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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:129703164-129742303 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 63.34 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    441 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_893579
protein coding gene Chr4:129702380-129743878 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028838
protein coding gene Chr4:131649060-131693283 (-)
A/J MGP_AJ_G0028797
protein coding gene Chr4:126384388-126423435 (-)
AKR/J MGP_AKRJ_G0028750
protein coding gene Chr4:129909216-129951109 (-)
BALB/cJ MGP_BALBcJ_G0028820
protein coding gene Chr4:126990337-127029667 (-)
C3H/HeJ MGP_C3HHeJ_G0028534
protein coding gene Chr4:129969786-130008110 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029262
protein coding gene Chr4:136597879-136643763 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026534
protein coding gene Chr4:119514855-119552824 (-)
CAST/EiJ MGP_CASTEiJ_G0027966
protein coding gene Chr4:128154566-128193057 (-)
CBA/J MGP_CBAJ_G0028500
protein coding gene Chr4:140021640-140063146 (-)
DBA/2J MGP_DBA2J_G0028649
protein coding gene Chr4:126819283-126861613 (-)
FVB/NJ MGP_FVBNJ_G0028616
protein coding gene Chr4:125575621-125619255 (-)
LP/J MGP_LPJ_G0028750
protein coding gene Chr4:131958507-132001399 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028642
protein coding gene Chr4:144793572-144835414 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029300
protein coding gene Chr4:130278644-130322538 (-)
PWK/PhJ MGP_PWKPhJ_G0027688
protein coding gene Chr4:123420274-123459203 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027514
protein coding gene Chr4:126147960-126189109 (-)
WSB/EiJ MGP_WSBEiJ_G0028047
protein coding gene Chr4:130407674-130450500 (-)



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: HomoloGene, HGNC
  • Synonyms
    p62, p68, Sam68
  • Links
    NCBI Gene ID: 10657
    neXtProt AC: NX_Q07666
    UniProt: Q07666

  • Chr Location
    1p35.2; chr1:32013694-32060859 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    3 images
    31 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028790 Ensembl Gene Model | MGI Sequence Detail 39140 C57BL/6J ±  kb
    transcript ENSMUST00000129342 Ensembl | MGI Sequence Detail 2600 Not Applicable  
    polypeptide ENSMUSP00000115402 Ensembl | MGI Sequence Detail 443 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 19
      Primer pair 3

      Microarray probesets 9
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 7
      Gene Ontology 15
      Phenotypes 31
    • Earliest
      J:17885 Fumagalli S, et al., A target for Src in mitosis. Nature. 1994 Apr 28;368(6474):871-4
    • Latest
      J:285124 Pagliarini V, et al., Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization. Nucleic Acids Res. 2020 Jan 24;48(2):633-645

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    Funding Information
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    last database update
    05/19/2020
    MGI 6.15
    The Jackson Laboratory