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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
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr7:127902016-127902926 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7,
Strain
Comparison
more
  • SNPs within 2kb
    51 from dbSNP Build 142
  • Strain Annotations
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2158492
 protein coding gene Chr7:127901969-127902930 (+)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    AHSP, alpha hemoglobin stabilizing protein
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AHSP, alpha hemoglobin stabilizing protein
  • Synonyms
    EDRF, ERAF
  • Links
    NCBI Gene ID: 51327
    neXtProt AC: NX_Q9NZD4
    UniProt: Q9NZD4

  • Chr Location
    16p11.2; chr16:31527900-31528803 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    10 phenotypes from multigenic genotypes
    6 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 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
less
  • All GO Annotations
    9
  • GO References
    3
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
    48
  • Tissues
    4
  • cDNA Data
    44
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    • All Sequences
      17
    • RefSeq
      2
    • UniProt
      2
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170812 NCBI Gene Model | MGI Sequence Detail 911 C57BL/6J ±  kb
    transcript NM_133245 RefSeq | MGI Sequence Detail 492 ZRU/MplStud  
    polypeptide Q9CY02 UniProt | EBI | MGI Sequence Detail 102 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR036468 AHSP superfamily
      IPR015317 Alpha-haemoglobin stabilising protein
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 44

      Microarray probesets 1
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 3
      Phenotypes 6
    • 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:322622 Han G, et al., Nrf2 expands the intracellular pool of the chaperone AHSP in a cellular model of beta-thalassemia. Redox Biol. 2022 Apr;50:102239
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory