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B9d1 Gene Detail
Summary
  • Symbol
    B9d1
  • Name
    B9 protein domain 1
  • Synonyms
    B9, Eppb9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351471
    NCBI Gene: 27078
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:61505163-61512929 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.96 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    65 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351471
protein coding gene Chr11:61505144-61512931 (.)
129S1/SvImJ MGP_129S1SvImJ_G0018441
protein coding gene Chr11:61469710-61477502 (+)
A/J MGP_AJ_G0018410
protein coding gene Chr11:59199712-59207499 (+)
AKR/J MGP_AKRJ_G0018380
protein coding gene Chr11:61041565-61049358 (+)
BALB/cJ MGP_BALBcJ_G0018381
protein coding gene Chr11:59505171-59512958 (+)
C3H/HeJ MGP_C3HHeJ_G0018194
protein coding gene Chr11:61023645-61031432 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018833
protein coding gene Chr11:63420184-63427971 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016479
protein coding gene Chr11:56325843-56333393 (+)
CAST/EiJ MGP_CASTEiJ_G0017751
protein coding gene Chr11:61130733-61138516 (+)
CBA/J MGP_CBAJ_G0018168
protein coding gene Chr11:66168417-66176204 (+)
DBA/2J MGP_DBA2J_G0018277
protein coding gene Chr11:58773570-58781355 (+)
FVB/NJ MGP_FVBNJ_G0018268
protein coding gene Chr11:58458360-58466153 (+)
LP/J MGP_LPJ_G0018350
protein coding gene Chr11:62038281-62046289 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018292
protein coding gene Chr11:67184508-67192270 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018874
protein coding gene Chr11:61178269-61186061 (+)
PWK/PhJ MGP_PWKPhJ_G0017524
protein coding gene Chr11:59371965-59379750 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017314
protein coding gene Chr11:61000601-61008359 (+)
WSB/EiJ MGP_WSBEiJ_G0017803
protein coding gene Chr11:60783049-60790841 (+)



Homology
more
  • Human Ortholog
    B9D1, B9 domain containing 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    B9D1, B9 domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    B9, EPPB9, JBTS27, MKS9, MKSR1
  • Links
    NCBI Gene ID: 27077
    neXtProt AC: NX_Q9UPM9
    UniProt: Q9UPM9

  • Chr Location
    17p11.2; chr17:19335372-19378193 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 8440
    1 human;1 mouse;2 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: B9D1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with B9d1 mouse models; 1 with human B9D1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
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  • Phenotype Summary
    37 phenotypes from 2 alleles in 4 genetic backgrounds
    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
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.
Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium.
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 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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 27078 NCBI Gene Model | MGI Sequence Detail 7767 C57BL/6J ±  kb
transcript NM_013717 RefSeq | MGI Sequence Detail 834 C57BL/6  
polypeptide Q9R1S0 UniProt | EBI | MGI Sequence Detail 204 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 47
    cDNA 47

    Microarray probesets 3
Other
Accession IDs
less
MGI:2144479
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 6
    Phenotypes 10
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:237132 Burnicka-Turek O, et al., Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory