK2 signaling resulting in a decrease in DNA double-strand break repair. 1 Publication1
Mutagenesisi156T → D: No effect on recruitment of RAD51 to DNA double-strand breaks, PARP1 activity, ATM-CHK2 signaling or DNA double-strand break repair. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
154288

MalaCards human disease database

More...
MalaCardsi
KHDC3L
MIMi614293, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000203908

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
254688, Complete hydatidiform mole
254693, Partial hydatidiform mole

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162380388

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q587J8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KHDC3L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74721670

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003119671 – 217KH domain-containing protein 3Add BLAST217

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei145Phosphothreonine; by ATM1 Publication1
Modified residuei156Phosphothreonine; by ATM1 Publication1
Modified residuei182PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q587J8

PeptideAtlas

More...
PeptideAtlasi
Q587J8

PRoteomics IDEntifications database

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PRIDEi
Q587J8

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
62602

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q587J8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q587J8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in oocytes of the fetal ovary (PubMed:25542835). Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835). Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Induced by hydroxyurea and etoposide.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000203908, Expressed in oocyte and 44 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q587J8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000203908, Group enriched (brain, epididymis, lung, lymphoid tissue, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3L, OOEP, and TLE6 isoform 1 (PubMed:25542835). Within the complex, interacts with NLRP5, KHDC3L and TLE6 isoform 1 (PubMed:26537248, PubMed:25542835). The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments (PubMed:25542835).

Forms a scaffold complex with OOEP/FLOPED, and interacts with BLM and TRIM25 at DNA replication forks (By similarity).

Interacts with PARP1; the interaction is increased following the formation of DNA double-strand breaks (PubMed:31609975).

Interacts with NUMA1 (By similarity).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q587J8

Protein interaction database and analysis system

More...
IntActi
Q587J8, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359392

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q587J8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q587J8

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini40 – 103KH; atypicalAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 40Involved in RNA bindingBy similarityAdd BLAST40
Regioni129 – 217DisorderedSequence analysisAdd BLAST89

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi129 – 143Polar residuesSequence analysisAdd BLAST15
Compositional biasi160 – 199Polar residuesSequence analysisAdd BLAST40
Compositional biasi202 – 217Basic and acidic residuesSequence analysisAdd BLAST16

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the KHDC1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QQIF, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000162601

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_115458_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q587J8

Identification of Orthologs from Complete Genome Data

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OMAi
LSKRPYW

Database of Orthologous Groups

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OrthoDBi
913590at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q587J8

TreeFam database of animal gene trees

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TreeFami
TF338690

Family and domain databases

Conserved Domains Database

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CDDi
cd12795, FILIA_N_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1370.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036612, KH_dom_type_1_sf
IPR031952, MOEP19_KH-like

Pfam protein domain database

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Pfami
View protein in Pfam
PF16005, MOEP19, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54791, SSF54791, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC36BC89949DB8606
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0850595R → K in HYDM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144291287Ensembl.1
Natural variantiVAR_05405297E → Q in HYDM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs564533Ensembl.1
Natural variantiVAR_054053201A → G in HYDM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs561930Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB211062 mRNA Translation: BAD95489.1
BC132844 mRNA Translation: AAI32845.1
BC137160 mRNA Translation: AAI37161.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34484.1

NCBI Reference Sequences

More...
RefSeqi
NP_001017361.1, NM_001017361.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000370367; ENSP00000359392; ENSG00000203908

Database of genes from NCBI RefSeq genomes

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GeneIDi
154288

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:154288

UCSC genome browser

More...
UCSCi
uc003pgt.5, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiQ587J8
ModBaseiSearch...

Protein-protein interaction databases

CORUMiQ587J8
IntActiQ587J8, 1 interactor
STRINGi9606.ENSP00000359392

PTM databases

iPTMnetiQ587J8
PhosphoSitePlusiQ587J8

Genetic variation databases

BioMutaiKHDC3L
DMDMi74721670

Proteomic databases

PaxDbiQ587J8
PeptideAtlasiQ587J8
PRIDEiQ587J8
ProteomicsDBi62602

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
49514, 84 antibodies

The DNASU plasmid repository

More...
DNASUi
154288

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
154288
DisGeNETi154288

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KHDC3L
HGNCiHGNC:33699, KHDC3L
HPAiENSG00000203908, Group enriched (brain, epididymis, lung, lymphoid tissue, testis)
MalaCardsiKHDC3L
MIMi611687, gene
614293, phenotype
neXtProtiNX_Q587J8
OpenTargetsiENSG00000203908
Orphaneti254688, Complete hydatidiform mole
254693, Partial hydatidiform mole
PharmGKBiPA162380388
VEuPathDBiHostDB:ENSG00000203908

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QQIF, Eukaryota
GeneTreeiENSGT00940000162601
HOGENOMiCLU_115458_0_0_1
InParanoidiQ587J8
OMAiLSKRPYW
OrthoDBi913590at2759
PhylomeDBiQ587J8
TreeFamiTF338690

Enzyme and pathway databases

PathwayCommonsiQ587J8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
154288, 3 hits in 999 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
154288
PharosiQ587J8, Tbio

Protein Ontology

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PROi
PR:Q587J8
RNActiQ587J8, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000203908, Expressed in oocyte and 44 other tissues
GenevisibleiQ587J8, HS

Family and domain databases

CDDicd12795, FILIA_N_like, 1 hit
Gene3Di3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR036612, KH_dom_type_1_sf
IPR031952, MOEP19_KH-like
PfamiView protein in Pfam
PF16005, MOEP19, 1 hit
SUPFAMiSSF54791, SSF54791, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKHDC3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q587J8
Secondary accession number(s): B2RNW7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: May 10, 2005
Last modified: September 29, 2021
This is version 114 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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