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

Gene ID: 6674, updated on 7-Apr-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
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Genomic context

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Location:
8q22.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (100158038..100241904)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101282818..101366675)
105.20220307 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
  • 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. 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
  2. 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
  3. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia. Smith AJ, et al. J Cell Sci, 2022 Mar 15. PMID 35178554, Free PMC Article
  4. Optimizing the First TPR Domain of the Human SPAG1 Protein Provides Insight into the HSP70 and HSP90 Binding Properties. Dermouche S, et al. Biochemistry, 2021 Aug 3. PMID 33739091
  5. Binding properties of the quaternary assembly protein SPAG1. Chagot ME, et al. Biochem J, 2019 Jun 14. PMID 31118266

See all (43) 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
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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_2023_10

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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