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

Gene ID: 26206, updated on 14-Nov-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
  • 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)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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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