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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
Location & Maps
more
  • Sequence Map
    Chr1:174172776-174248450 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      75675 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 80.97 cM
  • Mapping Data
    66 experiments
Homology
more
  • Human Ortholog
    SPTA1, spectrin alpha, erythrocytic 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SPTA1, spectrin alpha, erythrocytic 1
    Orthology source: HomoloGene
  • Synonyms
    EL2, HPP, HS3, SPH3, SPTA
  • Links
    NCBI Gene ID: 6708
    neXtProt AC: NX_P02549

  • Chr Location
    1q21; chr1:158610498-158686716 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Spta1 mouse models; 3 with human SPTA1 associations

Human Disease Mouse Models
       Spherocytosis, Type 3; SPH3   OMIM: 270970 View 5 models
       Sickle Cell Anemia   OMIM: 603903 View 1 model
Spherocytosis, Type 1; SPH1   OMIM: 182900 View 3 models
       Elliptocytosis 2; EL2   OMIM: 130600
Pyropoikilocytosis, Hereditary; HPP   OMIM: 266140
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
    39 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.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Spontaneous
    7
  • Targeted
    1
  • Genomic Mutations
    2 involving Spta1
  • Incidental Mutations
    APF , CvDC
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029638 VEGA Gene Model | MGI Sequence Detail 75675 C57BL/6J ±  kb
transcript OTTMUST00000073524 VEGA | MGI Sequence Detail 8406 Not Applicable  
polypeptide OTTMUSP00000038061 VEGA | MGI Sequence Detail 2415 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1380 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 28
    Genomic 3
    cDNA 22
    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 115
    Developmental Gene Expression 6
    Diseases 8
    Gene Ontology 15
    Phenotypes 39
  • Earliest
    J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50:35-9
  • Latest
    J:216288 Jones C, et al., Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear. Dev Biol. 2014 Nov 1;395(1):62-72

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
06/15/2016
MGI 6.04
The Jackson Laboratory