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    Spag1 sperm associated antigen 1 [ Mus musculus (house mouse) ]

    Gene ID: 26942, updated on 9-Dec-2024

    Summary

    Official Symbol
    Spag1provided by MGI
    Official Full Name
    sperm associated antigen 1provided by MGI
    Primary source
    MGI:MGI:1349387
    See related
    Ensembl:ENSMUSG00000037617 AllianceGenome:MGI:1349387
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    tpis
    Summary
    Predicted to enable GTP binding activity and hydrolase activity. Predicted to be involved in axonemal dynein complex assembly. Predicted to be located in cytoplasm. Predicted to be part of protein folding chaperone complex. Predicted to be active in cytosol. Is expressed in several structures, including blastocyst; early embryo; foregut; gonad; and skin. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 28. Orthologous to human SPAG1 (sperm associated antigen 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 3.6), testis adult (RPKM 2.9) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Spag1 in Genome Data Viewer
    Location:
    15 B3.1; 15 14.46 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (36175629..36235767)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (36176229..36235621)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene regulator of G-protein signalling 22 Neighboring gene STARR-seq mESC enhancer starr_38352 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene Neighboring gene F-box protein 43 Neighboring gene predicted gene, 22979 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide K Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:36144507-36144717 Neighboring gene predicted gene, 23754 Neighboring gene predicted gene, 41293 Neighboring gene microRNA 8097 Neighboring gene ring finger protein 19A Neighboring gene lactate dehydrogenase A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dynein axonemal particle IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein folding chaperone complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein folding chaperone complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sperm-associated antigen 1
    Names
    TPR-containing protein involved in spermatogenesis
    infertility-related sperm protein Spag-1

    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_001359980.1NP_001346909.1  sperm-associated antigen 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC121577
      Consensus CDS
      CCDS37061.1
      UniProtKB/Swiss-Prot
      Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4
      Related
      ENSMUSP00000047335.4, ENSMUST00000047348.11
      Conserved Domains (4) summary
      PLN03088
      Location:619795
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:202686
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:217241
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:777866
      RPAP3_C; Potential Monad-binding region of RPAP3
    2. NM_001359981.1NP_001346910.1  sperm-associated antigen 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 5 and 6 encode the same protein.
      Source sequence(s)
      AC121577
      Conserved Domains (4) summary
      PLN03088
      Location:631807
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:214698
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:229253
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:789878
      RPAP3_C; Potential Monad-binding region of RPAP3
    3. NM_001359982.1NP_001346911.1  sperm-associated antigen 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 5 and 6 encode the same protein.
      Source sequence(s)
      AC121577
      Conserved Domains (4) summary
      PLN03088
      Location:631807
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:214698
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:229253
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:789878
      RPAP3_C; Potential Monad-binding region of RPAP3
    4. NM_001359983.1NP_001346912.1  sperm-associated antigen 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC121577
      Conserved Domains (4) summary
      PLN03088
      Location:3106
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:200437
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:374401
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:544633
      RPAP3_C; Potential Monad-binding region of RPAP3
    5. NM_001359984.1NP_001346913.1  sperm-associated antigen 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 5 and 6 encode the same protein.
      Source sequence(s)
      AC121577
      Conserved Domains (4) summary
      PLN03088
      Location:631807
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:214698
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:229253
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:789878
      RPAP3_C; Potential Monad-binding region of RPAP3
    6. NM_001416284.1NP_001403213.1  sperm-associated antigen 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC121577
      UniProtKB/Swiss-Prot
      Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4
    7. NM_012031.4NP_036161.2  sperm-associated antigen 1 isoform 3

      See identical proteins and their annotated locations for NP_036161.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI843673, BB706348, BC046313
      Consensus CDS
      CCDS37061.1
      UniProtKB/Swiss-Prot
      Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4
      Related
      ENSMUSP00000132233.2, ENSMUST00000171205.3
      Conserved Domains (4) summary
      PLN03088
      Location:619795
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:202686
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:217241
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:777866
      RPAP3_C; Potential Monad-binding region of RPAP3

    RNA

    1. NR_153381.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC121577

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      36175629..36235767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159438.1XP_036015331.1  sperm-associated antigen 1 isoform X1

      Conserved Domains (4) summary
      PLN03088
      Location:631807
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:214698
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:229253
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:789878
      RPAP3_C; Potential Monad-binding region of RPAP3
    2. XM_017316634.3XP_017172123.1  sperm-associated antigen 1 isoform X1

      Conserved Domains (4) summary
      PLN03088
      Location:631807
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:214698
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:229253
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:789878
      RPAP3_C; Potential Monad-binding region of RPAP3
    3. XM_036159441.1XP_036015334.1  sperm-associated antigen 1 isoform X3

      Conserved Domains (4) summary
      PLN03088
      Location:3106
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:200437
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:374401
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:544633
      RPAP3_C; Potential Monad-binding region of RPAP3
    4. XM_006520076.3XP_006520139.1  sperm-associated antigen 1 isoform X2

      See identical proteins and their annotated locations for XP_006520139.1

      UniProtKB/Swiss-Prot
      Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4
      Conserved Domains (4) summary
      PLN03088
      Location:619795
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:202686
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:217241
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:777866
      RPAP3_C; Potential Monad-binding region of RPAP3
    5. XM_006520078.5XP_006520141.1  sperm-associated antigen 1 isoform X3

      See identical proteins and their annotated locations for XP_006520141.1

      UniProtKB/Swiss-Prot
      Q80ZX8
      Conserved Domains (4) summary
      PLN03088
      Location:3106
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      TIGR00990
      Location:200437
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:374401
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:544633
      RPAP3_C; Potential Monad-binding region of RPAP3

    RNA

    1. XR_001781540.3 RNA Sequence