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Spta1 Gene Detail
Summary
  • Symbol
    Spta1
  • Name
    spectrin alpha, erythrocytic 1
  • Synonyms
    erythroid, ihj, Spna-1, Spna1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98385
    NCBI Gene: 20739
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:174000342-174076016 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 80.97 cM
  • Mapping Data
    66 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2669 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    13
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98385
 protein coding gene Chr1:174000305-174076016 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016827
 protein coding gene Chr1:180227116-180308003 (+)
A/J MGP_AJ_G0016806
 protein coding gene Chr1:172918743-172989115 (+)
AKR/J MGP_AKRJ_G0016772
 protein coding gene Chr1:178135026-178207869 (+)
BALB/cJ MGP_BALBcJ_G0016764
 protein coding gene Chr1:173440519-173528934 (+)
C3H/HeJ MGP_C3HHeJ_G0016589
 protein coding gene Chr1:178762254-178833701 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017227
 protein coding gene Chr1:186275849-186353238 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014934
 protein coding gene Chr1:164379711-164452363 (+)
CAST/EiJ MGP_CASTEiJ_G0016169
 protein coding gene Chr1:178108482-178188291 (+)
CBA/J MGP_CBAJ_G0016563
 protein coding gene Chr1:192989738-193069937 (+)
DBA/2J MGP_DBA2J_G0016668
 protein coding gene Chr1:171855647-171928233 (+)
FVB/NJ MGP_FVBNJ_G0016665
 protein coding gene Chr1:169940049-170015697 (+)
LP/J MGP_LPJ_G0016744
 protein coding gene Chr1:181354572-181443007 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016696
 protein coding gene Chr1:200186577-200259639 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017262
 protein coding gene Chr1:177953323-178038232 (+)
PWK/PhJ MGP_PWKPhJ_G0015957
 protein coding gene Chr1:170938089-171016890 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015734
 protein coding gene Chr1:176969683-177046692 (+)
WSB/EiJ MGP_WSBEiJ_G0016232
 protein coding gene Chr1:178107239-178189885 (+)



Homology
more
  • Human Ortholog
    SPTA1, spectrin alpha, erythrocytic 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPTA1, spectrin alpha, erythrocytic 1
  • Synonyms
    EL2, HPP, HS3, SPH3, SPTA
  • Links
    NCBI Gene ID: 6708
    neXtProt AC: NX_P02549
    UniProt: P02549

  • Chr Location
    1q23.1; chr1:158610704-158686715 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Spta1 mouse models; 2 with human SPTA1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
 View 3 models
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    109 phenotypes from 9 alleles in 16 genetic backgrounds
    46 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.
Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    41
  • GO References
    17
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
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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
    735
  • Tissues
    4
  • cDNA Data
    19
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026532 Ensembl Gene Model | MGI Sequence Detail 75675 C57BL/6J ±  kb
    transcript ENSMUST00000027817 Ensembl | MGI Sequence Detail 8406 Not Applicable  
    polypeptide ENSMUSP00000027817 Ensembl | MGI Sequence Detail 2415 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 3
      cDNA 23
      Primer pair 2
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10606, MGD-MRK-14518, MGD-MRK-14535, MGD-MRK-14537, MGI:2138146, MGI:2138256, MGI:3615012
    References
    more
    • Summaries
      All 130
      Developmental Gene Expression 7
      Diseases 8
      Gene Ontology 17
      Phenotypes 46
    • Earliest
      J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50(1):35-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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