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Gene id 10657
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol KHDRBS1   Gene   UCSC   Ensembl
Aliases Sam68, p62, p68
Gene name KH RNA binding domain containing, signal transduction associated 1
Alternate names KH domain-containing, RNA-binding, signal transduction-associated protein 1, GAP-associated tyrosine phosphoprotein p62 (Sam68), KH domain containing, RNA binding, signal transduction associated 1, p21 Ras GTPase-activating protein-associated p62, src-ass,
Gene location 1p35.2 (54657927: 54740714)     Exons: 21     NC_000004.12
Gene summary(Entrez) 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
OMIM 602489

Protein Summary
Protein general information Q07666  

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)

Length: 443  Mass: 48,227

Sequence MQRRDDPAARMSRSSGRSGSMDPSGAHPSVRQTPSRQPPLPHRSRGGGGGSRGGARASPATQPPPLLPPSATGPD
ATVGGPAPTPLLPPSATASVKMEPENKYLPELMAEKDSLDPSFTHAMQLLTAEIEKIQKGDSKKDDEENYLDLFS
HKNMKLKERVLIPVKQYPKFNFVGKILGPQGNTIKRLQEETGAKISVLGKGSMRDKAKEEELRKGGDPKYAHLNM
DLHVFIEVFGPPCEAYALMAHAMEEVKKFLVPDMMDDICQEQFLELSYLNGVPEPSRGRGVPVRGRGAAPPPPPV
PRGRGVGPPRGALVRGTPVRGAITRGATVTRGVPPPPTVRGAPAPRARTAGIQRIPLPPPPAPETYEEYGYDDTY
AEQSYEGYEGYYSQSQGDSEYYDYGHGEVQDSYEAYGQDDWNGTRPSLKAPPARPVKGAYREHPYGRY
Structural information
Protein Domains
 KH. (171-197)
Interpro:  IPR004087  IPR004088  IPR036612  IPR032571  IPR032335  
Prosite:   PS50084

PDB:  		 2XA6 3QHE
PDBsum:   2XA6 3QHE

DIP:  
29007
MINT:  
STRING:   ENSP00000313829
Other Databases GeneCards:  KHDRBS1  Malacards:  KHDRBS1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000086 G2/M transition of mitoti
c cell cycle
 ISS biological process
GO:0003677 DNA binding
 TAS molecular function
GO:0003723 RNA binding
 IDA molecular function
GO:0005070 SH3/SH2 adaptor activity
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006397 mRNA processing
 TAS biological process
GO:0007050 cell cycle arrest
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007166 cell surface receptor sig
naling pathway
 IDA biological process
GO:0008143 poly(A) binding
 IDA molecular function
GO:0008266 poly(U) RNA binding
 IDA molecular function
GO:0008283 cell proliferation
 TAS biological process
GO:0009967 positive regulation of si
gnal transduction
 IEA biological process
GO:0016020 membrane
 IDA cellular component
GO:0016020 membrane
 IDA cellular component
GO:0017124 SH3 domain binding
 IEA molecular function
GO:0032403 protein complex binding
 IEA molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0044822 poly(A) RNA binding
 IDA molecular function
GO:0044822 poly(A) RNA binding
 IDA molecular function
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 ISS biological process
GO:0045948 positive regulation of tr
anslational initiation
 IDA biological process
GO:0046831 regulation of RNA export
from nucleus
 ISS biological process
GO:0046833 positive regulation of RN
A export from nucleus
 IDA biological process
GO:0070618 Grb2-Sos complex
 IEA cellular component
GO:0031647 regulation of protein sta
bility
 IDA biological process
GO:0000086 G2/M transition of mitoti
c cell cycle
 ISS biological process
GO:0003676 nucleic acid binding
 IEA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0003723 RNA binding
 IEA molecular function
GO:0003723 RNA binding
 IEA molecular function
GO:0003723 RNA binding
 IEA molecular function
GO:0003723 RNA binding
 IDA molecular function
GO:0005070 SH3/SH2 adaptor activity
 IEA molecular function
GO:0005070 SH3/SH2 adaptor activity
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006397 mRNA processing
 TAS biological process
GO:0007049 cell cycle
 IEA biological process
GO:0007050 cell cycle arrest
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007166 cell surface receptor sig
naling pathway
 IEA biological process
GO:0007166 cell surface receptor sig
naling pathway
 IDA biological process
GO:0008143 poly(A) binding
 IDA molecular function
GO:0008266 poly(U) RNA binding
 IDA molecular function
GO:0008283 cell proliferation
 TAS biological process
GO:0009967 positive regulation of si
gnal transduction
 IEA biological process
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IDA cellular component
GO:0016020 membrane
 IDA cellular component
GO:0017124 SH3 domain binding
 IEA molecular function
GO:0017124 SH3 domain binding
 IEA molecular function
GO:0032403 protein complex binding
 IEA molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0044822 poly(A) RNA binding
 IDA molecular function
GO:0044822 poly(A) RNA binding
 IDA molecular function
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 IEA biological process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 ISS biological process
GO:0045948 positive regulation of tr
anslational initiation
 IDA biological process
GO:0046831 regulation of RNA export
from nucleus
 IEA biological process
GO:0046831 regulation of RNA export
from nucleus
 ISS biological process
GO:0046833 positive regulation of RN
A export from nucleus
 IDA biological process
GO:0070618 Grb2-Sos complex
 IEA cellular component
GO:0031647 regulation of protein sta
bility
 IDA biological process
GO:0000086 G2/M transition of mitoti
c cell cycle
 ISS biological process
GO:0003677 DNA binding
 TAS molecular function
GO:0003723 RNA binding
 IDA molecular function
GO:0005070 SH3/SH2 adaptor activity
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006397 mRNA processing
 TAS biological process
GO:0007050 cell cycle arrest
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007166 cell surface receptor sig
naling pathway
 IDA biological process
GO:0008143 poly(A) binding
 IDA molecular function
GO:0008266 poly(U) RNA binding
 IDA molecular function
GO:0008283 cell proliferation
 TAS biological process
GO:0016020 membrane
 IDA cellular component
GO:0016020 membrane
 IDA cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0044822 poly(A) RNA binding
 IDA molecular function
GO:0044822 poly(A) RNA binding
 IDA molecular function
GO:0045892 negative regulation of tr
anscription, DNA-template
d
 ISS biological process
GO:0045948 positive regulation of tr
anslational initiation
 IDA biological process
GO:0046831 regulation of RNA export
from nucleus
 ISS biological process
GO:0046833 positive regulation of RN
A export from nucleus
 IDA biological process
GO:0031647 regulation of protein sta
bility
 IDA biological process

Diseases

Expand All | Collapse All
Associated diseases References
Sertoli cell only syndrome (SCOS) MIK: 24794312
Spermatogenesis defects MIK: 24794312
Associated with spermiogenesis MIK: 21355037
Necessary for mouse spermatogenesis MIK: 19380878
Sertoli cell-only syndrome MIK: 24794312
Spermatogenic defects MIK: 24794312
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24794312 Spermatoge
nic defect
s
50 (20 normal s
permatogenesis,
20 with matura
tion arrest at
the spermatocyt
e stage , 10 w
ith Sertoli cel
l-only syndrome
)
 Male infertility
Show abstract
24794312 Sertoli ce
ll-only sy
ndrome
50 (20 azoosper
mic men with no
rmal spermatoge
nesis, 20 matur
ation arrest at
the spermatocy
te stage, 10 Se
rtoli cell-only
syndrome)
 Male infertility
Show abstract
21355037 Associated
with sper
miogenesis

Male infertility
Show abstract
19380878 Necessary
for mouse
spermatoge
nesis

Male infertility
Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract