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    SPAG8 sperm associated antigen 8 [ Homo sapiens (human) ]

    Gene ID: 26206, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SPAG8provided by HGNC
    Official Full Name
    sperm associated antigen 8provided by HGNC
    Primary source
    HGNC:HGNC:14105
    See related
    Ensembl:ENSG00000137098 MIM:605731; AllianceGenome:HGNC:14105
    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
    SMP1; BS-84; CT142; HSD-1; SPAG3; CILD28; hSMP-1
    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 encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]
    Expression
    Broad expression in testis (RPKM 10.6), lung (RPKM 2.8) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPAG8 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35807785..35812262, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35828452..35832929, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35807782..35812259, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cAMP responsive element binding protein 3 Neighboring gene glucosylceramidase beta 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19878 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:35752887-35754086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19879 Neighboring gene RGP1 homolog, RAB6A GEF complex partner 1 Neighboring gene microseminoprotein, prostate associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19880 Neighboring gene natriuretic peptide receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35811777-35812333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19882 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene family with sequence similarity 221 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28339

    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. Inhibition of mouse acrosome reaction and sperm-zona pellucida binding by anti-human sperm membrane protein 1 antibody. Cheng GY, et al. Asian J Androl, 2007 Jan. PMID 17187156
    2. Expression and characterization of a novel human sperm membrane protein. Liu QY, et al. Biol Reprod, 1996 Feb. PMID 8788182
    3. Assignment of chromosomal locus and evidence for alternatively spliced mRNAs of a human sperm membrane protein (hSMP-1). Wang H, et al. Biochim Biophys Acta, 1999 Oct 6. PMID 10500252
    4. Immune responses in rats following oral immunization with attenuated Salmonella typhimurium expressing human sperm antigen. Kuang Y, et al. Arch Androl, 2000 Nov-Dec. PMID 11111865
    5. Human sperm membrane protein (hSMP-1): a developmental testis-specific component during germ cell differentiation. Zhang XD, et al. Arch Androl, 2000 Nov-Dec. PMID 11111873

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results indicate that SPAG8 acts as a regulator of ACT and plays an important role in CREM-ACT-mediated gene transcription during spermatogenesis.
      Title: Sperm associated antigen 8 (SPAG8), a novel regulator of activator of CREM in testis during spermatogenesis.
    2. Sperm associated antigen 8 might be involved in the regulation of cell cycle by changing the phosphorylation level of Tyr15 on CDC2 Protein Kinase.
      Title: Regulation of the G2/M phase of the cell cycle by sperm associated antigen 8 (SPAG8) protein.
    3. The antibody of this recombinant protein inhibits the mouse acrosome reaction and prmits mouse sperm-zona pellucida binding.
      Title: Inhibition of mouse acrosome reaction and sperm-zona pellucida binding by anti-human sperm membrane protein 1 antibody.
    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

    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

    • MGC26201

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-associated antigen 8
    Names
    sperm membrane protein 1
    sperm membrane protein BS-84
    testicular tissue protein Li 177

    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_047141.1 RefSeqGene

      Range
      5011..7478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039592.2 → NP_001034681.1  sperm-associated antigen 8 isoform 1

      See identical proteins and their annotated locations for NP_001034681.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) includes an alternate exon in the 3' coding region, compared to variant 2. The resulting protein (isoform 1) is shorter and has a distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AL133410, BI757195, CA314354, U12978
      Consensus CDS
      CCDS43798.1
      UniProtKB/Swiss-Prot
      B4DY89, E9PDV6, Q12937, Q5TCV8, Q8WWB4, Q99932
      UniProtKB/TrEMBL
      A0A140VJV0, H7C4J6
      Related
      ENSP00000379878.2, ENST00000396638.7

    2. NM_001366760.2 → NP_001353689.1  sperm-associated antigen 8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133410, DB250635
      UniProtKB/TrEMBL
      C9JAA8

    3. NM_172312.2 → NP_758516.1  sperm-associated antigen 8 isoform 2

      See identical proteins and their annotated locations for NP_758516.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AL133410
      Consensus CDS
      CCDS6592.1
      UniProtKB/TrEMBL
      H7C4J6
      Related
      ENSP00000340982.2, ENST00000340291.6

    RNA

    1. NR_159431.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL133410, DB250635

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35807785..35812262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447512.2 → XP_024303280.1  sperm-associated antigen 8 isoform X3

      UniProtKB/TrEMBL
      C9JAA8

    2. XM_024447511.2 → XP_024303279.1  sperm-associated antigen 8 isoform X2

      UniProtKB/TrEMBL
      C9JAA8

    3. XM_024447510.2 → XP_024303278.1  sperm-associated antigen 8 isoform X1

      UniProtKB/TrEMBL
      H7C4J6

    4. XM_024447515.2 → XP_024303283.1  sperm-associated antigen 8 isoform X5

    5. XM_024447514.2 → XP_024303282.1  sperm-associated antigen 8 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35828452..35832929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362718.1 → XP_054218693.1  sperm-associated antigen 8 isoform X3

    2. XM_054362717.1 → XP_054218692.1  sperm-associated antigen 8 isoform X2

    3. XM_054362716.1 → XP_054218691.1  sperm-associated antigen 8 isoform X1

    4. XM_054362720.1 → XP_054218695.1  sperm-associated antigen 8 isoform X5

    5. XM_054362719.1 → XP_054218694.1  sperm-associated antigen 8 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_012436.2: Suppressed sequence

      Description
      NM_012436.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99932.3 GenPept UniProtKB/Swiss-Prot:Q99932

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