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Ahsp Gene Detail
Summary
  • Symbol
    Ahsp
  • Name
    alpha hemoglobin stabilizing protein
  • Synonyms
    Eraf
  • Feature Type
    protein coding gene
  • IDs
    MGI:2158492
    NCBI Gene: 170812
  • Gene Overview
    MyGene.info: AHSP
  • Alliance
Location & Maps
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  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome Unknown
Homology
more
  • Human Ortholog
    AHSP, alpha hemoglobin stabilizing protein
  • Human Ortholog
    AHSP, alpha hemoglobin stabilizing protein
    Orthology source: HGNC
  • Synonyms
    EDRF, ERAF
  • Links
    NCBI Gene ID: 51327
    neXtProt AC: NX_Q9NZD4
    UniProt: Q9NZD4

  • Chr Location
    16p11.2; chr16:31527852-31528804 (+)  GRCh38.p7

  • HCOP
    human homology predictions: AHSP
Human Diseases
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  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    10 phenotypes from multigenic genotypes
    4 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 targeted mutation are viable and developmentally normal but exhibit reticulocytosis and abnormal erythrocyte morphology with intracellular inclusion bodies that stain positively for denatured hemoglobins.
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
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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
  • Sequences &
    Gene Models
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    • All Sequences
    • RefSeq
    • UniProt
    • UniGene
    Representative SequencesLengthStrain/SpeciesFlank
    transcript NM_133245 RefSeq | MGI Sequence Detail 494 C57BL/6  
    polypeptide Q9CY02 UniProt | EBI | MGI Sequence Detail 102 Not Applicable  
    For the selected sequence
    Protein
    Information
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    • UniProt
      2 Sequences
    • InterPro Domains
      IPR036468 AHSP superfamily
      IPR015317 Alpha-haemoglobin stabilising protein
    Molecular
    Reagents
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    • All nucleic 44
      cDNA 44

      Microarray probesets 1
    References
    more
    • Summaries
      All 26
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 3
      Phenotypes 4
    • Earliest
      J:73795 Miele G, et al., A novel erythroid-specific marker of transmissible spongiform encephalopathies. Nat Med. 2001 Mar;7(3):361-4
    • Latest
      J:243727 Nguyen AT, et al., UBE2O remodels the proteome during terminal erythroid differentiation. Science. 2017 Aug 04;357(6350)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory