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Kirrel1 Gene Detail
Summary
  • Symbol
    Kirrel1
  • Name
    kirre like nephrin family adhesion molecule 1
  • Synonyms
    6720469N11Rik, Kirrel, Kirrel1, Neph1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891396
    NCBI Gene: 170643
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:86985900-87082054 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 38.18 cM, cytoband F1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2383 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891396
 protein coding gene Chr3:86985900-87082084 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027359
 protein coding gene Chr3:87154360-87250249 (-)
A/J MGP_AJ_G0027323
 protein coding gene Chr3:84189719-84292082 (-)
AKR/J MGP_AKRJ_G0027289
 protein coding gene Chr3:86243356-86339346 (-)
BALB/cJ MGP_BALBcJ_G0027332
 protein coding gene Chr3:84291435-84388862 (-)
C3H/HeJ MGP_C3HHeJ_G0027075
 protein coding gene Chr3:86514766-86613320 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027778
 protein coding gene Chr3:90378263-90478103 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025131
 protein coding gene Chr3:79861694-79957894 (-)
CAST/EiJ MGP_CASTEiJ_G0026522
 protein coding gene Chr3:86731961-86846842 (-)
CBA/J MGP_CBAJ_G0027050
 protein coding gene Chr3:93424194-93522884 (-)
DBA/2J MGP_DBA2J_G0027186
 protein coding gene Chr3:83698702-83795457 (-)
FVB/NJ MGP_FVBNJ_G0027155
 protein coding gene Chr3:82016172-82113512 (-)
LP/J MGP_LPJ_G0027294
 protein coding gene Chr3:88105743-88204446 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027174
 protein coding gene Chr3:99715176-99813123 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027836
 protein coding gene Chr3:86005086-86106052 (-)
PWK/PhJ MGP_PWKPhJ_G0026255
 protein coding gene Chr3:83489121-83597218 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026072
 protein coding gene Chr3:85177568-85289596 (-)
WSB/EiJ MGP_WSBEiJ_G0026601
 protein coding gene Chr3:86389074-86492935 (-)



Homology
more
  • Human Ortholog
    KIRREL1, kirre like nephrin family adhesion molecule 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KIRREL1, kirre like nephrin family adhesion molecule 1
  • Synonyms
    KIRREL, NEPH1, NPHS23
  • Links
    NCBI Gene ID: 55243
    neXtProt AC: NX_Q96J84
    UniProt: Q96J84

  • Chr Location
    1q23.1; chr1:157993273-158100262 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human KIRREL1 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    23 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.
Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    9
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
membraneless 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
    945
  • Tissues
    94
  • cDNA Data
    55
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041734 Ensembl Gene Model | MGI Sequence Detail 96155 C57BL/6J ±  kb
    transcript ENSMUST00000159976 Ensembl | MGI Sequence Detail 7236 Not Applicable  
    polypeptide ENSMUSP00000125525 Ensembl | MGI Sequence Detail 789 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      cDNA 55
      Primer pair 3
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2443842, MGI:7485839
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 9
      Phenotypes 23
    • Earliest
      J:46940 Zambrowicz BP, et al., Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells. Nature. 1998 Apr 9;392(6676):608-11
    • Latest
      J:352627 Baltar J, et al., Neph1 is required for neurite branching and is negatively regulated by the PRRXL1 homeodomain factor in the developing spinal cord dorsal horn. Neural Dev. 2024 Jul 24;19(1):13
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory