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    SPAG1 sperm associated antigen 1 [ Homo sapiens (human) ]

    Gene ID: 6674, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SPAG1provided by HGNC
    Official Full Name
    sperm associated antigen 1provided by HGNC
    Primary source
    HGNC:HGNC:11212
    See related
    Ensembl:ENSG00000104450 MIM:603395; AllianceGenome:HGNC:11212
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SP75; TPIS; CT140; CILD28; DNAAF13; HSD-3.8; HEL-S-268
    Summary
    The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in colon (RPKM 8.4), testis (RPKM 7.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPAG1 in Genome Data Viewer
    Location:
    8q22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (100158038..100241904)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101282818..101366675)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101170266..101254132)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101162699-101163202 Neighboring gene F-box protein 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19410 Neighboring gene RNA polymerase II, I and III subunit K Neighboring gene UFM1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19412 Neighboring gene uncharacterized LOC105375669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27688 Neighboring gene ring finger protein 19A, RBR E3 ubiquitin protein ligase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19415 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:101322379-101322538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27691 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101347648-101348460 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101348461-101349272 Neighboring gene uncharacterized LOC124901991

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation and sequencing of the cDNA encoding the 75-kD human sperm protein related to infertility. Zhang ML, et al. Chin Med J (Engl), 1992 Dec. PMID 1299558
    2. Isolation and characterization of a human sperm antigen gene h-Sp-1. Kanazawa R, et al. Int J Androl, 2003 Aug. PMID 12846798
    3. SPAG1 promotes the development of AML by activating the ERK/MAPK signaling pathway and affects the chemotherapy sensitivity of venetoclax. Liu L, et al. Neoplasma, 2022 Sep. PMID 35951456
    4. Binding properties of the quaternary assembly protein SPAG1. Chagot ME, et al. Biochem J, 2019 Jun 14. PMID 31118266
    5. Comprehensive analysis of SPAG1 expression as a prognostic and predictive biomarker in acute myeloid leukemia by integrative bioinformatics and clinical validation. Gu Y, et al. BMC Med Genomics, 2022 Feb 28. PMID 35227274, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPAG1 promotes the development of AML by activating the ERK/MAPK signaling pathway and affects the chemotherapy sensitivity of venetoclax.
      Title: SPAG1 promotes the development of AML by activating the ERK/MAPK signaling pathway and affects the chemotherapy sensitivity of venetoclax.
    2. Comprehensive analysis of SPAG1 expression as a prognostic and predictive biomarker in acute myeloid leukemia by integrative bioinformatics and clinical validation.
      Title: Comprehensive analysis of SPAG1 expression as a prognostic and predictive biomarker in acute myeloid leukemia by integrative bioinformatics and clinical validation.
    3. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia.
      Title: The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia.
    4. Optimizing the First TPR Domain of the Human SPAG1 Protein Provides Insight into the HSP70 and HSP90 Binding Properties.
      Title: Optimizing the First TPR Domain of the Human SPAG1 Protein Provides Insight into the HSP70 and HSP90 Binding Properties.
    5. Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2.
      Title: Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2.
    6. Demonstrated that a SPAG1 sub-fragment, containing a putative P-loop motif, cannot efficiently bind and hydrolyze GTP in vitro Our data challenge the interpretation of SPAG1 possessing GTPase activity. We propose instead that SPAG1 regulates nucleotide hydrolysis activity of the HSP and RUVBL1/2 partners.
      Title: Binding properties of the quaternary assembly protein SPAG1.
    7. SPAG1 probably plays a role in the cytoplasmic assembly.
      Title: Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
    8. HSD-3.8 (SPAG1), interacts with G-protein beta 1 subunit and activates extracellular signal-regulated kinases 1 and 2
      Title: A sperm component, HSD-3.8 (SPAG1), interacts with G-protein beta 1 subunit and activates extracellular signal-regulated kinases (ERK).
    9. The h-Sp-1 molecule is expressed in sperm and testes and plays a role in fertilization.
      Title: Isolation and characterization of a human sperm antigen gene h-Sp-1.
    10. Immunocytochemical analysis demonstrated colocalization of SPAG1 with microtubules, and their association was confirmed by co-immunoprecipitation; subsequent motility assays further substantiated a potential role of SPAG1 in cancer cell motility
      Title: Sperm-associated antigen 1 is expressed early in pancreatic tumorigenesis and promotes motility of cancer cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 28
    MedGen: C3809706 OMIM: 615505 GeneReviews: Primary Ciliary Dyskinesia
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32920

    Gene Ontology Provided by GOA

    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 protein stabilization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in dynein axonemal particle IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein folding chaperone complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sperm-associated antigen 1
    Names
    TPR-containing protein involved in spermatogenesis
    dynein axonemal assembly factor 13
    epididymis secretory protein Li 268
    infertility-related sperm protein Spag-1
    tetratricopeptide repeat-containing protein

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_033834.2 RefSeqGene

      Range
      5553..88870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001374321.1 → NP_001361250.1  sperm-associated antigen 1

      Status: REVIEWED

      Source sequence(s)
      AC025647
      Consensus CDS
      CCDS34930.1
      UniProtKB/Swiss-Prot
      A6NP70, B3KQ58, G3XAM3, Q07617, Q7Z5G1
      Conserved Domains (3) summary
      TIGR00990
      Location:141 → 339
      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:624 → 651
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:802 → 891
      RPAP3_C; Potential Monad-binding region of RPAP3

    2. NM_003114.5 → NP_003105.2  sperm-associated antigen 1

      See identical proteins and their annotated locations for NP_003105.2

      Status: REVIEWED

      Source sequence(s)
      AC025647
      Consensus CDS
      CCDS34930.1
      UniProtKB/Swiss-Prot
      A6NP70, B3KQ58, G3XAM3, Q07617, Q7Z5G1
      Related
      ENSP00000373450.3, ENST00000388798.7
      Conserved Domains (3) summary
      TIGR00990
      Location:141 → 339
      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:624 → 651
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:802 → 891
      RPAP3_C; Potential Monad-binding region of RPAP3

    3. NM_172218.3 → NP_757367.1  sperm-associated antigen 1

      See identical proteins and their annotated locations for NP_757367.1

      Status: REVIEWED

      Source sequence(s)
      AC025647
      Consensus CDS
      CCDS34930.1
      UniProtKB/Swiss-Prot
      A6NP70, B3KQ58, G3XAM3, Q07617, Q7Z5G1
      Related
      ENSP00000251809.3, ENST00000251809.4
      Conserved Domains (3) summary
      TIGR00990
      Location:141 → 339
      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:624 → 651
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:802 → 891
      RPAP3_C; Potential Monad-binding region of RPAP3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      100158038..100241904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422128.1 → XP_047278084.1  sperm-associated antigen 1 isoform X3

      UniProtKB/Swiss-Prot
      A6NP70, B3KQ58, G3XAM3, Q07617, Q7Z5G1

    2. XM_011517241.3 → XP_011515543.1  sperm-associated antigen 1 isoform X2

      Conserved Domains (5) summary
      smart00028
      Location:659 → 690
      TPR; Tetratricopeptide repeats
      sd00006
      Location:213 → 237
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:242 → 275
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:624 → 687
      TPR_11; TPR repeat
      pfam13877
      Location:747 → 839
      RPAP3_C; Potential Monad-binding region of RPAP3

    3. XM_011517240.3 → XP_011515542.1  sperm-associated antigen 1 isoform X1

      Conserved Domains (5) summary
      smart00028
      Location:608 → 639
      TPR; Tetratricopeptide repeats
      sd00006
      Location:573 → 600
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:242 → 275
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:573 → 636
      TPR_11; TPR repeat
      pfam13877
      Location:751 → 843
      RPAP3_C; Potential Monad-binding region of RPAP3

    4. XM_047422129.1 → XP_047278085.1  sperm-associated antigen 1 isoform X4

    5. XM_047422130.1 → XP_047278086.1  sperm-associated antigen 1 isoform X5

    6. XM_047422131.1 → XP_047278087.1  sperm-associated antigen 1 isoform X7

    7. XM_011517245.3 → XP_011515547.1  sperm-associated antigen 1 isoform X6

      Conserved Domains (4) summary
      sd00006
      Location:213 → 237
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:242 → 275
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:213 → 273
      TPR_11; TPR repeat
      pfam13431
      Location:265 → 295
      TPR_17; Tetratricopeptide repeat

    8. XM_011517243.3 → XP_011515545.1  sperm-associated antigen 1 isoform X3

      See identical proteins and their annotated locations for XP_011515545.1

      UniProtKB/Swiss-Prot
      A6NP70, B3KQ58, G3XAM3, Q07617, Q7Z5G1
      Conserved Domains (3) summary
      TIGR00990
      Location:141 → 339
      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:624 → 651
      TPR; TPR repeat [structural motif]
      pfam13877
      Location:802 → 891
      RPAP3_C; Potential Monad-binding region of RPAP3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      101282818..101366675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361064.1 → XP_054217039.1  sperm-associated antigen 1 isoform X2

    2. XM_054361063.1 → XP_054217038.1  sperm-associated antigen 1 isoform X1

    3. XM_054361066.1 → XP_054217041.1  sperm-associated antigen 1 isoform X4

    4. XM_054361067.1 → XP_054217042.1  sperm-associated antigen 1 isoform X5

    5. XM_054361069.1 → XP_054217044.1  sperm-associated antigen 1 isoform X7

    6. XM_054361068.1 → XP_054217043.1  sperm-associated antigen 1 isoform X6

    7. XM_054361065.1 → XP_054217040.1  sperm-associated antigen 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07617.3 GenPept UniProtKB/Swiss-Prot:Q07617

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