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Protein

KH domain-containing, RNA-binding, signal transduction-associated protein 2

Gene

KHDRBS2

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

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 similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8849468. PTK6 Regulates Proteins Involved in RNA Processing.

Names & Taxonomyi

Protein namesi
Recommended name:
KH domain-containing, RNA-binding, signal transduction-associated protein 2
Alternative name(s):
Sam68-like mammalian protein 1
Short name:
SLM-1
Short name:
hSLM-1
Gene namesi
Name:KHDRBS2
Synonyms:SLM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112232.8.
HGNCiHGNC:18114. KHDRBS2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi202559.
OpenTargetsiENSG00000112232.
PharmGKBiPA30093.

Polymorphism and mutation databases

BioMutaiKHDRBS2.
DMDMi74762274.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003089531 – 349KH domain-containing, RNA-binding, signal transduction-associated protein 2Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei230Omega-N-methylarginineBy similarity1
Modified residuei240Omega-N-methylarginineBy similarity1

Post-translational modificationi

Methylated.1 Publication
Tyrosine phosphorylated by FYN, PTK6 and SRC. Tyrosine phosphorylated by SRC during mitosis (By similarity).By similarity

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ5VWX1.
MaxQBiQ5VWX1.
PaxDbiQ5VWX1.
PeptideAtlasiQ5VWX1.
PRIDEiQ5VWX1.

PTM databases

iPTMnetiQ5VWX1.
PhosphoSitePlusiQ5VWX1.

Expressioni

Tissue specificityi

Highly expressed in brain, lung, kidney and small intestine. Weakly expressed in placenta, liver, spleen, thymus, ovary and colon.1 Publication

Gene expression databases

BgeeiENSG00000112232.
CleanExiHS_KHDRBS2.
GenevisibleiQ5VWX1. HS.

Organism-specific databases

HPAiHPA000500.
HPA029392.

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 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi128436. 98 interactors.
IntActiQ5VWX1. 45 interactors.
MINTiMINT-1449914.
STRINGi9606.ENSP00000281156.

Structurei

3D structure databases

ProteinModelPortaliQ5VWX1.
SMRiQ5VWX1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 135KHPROSITE-ProRule annotationAdd BLAST71

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi211 – 262Pro-richAdd BLAST52

Sequence similaritiesi

Belongs to the KHDRBS family.Curated

Keywords - Domaini

SH3-binding

Phylogenomic databases

eggNOGiKOG1588. Eukaryota.
COG5176. LUCA.
GeneTreeiENSGT00550000074434.
HOGENOMiHOG000230771.
HOVERGENiHBG079164.
InParanoidiQ5VWX1.
KOiK17843.
OMAiEAYDNSY.
OrthoDBiEOG091G0EED.
PhylomeDBiQ5VWX1.
TreeFamiTF314878.

Family and domain databases

Gene3Di3.30.1370.10. 1 hit.
InterProiView protein in InterPro
IPR004087. KH_dom.
IPR004088. KH_dom_type_1.
IPR036612. KH_dom_type_1_sf.
IPR032571. Qua1_dom.
IPR032335. Sam68-YY.
PfamiView protein in Pfam
PF00013. KH_1. 1 hit.
PF16274. Qua1. 1 hit.
PF16568. Sam68-YY. 1 hit.
SMARTiView protein in SMART
SM00322. KH. 1 hit.
SUPFAMiSSF54791. SSF54791. 1 hit.
PROSITEiView protein in PROSITE
PS50084. KH_TYPE_1. 1 hit.

Sequencei

Sequence statusi: Complete.

Q5VWX1-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:349
Mass (Da):38,927
Last modified:December 7, 2004 - v1
Checksum:iEF16E301D8A12164
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti65L → P in AAL77219 (PubMed:12549823).Curated1
Sequence conflicti232A → V in AAL77219 (PubMed:12549823).Curated1
Sequence conflicti326R → S in AAH34043 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036885308G → 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.
CCDSiCCDS4963.1.
RefSeqiNP_689901.2. NM_152688.3.
UniGeneiHs.519794.

Genome annotation databases

EnsembliENST00000281156; ENSP00000281156; ENSG00000112232.
GeneIDi202559.
KEGGihsa:202559.
UCSCiuc003peg.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKHDR2_HUMAN
AccessioniPrimary (citable) accession number: Q5VWX1
Secondary accession number(s): A8K7M8, Q8N4I4, Q8TCZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 7, 2004
Last modified: November 22, 2017
This is version 135 of the entry and version 1 of the sequence. See 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

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