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    sptan1 spectrin alpha, non-erythrocytic 1 [ Danio rerio (zebrafish) ]

    Gene ID: 553383, updated on 9-Dec-2024

    Summary

    Official Symbol
    sptan1provided by ZNC
    Official Full Name
    spectrin alpha, non-erythrocytic 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-051113-60
    See related
    Ensembl:ENSDARG00000019231 AllianceGenome:ZFIN:ZDB-GENE-051113-60
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    spna2; im:7157190; wu:fa20e05; wu:fb33g08; wu:fk32a10; zgc:112229
    Summary
    Predicted to enable actin filament binding activity. Acts upstream of or within clustering of voltage-gated sodium channels and myelination in peripheral nervous system. Located in node of Ranvier and paranode region of axon. Is expressed in several structures, including bone tissue; cranial ganglion; eye; immature eye; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See sptan1 in Genome Data Viewer
    Location:
    chromosome: 21
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 21 NC_007132.7 (13150954..13217905)
    105 previous assembly GRCz10 (GCF_000002035.5) 21 NC_007132.6 (13053930..13120917)

    Chromosome 21 - NC_007132.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 219 member Aa Neighboring gene si:dkey-228b2.6 Neighboring gene outer dense fiber of sperm tails 2a Neighboring gene uncharacterized LOC137488787 Neighboring gene dynein 2 intermediate chain 2 Neighboring gene sperm antigen with calponin homology and coiled-coil domains 1-like b Neighboring gene SET nuclear proto-oncogene b Neighboring gene adenosine A2a receptor b

    Genomic regions, transcripts, and products

    Expression

    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC112229

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables actin filament binding  
    enables calcium ion binding  
    enables calmodulin binding  
    enables metal ion binding  
    Component Evidence Code Pubs
    is_active_in cell junction  
    is_active_in cell projection  
    is_active_in cortical actin cytoskeleton  
    located_in cytoplasm  
    located_in node of Ranvier PubMed 
    located_in paranode region of axon PubMed 
    is_active_in plasma membrane  

    General protein information

    Preferred Names
    spectrin alpha chain, non-erythrocytic 1
    Names
    alpha2 spectrin
    spectrin alpha 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098488.1 → NP_001091958.1  spectrin alpha chain, non-erythrocytic 1

      See identical proteins and their annotated locations for NP_001091958.1

      Status: PROVISIONAL

      Source sequence(s)
      EF375552
      UniProtKB/TrEMBL
      A3FG33
      Related
      ENSDARP00000093027.3, ENSDART00000102251.5
      Conserved Domains (6) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2335 → 2403
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1666 → 1770
      Spectrin; Spectrin repeat
      pfam08726
      Location:2410 → 2478
      EFhand_Ca_insen; Ca2+ insensitive EF hand
      pfam13499
      Location:2338 → 2403
      EF-hand_7; EF-hand domain pair

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007132.7 Reference GRCz11 Primary Assembly

      Range
      13150954..13217905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021468824.2 → XP_021324499.1  spectrin alpha chain, non-erythrocytic 1 isoform X2

      UniProtKB/TrEMBL
      A0A8M9PQF2
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2356 → 2424
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1666 → 1770
      Spectrin; Spectrin repeat
      pfam08726
      Location:2431 → 2499
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    2. XM_021468826.2 → XP_021324501.1  spectrin alpha chain, non-erythrocytic 1 isoform X2

      UniProtKB/TrEMBL
      A0A8M9PQF2
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2356 → 2424
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1666 → 1770
      Spectrin; Spectrin repeat
      pfam08726
      Location:2431 → 2499
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    3. XM_021468825.2 → XP_021324500.1  spectrin alpha chain, non-erythrocytic 1 isoform X2

      UniProtKB/TrEMBL
      A0A8M9PQF2
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2356 → 2424
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1666 → 1770
      Spectrin; Spectrin repeat
      pfam08726
      Location:2431 → 2499
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    4. XM_021468831.1 → XP_021324506.1  spectrin alpha chain, non-erythrocytic 1 isoform X8

      UniProtKB/TrEMBL
      A0A8M9PQF8
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2329 → 2397
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1666 → 1770
      Spectrin; Spectrin repeat
      pfam08726
      Location:2404 → 2472
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    5. XM_021468823.1 → XP_021324498.1  spectrin alpha chain, non-erythrocytic 1 isoform X1

      UniProtKB/TrEMBL
      A0A8M9PCM4
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2351 → 2419
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1661 → 1765
      Spectrin; Spectrin repeat
      pfam08726
      Location:2426 → 2494
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    6. XM_021468830.1 → XP_021324505.1  spectrin alpha chain, non-erythrocytic 1 isoform X7

      UniProtKB/TrEMBL
      A0A8M9PTV0
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2330 → 2398
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1661 → 1765
      Spectrin; Spectrin repeat
      pfam08726
      Location:2405 → 2473
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    7. XM_021468828.1 → XP_021324503.1  spectrin alpha chain, non-erythrocytic 1 isoform X4

      UniProtKB/TrEMBL
      A0A8M9PCN0
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2340 → 2408
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1650 → 1754
      Spectrin; Spectrin repeat
      pfam08726
      Location:2415 → 2483
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    8. XM_068215867.1 → XP_068071968.1  spectrin alpha chain, non-erythrocytic 1 isoform X6

    9. XM_021468827.1 → XP_021324502.1  spectrin alpha chain, non-erythrocytic 1 isoform X3

      UniProtKB/TrEMBL
      A0A8M9P3A5
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2345 → 2413
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1655 → 1759
      Spectrin; Spectrin repeat
      pfam08726
      Location:2420 → 2488
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    10. XM_021468832.1 → XP_021324507.1  spectrin alpha chain, non-erythrocytic 1 isoform X9

      UniProtKB/TrEMBL
      A0A8M9P3B0
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2329 → 2397
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1639 → 1743
      Spectrin; Spectrin repeat
      pfam08726
      Location:2404 → 2472
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    11. XM_021468829.1 → XP_021324504.1  spectrin alpha chain, non-erythrocytic 1 isoform X5

      UniProtKB/TrEMBL
      A0A8M9PI94
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2336 → 2404
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1646 → 1750
      Spectrin; Spectrin repeat
      pfam08726
      Location:2411 → 2479
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    12. XM_021468833.1 → XP_021324508.1  spectrin alpha chain, non-erythrocytic 1 isoform X10

      UniProtKB/TrEMBL
      A0A8M9PCN5
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2315 → 2383
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1646 → 1750
      Spectrin; Spectrin repeat
      pfam08726
      Location:2390 → 2458
      EFhand_Ca_insen; Ca2+ insensitive EF hand
    13. XM_021468834.1 → XP_021324509.1  spectrin alpha chain, non-erythrocytic 1 isoform X11

      UniProtKB/TrEMBL
      A0A8M9PI97
      Conserved Domains (5) summary
      cd11808
      Location:971 → 1023
      SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin
      cd00051
      Location:2310 → 2378
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:679 → 890
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00435
      Location:1641 → 1745
      Spectrin; Spectrin repeat
      pfam08726
      Location:2385 → 2453
      EFhand_Ca_insen; Ca2+ insensitive EF hand
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