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Spta1 Gene Detail
Summary
  • Symbol
    Spta1
  • Name
    spectrin alpha, erythrocytic 1
  • Synonyms
    erythroid, ihj, Spna1, Spna-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98385
    NCBI Gene: 20739
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:174172776-174248449 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 80.97 cM
  • Mapping Data
    66 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1380 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98385
protein coding gene Chr1:174172776-174248450 (.)
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
    7
  • Human Ortholog
    SPTA1, spectrin alpha, erythrocytic 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EL2, HPP, HS3, SPH3, SPTA
  • Links
    NCBI Gene ID: 6708
    neXtProt AC: NX_P02549
    UniProt: P02549

  • Chr Location
    1q23.1; chr1:158610498-158686716 (-)  GRCh38.p7

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
    105 phenotypes from 8 alleles in 15 genetic backgrounds
    40 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.
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
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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 population 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
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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20739 NCBI Gene Model | MGI Sequence Detail 75674 C57BL/6J ±  kb
    transcript NM_011465 RefSeq | MGI Sequence Detail 8405 C57BL/6  
    polypeptide P08032 UniProt | EBI | MGI Sequence Detail 2415 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 3
      cDNA 23
      Primer pair 2
      Other 1

      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 122
      Developmental Gene Expression 7
      Diseases 8
      Gene Ontology 15
      Phenotypes 40
    • Earliest
      J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50:35-9
    • Latest
      J:243442 Byun S, et al., A postprandial FGF19-SHP-LSD1 regulatory axis mediates epigenetic repression of hepatic autophagy. EMBO J. 2017 Jun 14;36(12):1755-1769

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory