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Khdrbs1 Gene Detail
Summary
  • Symbol
    Khdrbs1
  • Name
    KH domain containing, RNA binding, signal transduction associated 1
  • Synonyms
    p62, Sam68
  • Feature Type
    protein coding gene
  • IDs
    MGI:893579
    NCBI Gene: 20218
  • Gene Overview
    MyGene.info: KHDRBS1
Location & Maps
more
  • Sequence Map
    Chr4:129703164-129742303 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39140 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 63.34 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    KHDRBS1, KH RNA binding domain containing, signal transduction associated 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KHDRBS1, KH RNA binding domain containing, signal transduction associated 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    p62, p68, Sam68
  • Links
    NCBI Gene ID: 10657
    neXtProt AC: NX_Q07666

  • Chr Location
    1p32; chr1:32013694-32060859 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    3 images
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    28
  • Chemically induced (other)
    2
  • Gene trapped
    20
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    4 involving Khdrbs1
  • Incidental Mutations
Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009514 VEGA Gene Model | MGI Sequence Detail 39140 C57BL/6J ±  kb
transcript OTTMUST00000021746 VEGA | MGI Sequence Detail 2600 Not Applicable  
polypeptide OTTMUSP00000034966 VEGA | MGI Sequence Detail 443 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    441 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000009279 KH domain-containing, RNA-binding, signal transduction-associated protein 1
  • InterPro Domains
    IPR032571 KHDRBS, Qua1 domain
    IPR004087 K Homology domain
    IPR004088 K Homology domain, type 1
    IPR032335 Sam68, tyrosine-rich domain
Molecular
Reagents
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  • All nucleic 20
    cDNA 17
    Primer pair 3

    Microarray probesets 9
References
more
  • Summaries
    All 61
    Developmental Gene Expression 6
    Gene Ontology 12
    Phenotypes 25
  • Earliest
    J:26499 Agger R, et al., Purification and cDNA sequence of a murine protein homologous to the human p62 tyrosine phosphoprotein that associates with the Ras GTPase-activating protein p120 GAP. Gene. 1995 Jun 9;158(2):307-8
  • Latest
    J:228193 Klein ME, et al., Coordination between Translation and Degradation Regulates Inducibility of mGluR-LTD. Cell Rep. 2015 Mar 3;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory