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    SPAG17 sperm associated antigen 17 [ Homo sapiens (human) ]

    Gene ID: 200162, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPAG17provided by HGNC
    Official Full Name
    sperm associated antigen 17provided by HGNC
    Primary source
    HGNC:HGNC:26620
    See related
    Ensembl:ENSG00000155761 MIM:616554; AllianceGenome:HGNC:26620
    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
    PF6; CT143; SPGF55
    Summary
    This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
    Expression
    Biased expression in testis (RPKM 9.4), esophagus (RPKM 2.4) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPAG17 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (117953590..118185228, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (117962843..118194535, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (118496213..118727851, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378929 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:118380956-118382155 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:118385371-118386036 Neighboring gene ganglioside induced differentiation associated protein 2 Neighboring gene Sharpr-MPRA regulatory region 13757 Neighboring gene WD repeat domain 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:118546660-118547175 Neighboring gene uncharacterized LOC105378930 Neighboring gene RNA, 5S ribosomal pseudogene 56

    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. Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis. Sapao P, et al. J Invest Dermatol, 2023 Feb. PMID 36116512, Free PMC Article
    2. Strong association of chromosome 1p12 loci with thyroid cancer susceptibility. Baida A, et al. Cancer Epidemiol Biomarkers Prev, 2008 Jun. PMID 18559567
    3. Sperm-associated antigens as targets for cancer immunotherapy: expression pattern and humoral immune response in cancer patients. Siliņa K, et al. J Immunother, 2011 Jan. PMID 21150711
    4. A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing. Xu X, et al. Clin Genet, 2018 Feb. PMID 28548327
    5. Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes. Teves ME, et al. Cytoskeleton (Hoboken), 2016 Jan. PMID 26785425, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.
      Title: Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.
    2. Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.
      Title: Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.
    3. In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady-state of the SPAG17 protein. Therefore, SPAG17 may be a new pathogenic gene causing Asthenozoospermia (AZS) .
      Title: A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.
    4. Homozygous missense mutation in SPAG17 gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy.
      Title: Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Identification of 15 loci influencing height in a Korean population.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.
    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
    Spermatogenic failure 55
    MedGen: C5543580 OMIM: 619380 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
    EBI GWAS Catalog
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    • FLJ34497, FLJ44343, FLJ44353, DKFZp434B0610

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonemal central apparatus assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cilium movement involved in extracellular fluid movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intramanchette transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in manchette assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axonemal central apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in manchette ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-associated antigen 17
    Names
    projection protein PF6 homolog

    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_053041.1 RefSeqGene

      Range
      4998..236636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_206996.4 → NP_996879.1  sperm-associated antigen 17

      See identical proteins and their annotated locations for NP_996879.1

      Status: REVIEWED

      Source sequence(s)
      AL121993, AL513191, AY555274, DB060943, DB340825
      Consensus CDS
      CCDS899.1
      UniProtKB/Swiss-Prot
      Q6Q759, Q8NAZ1, Q9NT21
      Related
      ENSP00000337804.5, ENST00000336338.10
      Conserved Domains (2) summary
      pfam04004
      Location:248 → 346
      Leo1; Leo1-like protein
      pfam14874
      Location:2076 → 2180
      PapD-like; Flagellar-associated PapD-like

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      117953590..118185228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710427.4 → XP_006710490.1  sperm-associated antigen 17 isoform X4

      Conserved Domains (1) summary
      pfam14874
      Location:2011 → 2115
      PapD-like; Flagellar-associated PapD-like

    2. XM_006710426.4 → XP_006710489.1  sperm-associated antigen 17 isoform X2

      Conserved Domains (2) summary
      pfam04004
      Location:248 → 346
      Leo1; Leo1-like protein
      pfam14874
      Location:2038 → 2142
      PapD-like; Flagellar-associated PapD-like

    3. XM_011540934.2 → XP_011539236.1  sperm-associated antigen 17 isoform X3

      Conserved Domains (2) summary
      pfam04004
      Location:248 → 346
      Leo1; Leo1-like protein
      pfam14874
      Location:2032 → 2136
      PapD-like; Flagellar-associated PapD-like

    4. XM_011540935.3 → XP_011539237.1  sperm-associated antigen 17 isoform X5

      Conserved Domains (2) summary
      pfam04004
      Location:135 → 233
      Leo1; Leo1-like protein
      pfam14874
      Location:1963 → 2067
      PapD-like; Flagellar-associated PapD-like

    5. XM_011540937.3 → XP_011539239.1  sperm-associated antigen 17 isoform X6

      See identical proteins and their annotated locations for XP_011539239.1

      Conserved Domains (1) summary
      pfam14874
      Location:1526 → 1630
      PapD-like; Flagellar-associated PapD-like

    6. XM_047448734.1 → XP_047304690.1  sperm-associated antigen 17 isoform X6

    7. XM_011540936.3 → XP_011539238.1  sperm-associated antigen 17 isoform X6

      See identical proteins and their annotated locations for XP_011539238.1

      Conserved Domains (1) summary
      pfam14874
      Location:1526 → 1630
      PapD-like; Flagellar-associated PapD-like

    8. XM_047448753.1 → XP_047304709.1  sperm-associated antigen 17 isoform X8

    9. XM_006710428.4 → XP_006710491.1  sperm-associated antigen 17 isoform X7

      See identical proteins and their annotated locations for XP_006710491.1

      Conserved Domains (1) summary
      pfam14874
      Location:1349 → 1453
      PapD-like; Flagellar-associated PapD-like

    10. XM_011540942.3 → XP_011539244.1  sperm-associated antigen 17 isoform X8

      See identical proteins and their annotated locations for XP_011539244.1

      Conserved Domains (1) summary
      pfam14874
      Location:1315 → 1419
      PapD-like; Flagellar-associated PapD-like

    11. XM_011540939.3 → XP_011539241.1  sperm-associated antigen 17 isoform X7

      See identical proteins and their annotated locations for XP_011539241.1

      Conserved Domains (1) summary
      pfam14874
      Location:1349 → 1453
      PapD-like; Flagellar-associated PapD-like

    12. XM_047448758.1 → XP_047304714.1  sperm-associated antigen 17 isoform X9

      UniProtKB/TrEMBL
      B3KWZ6

    13. XM_047448722.1 → XP_047304678.1  sperm-associated antigen 17 isoform X1

      UniProtKB/Swiss-Prot
      Q6Q759, Q8NAZ1, Q9NT21

    RNA

    1. XR_946574.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      117962843..118194535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334958.1 → XP_054190933.1  sperm-associated antigen 17 isoform X4

    2. XM_054334956.1 → XP_054190931.1  sperm-associated antigen 17 isoform X2

    3. XM_054334957.1 → XP_054190932.1  sperm-associated antigen 17 isoform X3

    4. XM_054334959.1 → XP_054190934.1  sperm-associated antigen 17 isoform X5

    5. XM_054334962.1 → XP_054190937.1  sperm-associated antigen 17 isoform X6

    6. XM_054334961.1 → XP_054190936.1  sperm-associated antigen 17 isoform X6

    7. XM_054334960.1 → XP_054190935.1  sperm-associated antigen 17 isoform X6

    8. XM_054334965.1 → XP_054190940.1  sperm-associated antigen 17 isoform X8

    9. XM_054334964.1 → XP_054190939.1  sperm-associated antigen 17 isoform X7

    10. XM_054334966.1 → XP_054190941.1  sperm-associated antigen 17 isoform X8

    11. XM_054334963.1 → XP_054190938.1  sperm-associated antigen 17 isoform X7

    12. XM_054334967.1 → XP_054190942.1  sperm-associated antigen 17 isoform X9

      UniProtKB/TrEMBL
      B3KWZ6

    13. XM_054334955.1 → XP_054190930.1  sperm-associated antigen 17 isoform X1

    RNA

    1. XR_008485959.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6Q759.1 GenPept UniProtKB/Swiss-Prot:Q6Q759

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