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Igsf1 Gene Detail
Summary
  • Symbol
    Igsf1
  • Name
    immunoglobulin superfamily, member 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2147913
    NCBI Gene: 209268
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:48871413-48886626 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 26.06 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    260 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2147913
 protein coding gene ChrX:48871413-48886798 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035704
 protein coding gene ChrX:44937697-44956441 (-)
A/J MGP_AJ_G0035687
 protein coding gene ChrX:44779049-44794163 (-)
AKR/J MGP_AKRJ_G0035607
 protein coding gene ChrX:46021292-46036504 (-)
BALB/cJ MGP_BALBcJ_G0035673
 protein coding gene ChrX:44396899-44412353 (-)
C3H/HeJ MGP_C3HHeJ_G0035377
 protein coding gene ChrX:45213757-45229264 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036202
 protein coding gene ChrX:45987268-46006816 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033054
 protein coding gene ChrX:42451219-42466656 (-)
CAST/EiJ MGP_CASTEiJ_G0034668
 protein coding gene ChrX:32737486-32752023 (-)
CBA/J MGP_CBAJ_G0035351
 protein coding gene ChrX:47279514-47300775 (-)
DBA/2J MGP_DBA2J_G0035505
 protein coding gene ChrX:44616659-44631124 (-)
FVB/NJ MGP_FVBNJ_G0035454
 protein coding gene ChrX:44328959-44344244 (-)
LP/J MGP_LPJ_G0035593
 protein coding gene ChrX:45318479-45333682 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035492
 protein coding gene ChrX:48781657-48798578 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036220
 protein coding gene ChrX:44835583-44850922 (-)
PWK/PhJ MGP_PWKPhJ_G0034367
 protein coding gene ChrX:32204373-32220661 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034212
 protein coding gene ChrX:33547221-33564648 (-)
WSB/EiJ MGP_WSBEiJ_G0034812
 protein coding gene ChrX:44429485-44445966 (-)



Homology
more
  • Human Ortholog
    IGSF1, immunoglobulin superfamily member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    IGSF1, immunoglobulin superfamily member 1
  • Synonyms
    CHTE, IGCD1, IGDC1, INHBP, p120, PGSF2
  • Links
    NCBI Gene ID: 3547
    neXtProt AC: NX_Q8N6C5
    UniProt: Q8N6C5

  • Chr Location
    Xq26.1; chrX:131273506-131578899 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Igsf1 mouse models; 1 with human IGSF1 associations

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
    9 phenotypes from 1 allele in 1 genetic background
    8 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.
Females homozygous for disruptions of this gene show no obvious phenotypic change. Hemizygous males show hypothyroidism and increased body weight.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    5
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
    783
  • Tissues
    41
  • cDNA Data
    20
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031111 Ensembl Gene Model | MGI Sequence Detail 15214 C57BL/6J ±  kb
    transcript ENSMUST00000033442 Ensembl | MGI Sequence Detail 4421 Not Applicable  
    polypeptide ENSMUSP00000033442 Ensembl | MGI Sequence Detail 1317 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000008968 immunoglobulin superfamily member 1
      (term hierarchy)
    • InterPro Domains
      IPR007110 Immunoglobulin-like domain
      IPR036179 Immunoglobulin-like domain superfamily
      IPR013783 Immunoglobulin-like fold
      IPR050412 Immunoglobulin-like Receptors in Immune Regulation
      IPR003599 Immunoglobulin subtype
      IPR003598 Immunoglobulin subtype 2
    • GlyGen
      Q7TQA1 13 sites, 8 N-linked glycans (8 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 1
      cDNA 20
      Primer pair 1
      Other 2

      Microarray probesets 5
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 5
      Phenotypes 8
    • Earliest
      J:84383 Bernard DJ, et al., Normal reproductive function in InhBP/p120-deficient mice. Mol Cell Biol. 2003 Jul;23(14):4882-91
    • Latest
      J:327308 Brule E, et al., IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice. Endocrinology. 2022 Aug 1;163(8)
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory