UniProtKB - Q5VWX1 (KHDR2_HUMAN)
KH domain-containing, RNA-binding, signal transduction-associated protein 2
KHDRBS2
Functioni
RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity).
Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis.
By similarityGO - Molecular functioni
- mRNA binding Source: GO_Central
- poly(A) binding Source: GO_Central
- poly(U) RNA binding Source: Ensembl
- SH2 domain binding Source: Ensembl
- SH3 domain binding Source: UniProtKB-KW
GO - Biological processi
- mRNA processing Source: UniProtKB-KW
- regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
- regulation of mRNA splicing, via spliceosome Source: GO_Central
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q5VWX1 |
Reactomei | R-HSA-8849468, PTK6 Regulates Proteins Involved in RNA Processing |
SignaLinki | Q5VWX1 |
Names & Taxonomyi
Protein namesi | Recommended name: KH domain-containing, RNA-binding, signal transduction-associated protein 2Alternative name(s): Sam68-like mammalian protein 1 Short name: SLM-1 Short name: hSLM-1 |
Gene namesi | Name:KHDRBS2 Synonyms:SLM1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18114, KHDRBS2 |
MIMi | 610487, gene |
neXtProti | NX_Q5VWX1 |
VEuPathDBi | HostDB:ENSG00000112232 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 202559 |
OpenTargetsi | ENSG00000112232 |
PharmGKBi | PA30093 |
Miscellaneous databases
Pharosi | Q5VWX1, Tbio |
Genetic variation databases
BioMutai | KHDRBS2 |
DMDMi | 74762274 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000308953 | 1 – 349 | KH domain-containing, RNA-binding, signal transduction-associated protein 2Add BLAST | 349 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 230 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 240 | Omega-N-methylarginineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q5VWX1 |
jPOSTi | Q5VWX1 |
MassIVEi | Q5VWX1 |
MaxQBi | Q5VWX1 |
PaxDbi | Q5VWX1 |
PeptideAtlasi | Q5VWX1 |
PRIDEi | Q5VWX1 |
ProteomicsDBi | 65566 |
PTM databases
GlyGeni | Q5VWX1, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q5VWX1 |
PhosphoSitePlusi | Q5VWX1 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000112232, Expressed in cortical plate and 91 other tissues |
Genevisiblei | Q5VWX1, HS |
Organism-specific databases
HPAi | ENSG00000112232, Tissue enhanced (brain, retina, thyroid gland) |
Interactioni
Subunit structurei
Self-associates to form homooligomers (By similarity).
Interacts with KHDRBS1/SAM68; heterooligomer formation of KHDRBS family proteins may modulate RNA substrate specificity (By similarity).
Interacts with RBMX (PubMed:19282290).
Interacts with SAFB, SFRS9 and YTHDC1.
Interacts with FYN and PLCG1 (via SH3 domain).
Interacts (phosphorylated) with FYN, GRB2, PLCG1 and RASA1 (via SH2 domain) (By similarity).
By similarity1 PublicationBinary interactionsi
Q5VWX1
GO - Molecular functioni
- SH2 domain binding Source: Ensembl
- SH3 domain binding Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 128436, 124 interactors |
IntActi | Q5VWX1, 73 interactors |
MINTi | Q5VWX1 |
STRINGi | 9606.ENSP00000281156 |
Miscellaneous databases
RNActi | Q5VWX1, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 65 – 135 | KHPROSITE-ProRule annotationAdd BLAST | 71 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 182 – 284 | DisorderedSequence analysisAdd BLAST | 103 | |
Regioni | 319 – 349 | DisorderedSequence analysisAdd BLAST | 31 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 206 – 220 | Pro residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Keywords - Domaini
SH3-bindingPhylogenomic databases
eggNOGi | KOG1588, Eukaryota |
GeneTreei | ENSGT00940000157134 |
HOGENOMi | CLU_034976_0_1_1 |
InParanoidi | Q5VWX1 |
OMAi | VRQYPKF |
PhylomeDBi | Q5VWX1 |
TreeFami | TF314878 |
Family and domain databases
Gene3Di | 3.30.1370.10, 1 hit |
InterProi | View protein in InterPro IPR045071, BBP-like IPR004087, KH_dom IPR004088, KH_dom_type_1 IPR036612, KH_dom_type_1_sf IPR032571, Qua1_dom IPR032335, Sam68-YY |
PANTHERi | PTHR11208, PTHR11208, 1 hit |
Pfami | View protein in Pfam PF00013, KH_1, 1 hit PF16274, Qua1, 1 hit PF16568, Sam68-YY, 1 hit |
SMARTi | View protein in SMART SM00322, KH, 1 hit |
SUPFAMi | SSF54791, SSF54791, 1 hit |
PROSITEi | View protein in PROSITE PS50084, KH_TYPE_1, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MEEEKYLPEL MAEKDSLDPS FVHASRLLAE EIEKFQGSDG KKEDEEKKYL
60 70 80 90 100
DVISNKNIKL SERVLIPVKQ YPKFNFVGKL LGPRGNSLKR LQEETGAKMS
110 120 130 140 150
ILGKGSMRDK AKEEELRKSG EAKYAHLSDE LHVLIEVFAP PGEAYSRMSH
160 170 180 190 200
ALEEIKKFLV PDYNDEIRQE QLRELSYLNG SEDSGRGRGI RGRGIRIAPT
210 220 230 240 250
APSRGRGGAI PPPPPPGRGV LTPRGSTVTR GALPVPPVAR GVPTPRARGA
260 270 280 290 300
PTVPGYRAPP PPAHEAYEEY GYDDGYGGEY DDQTYETYDN SYATQTQSVP
310 320 330 340
EYYDYGHGVS EDAYDSYAPE EWATTRSSLK APPQRSARGG YREHPYGRY
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PGH5 | A0A6Q8PGH5_HUMAN | KH domain-containing, RNA-binding, ... | KHDRBS2 | 305 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 65 | L → P in AAL77219 (PubMed:12549823).Curated | 1 | |
Sequence conflicti | 232 | A → V in AAL77219 (PubMed:12549823).Curated | 1 | |
Sequence conflicti | 326 | R → S in AAH34043 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036885 | 308 | G → A. Corresponds to variant dbSNP:rs7449840Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY077838 mRNA Translation: AAL77219.1 AK292043 mRNA Translation: BAF84732.1 AL360220 Genomic DNA No translation available. AL355347 Genomic DNA No translation available. AL391644 Genomic DNA No translation available. AL138882 Genomic DNA No translation available. AL049544 Genomic DNA No translation available. Z93021 Genomic DNA No translation available. CH471143 Genomic DNA Translation: EAW88490.1 BC034043 mRNA Translation: AAH34043.1 |
CCDSi | CCDS4963.1 |
RefSeqi | NP_689901.2, NM_152688.3 |
Genome annotation databases
Ensembli | ENST00000281156; ENSP00000281156; ENSG00000112232 |
GeneIDi | 202559 |
KEGGi | hsa:202559 |
MANE-Selecti | ENST00000281156.5; ENSP00000281156.3; NM_152688.4; NP_689901.2 |
UCSCi | uc003peg.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY077838 mRNA Translation: AAL77219.1 AK292043 mRNA Translation: BAF84732.1 AL360220 Genomic DNA No translation available. AL355347 Genomic DNA No translation available. AL391644 Genomic DNA No translation available. AL138882 Genomic DNA No translation available. AL049544 Genomic DNA No translation available. Z93021 Genomic DNA No translation available. CH471143 Genomic DNA Translation: EAW88490.1 BC034043 mRNA Translation: AAH34043.1 |
CCDSi | CCDS4963.1 |
RefSeqi | NP_689901.2, NM_152688.3 |
3D structure databases
SMRi | Q5VWX1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128436, 124 interactors |
IntActi | Q5VWX1, 73 interactors |
MINTi | Q5VWX1 |
STRINGi | 9606.ENSP00000281156 |
PTM databases
GlyGeni | Q5VWX1, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q5VWX1 |
PhosphoSitePlusi | Q5VWX1 |
Genetic variation databases
BioMutai | KHDRBS2 |
DMDMi | 74762274 |
Proteomic databases
EPDi | Q5VWX1 |
jPOSTi | Q5VWX1 |
MassIVEi | Q5VWX1 |
MaxQBi | Q5VWX1 |
PaxDbi | Q5VWX1 |
PeptideAtlasi | Q5VWX1 |
PRIDEi | Q5VWX1 |
ProteomicsDBi | 65566 |
Protocols and materials databases
Antibodypediai | 17553, 145 antibodies from 20 providers |
DNASUi | 202559 |
Genome annotation databases
Ensembli | ENST00000281156; ENSP00000281156; ENSG00000112232 |
GeneIDi | 202559 |
KEGGi | hsa:202559 |
MANE-Selecti | ENST00000281156.5; ENSP00000281156.3; NM_152688.4; NP_689901.2 |
UCSCi | uc003peg.3, human |
Organism-specific databases
CTDi | 202559 |
DisGeNETi | 202559 |
GeneCardsi | KHDRBS2 |
HGNCi | HGNC:18114, KHDRBS2 |
HPAi | ENSG00000112232, Tissue enhanced (brain, retina, thyroid gland) |
MIMi | 610487, gene |
neXtProti | NX_Q5VWX1 |
OpenTargetsi | ENSG00000112232 |
PharmGKBi | PA30093 |
VEuPathDBi | HostDB:ENSG00000112232 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1588, Eukaryota |
GeneTreei | ENSGT00940000157134 |
HOGENOMi | CLU_034976_0_1_1 |
InParanoidi | Q5VWX1 |
OMAi | VRQYPKF |
PhylomeDBi | Q5VWX1 |
TreeFami | TF314878 |
Enzyme and pathway databases
PathwayCommonsi | Q5VWX1 |
Reactomei | R-HSA-8849468, PTK6 Regulates Proteins Involved in RNA Processing |
SignaLinki | Q5VWX1 |
Miscellaneous databases
BioGRID-ORCSi | 202559, 4 hits in 1038 CRISPR screens |
ChiTaRSi | KHDRBS2, human |
GenomeRNAii | 202559 |
Pharosi | Q5VWX1, Tbio |
PROi | PR:Q5VWX1 |
RNActi | Q5VWX1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112232, Expressed in cortical plate and 91 other tissues |
Genevisiblei | Q5VWX1, HS |
Family and domain databases
Gene3Di | 3.30.1370.10, 1 hit |
InterProi | View protein in InterPro IPR045071, BBP-like IPR004087, KH_dom IPR004088, KH_dom_type_1 IPR036612, KH_dom_type_1_sf IPR032571, Qua1_dom IPR032335, Sam68-YY |
PANTHERi | PTHR11208, PTHR11208, 1 hit |
Pfami | View protein in Pfam PF00013, KH_1, 1 hit PF16274, Qua1, 1 hit PF16568, Sam68-YY, 1 hit |
SMARTi | View protein in SMART SM00322, KH, 1 hit |
SUPFAMi | SSF54791, SSF54791, 1 hit |
PROSITEi | View protein in PROSITE PS50084, KH_TYPE_1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KHDR2_HUMAN | |
Accessioni | Q5VWX1Primary (citable) accession number: Q5VWX1 Secondary accession number(s): A8K7M8, Q8N4I4, Q8TCZ4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | December 7, 2004 | |
Last modified: | February 23, 2022 | |
This is version 164 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families