Gene Gene information from NCBI Gene database.
Entrez ID 10657
Gene name KH RNA binding domain containing, signal transduction associated 1
Gene symbol KHDRBS1
Synonyms (NCBI Gene)
Sam68p62p68
Chromosome 1
Chromosome location 1p35.2
Summary This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative sp
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT049690 hsa-miR-92a-3p CLASH 23622248
MIRT047357 hsa-miR-34a-5p CLASH 23622248
MIRT046222 hsa-miR-27b-3p CLASH 23622248
MIRT040829 hsa-miR-18a-3p CLASH 23622248
MIRT040001 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 9013542
GO:0000086 Process G2/M transition of mitotic cell cycle ISS
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 24514149
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602489 18116 ENSG00000121774
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07666
Protein name KH domain-containing, RNA-binding, signal transduction-associated protein 1 (GAP-associated tyrosine phosphoprotein p62) (Src-associated in mitosis 68 kDa protein) (Sam68) (p21 Ras GTPase-activating protein-associated p62) (p68)
Protein function Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-contai
PDB 2XA6 , 3QHE , 7Z89 , 7Z8A , 7Z9A , 7Z9B , 7ZAB , 7ZAC , 7ZAF , 7ZAM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16274 Qua1 102 153 Qua1 domain Domain
PF00013 KH_1 157 227 KH domain Domain
PF16568 Sam68-YY 366 415 Tyrosine-rich domain of Sam68 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in all tissue examined. Isoform 1 is expressed at lower levels in brain, skeletal muscle, and liver whereas isoform 3 is intensified in skeletal muscle and in liver. {ECO:0000269|PubMed:9013542}.
Sequence
MQRRDDPAARMSRSSGRSGSMDPSGAHPSVRQTPSRQPPLPHRSRGGGGGSRGGARASPA
TQPPPLLPPSATGPDATVGGPAPTPLLPPSATASVKMEPENKYLPELMAEKDSLDPSFTH
AMQLLTAEIEKIQKGDSKKDDEENYLDLFSHKN
MKLKERVLIPVKQYPKFNFVGKILGPQ
GNTIKRLQEETGAKISVLGKGSMRDKAKEEELRKGGDPKYAHLNMDL
HVFIEVFGPPCEA
YALMAHAMEEVKKFLVPDMMDDICQEQFLELSYLNGVPEPSRGRGVPVRGRGAAPPPPPV
PRGRGVGPPRGALVRGTPVRGAITRGATVTRGVPPPPTVRGAPAPRARTAGIQRIPLPPP
PAPETYEEYGYDDTYAEQSYEGYEGYYSQSQGDSEYYDYGHGEVQDSYEAYGQDDWNGTR
PSLKAPPARPVKGAYREHPYGRY
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    PTK6 Regulates Proteins Involved in RNA Processing
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Premature ovarian failure Likely pathogenic rs750291697 RCV001270181
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OVARIAN FAILURE, PREMATURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 29974378, 31122822
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30114705
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22963397, 29897944, 31665193, 31810936
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31366900
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 16405664
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31090940
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 19557423
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28055007, 29576851
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27737765, 28223223, 30235892, 31243684
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22084127, 22972638, 23303844, 23417734, 23812289, 23884045, 24486447, 25114083, 25700176, 26302676, 26373655, 27016404, 27573878, 28076378, 28490746
View all (4 more)
★☆☆☆☆
Found in Text Mining only