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Kxd1 Gene Detail
Summary
  • Symbol
    Kxd1
  • Name
    KxDL motif containing 1
  • Synonyms
    0610030B01Rik, 2810422J05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922870
    NCBI Gene: 75620
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:70966046-70975830 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.15 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    25 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922870
 protein coding gene Chr8:70960922-70980606 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033710
 protein coding gene Chr8:70776753-70800211 (-)
A/J MGP_AJ_G0033693
 protein coding gene Chr8:67905914-67926247 (-)
AKR/J MGP_AKRJ_G0033618
 protein coding gene Chr8:69837161-69857851 (-)
BALB/cJ MGP_BALBcJ_G0033689
 protein coding gene Chr8:68122960-68160385 (-)
C3H/HeJ MGP_C3HHeJ_G0033399
 protein coding gene Chr8:70479921-70504952 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034206
 protein coding gene Chr8:73456188-73477856 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031150
 protein coding gene Chr8:62720556-62741355 (-)
CAST/EiJ MGP_CASTEiJ_G0032724
 protein coding gene Chr8:69966638-69987644 (-)
CBA/J MGP_CBAJ_G0033377
 protein coding gene Chr8:76086999-76115357 (-)
DBA/2J MGP_DBA2J_G0033531
 protein coding gene Chr8:67623234-67642613 (-)
FVB/NJ MGP_FVBNJ_G0033472
 protein coding gene Chr8:66738514-66761699 (-)
LP/J MGP_LPJ_G0033618
 protein coding gene Chr8:70804924-70825803 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033515
 protein coding gene Chr8:78763999-78783423 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034224
 protein coding gene Chr8:70022195-70042459 (-)
PWK/PhJ MGP_PWKPhJ_G0032432
 protein coding gene Chr8:66921223-66942316 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032268
 protein coding gene Chr8:68986490-69009331 (-)
WSB/EiJ MGP_WSBEiJ_G0032839
 protein coding gene Chr8:70383259-70404728 (-)



Homology
more
  • Human Ortholog
    KXD1, KxDL motif containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KXD1, KxDL motif containing 1
  • Synonyms
    BORCS4, C10orf50, C19orf50, KXDL, MST096, MSTP096
  • Links
    NCBI Gene ID: 79036
    neXtProt AC: NX_Q9BQD3
    UniProt: Q9BQD3

  • Chr Location
    19p13.11; chr19:18557762-18569387 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kxd1 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    10 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
    114
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    109
  • Targeted
    3
  • Genomic Mutations
    1 involving Kxd1
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
    26 strains or lines available
Mice homozygous for a knock-out allele exhibit reduced melanosomes in the choroid and retinal pigment epithelium and decreased platelet dense granule number.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    706
  • cDNA Data
    63
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 75620 NCBI Gene Model | MGI Sequence Detail 9785 C57BL/6J ±  kb
transcript NM_029366 RefSeq | MGI Sequence Detail 1236 C57BL/6  
polypeptide Q80XH1 UniProt | EBI | MGI Sequence Detail 177 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 65
    cDNA 65

    Microarray probesets 3
Other
Accession IDs
less
MGI:1915631, MGI:2142851
References
more
  • Summaries
    All 36
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 7
    Phenotypes 10
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:298681 Zhang C, et al., BLOS1 mediates kinesin switch during endosomal recycling of LDL receptor. Elife. 2020 Nov 12;9:e58069
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory