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Gene

SPTA1

spectrin alpha, erythrocytic 1

Summary

Cytogenetic location
1q23.1
Coordinates
Chromosome 1: 158,610,704–158,686,715 (GRCh38)
Exons
52 exons across 76 kb
Protein
2,419 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
EL2
MANE Select transcript
ENST00000643759.2NM_003126.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Spherocytosis

    • Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Folic acid supplementation; splenectomy for moderate-severe disease (partial or total); pre-splenectomy vaccination; cholecystectomy for gallstones; transfusion support during aplastic crises; monitoring for parvovirus B19

  • Red Blood Cell Membrane Disorders

    • Hereditary PyropoikilocytosisAutosomal recessive

      A severe recessive red cell membrane disorder, usually caused by changes in both copies of SPTA1 or SPTB, in which red cells are fragile and abnormally shaped, causing haemolytic anaemia from infancy.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis guides transfusion support and decisions about spleen removal.

    • Hereditary ElliptocytosisAutosomal dominant

      Inherited changes in red cell skeleton proteins, mainly encoded by SPTA1, SPTB or EPB41, that make red cells oval or elongated; most people have no symptoms, but some have haemolytic anaemia.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it explains unusual blood film findings and guides management of anaemia where present.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SPTA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where SPTA1 sits. SPTA1 and 23 genes near it on chromosome 1, from 158,148,710 to 159,148,709.Chromosome 11q23.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44158.2 Mb158.4 Mb158.6 Mb158.8 Mb159 MbCD1D: 158,178,012–158,186,427, forward strandCD1DCD1A: 158,254,415–158,258,269, forward strandCD1ACD1C: 158,289,769–158,294,774, forward strandCD1CCD1B: 158,327,951–158,331,538, reverse strandCD1BCD1E: 158,353,696–158,357,553, forward strandCD1EOR10T2: 158,398,522–158,399,466, reverse strandOR10T2OR10K2: 158,418,210–158,426,237, reverse strandOR10K2OR10K1: 158,461,574–158,470,857, forward strandOR10K1OR10R2: 158,472,220–158,480,936, forward strandOR10R2OR6Y1: 158,544,550–158,554,405, reverse strandOR6Y1OR6P1: 158,560,606–158,570,580, reverse strandOR6P1OR10X1: 158,578,919–158,579,899, reverse strandOR10X1OR10Z1: 158,605,268–158,612,514, forward strandOR10Z1SPTA1: 158,610,704–158,686,715, reverse strandSPTA1OR6K2: 158,699,678–158,700,652, reverse strandOR6K2OR6K3: 158,716,327–158,720,720, reverse strandOR6K3OR6N1: 158,747,814–158,772,195, reverse strandOR6N1OR6K6: 158,754,720–158,755,891, forward strandOR6K6OR6N2: 158,774,222–158,781,204, reverse strandOR6N2MNDA: 158,802,264–158,849,517, forward strandMNDAPYHIN1: 158,930,779–158,977,059, forward strandPYHIN1IFI16: 158,999,938–159,055,156, forward strandIFI16PYDC5: 158,999,971–159,002,751, reverse strandPYDC5AIM2: 159,056,129–159,188,222, reverse strandAIM2Diagram of SPTA1: 52 exons on the reverse strand of chromosome 1Exon 49: 1 known disease-causing siteExon 48: 1 known disease-causing siteExon 44: 2 known disease-causing sitesExon 40: 1 known disease-causing siteExon 37: 2 known disease-causing sitesExon 35: 3 known disease-causing sitesExon 34: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 23: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 2: 6 known disease-causing sitesExon 52: 158,610,704–158,611,389, 686 basesExon 51: 158,612,817–158,612,961, 145 basesExon 50: 158,613,721–158,613,867, 147 basesExon 49: 158,614,253–158,614,306, 54 basesExon 48: 158,615,216–158,615,403, 188 basesExon 47: 158,617,537–158,617,588, 52 basesExon 46: 158,618,039–158,618,056, 18 basesExon 45: 158,619,222–158,619,334, 113 basesExon 44: 158,620,170–158,620,466, 297 basesExon 43: 158,622,983–158,623,192, 210 basesExon 42: 158,626,146–158,626,222, 77 basesExon 41: 158,626,839–158,627,007, 169 basesExon 40: 158,627,625–158,627,723, 99 basesExon 39: 158,634,543–158,634,675, 133 basesExon 38: 158,635,913–158,636,034, 122 basesExon 37: 158,636,641–158,636,761, 121 basesExon 36: 158,638,033–158,638,241, 209 basesExon 35: 158,639,582–158,639,686, 105 basesExon 34: 158,639,870–158,640,007, 138 basesExon 33: 158,642,411–158,642,542, 132 basesExon 32: 158,642,814–158,642,976, 163 basesExon 31: 158,643,322–158,643,425, 104 basesExon 30: 158,644,253–158,644,396, 144 basesExon 29: 158,645,188–158,645,385, 198 basesExon 28: 158,645,495–158,645,594, 100 basesExon 27: 158,647,539–158,647,720, 182 basesExon 26: 158,648,509–158,648,653, 145 basesExon 25: 158,649,856–158,649,947, 92 basesExon 24: 158,651,367–158,651,468, 102 basesExon 23: 158,652,467–158,652,653, 187 basesExon 22: 158,653,274–158,653,425, 152 basesExon 21: 158,654,611–158,654,748, 138 basesExon 20: 158,656,564–158,656,656, 93 basesExon 19: 158,657,477–158,657,694, 218 basesExon 18: 158,661,287–158,661,409, 123 basesExon 17: 158,662,702–158,662,945, 244 basesExon 16: 158,666,316–158,666,497, 182 basesExon 15: 158,667,858–158,668,062, 205 basesExon 14: 158,669,408–158,669,563, 156 basesExon 13: 158,669,709–158,669,786, 78 basesExon 12: 158,671,343–158,671,453, 111 basesExon 11: 158,672,059–158,672,196, 138 basesExon 10: 158,674,329–158,674,430, 102 basesExon 9: 158,674,540–158,674,675, 136 basesExon 8: 158,676,141–158,676,295, 155 basesExon 7: 158,677,690–158,677,834, 145 basesExon 6: 158,678,401–158,678,534, 134 basesExon 5: 158,680,583–158,680,729, 147 basesExon 4: 158,681,527–158,681,667, 141 basesExon 3: 158,683,371–158,683,496, 126 basesExon 2: 158,685,108–158,685,347, 240 basesExon 1: 158,686,494–158,686,715, 222 bases52504540353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8 kb of the gene's 76 kb; 7,260 of those bases code for the protein.

How a genome test reads SPTA1

44

positions in SPTA1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 76 kb of SPTA1, introns included, not only the 8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SPTA1 gene: spectrin alpha, erythrocytic 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/spta1

Vancouver

Dante Labs. SPTA1 gene: spectrin alpha, erythrocytic 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spta1

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