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    SUN5 Sad1 and UNC84 domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 140732, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SUN5provided by HGNC
    Official Full Name
    Sad1 and UNC84 domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:16252
    See related
    Ensembl:ENSG00000167098 MIM:613942; AllianceGenome:HGNC:16252
    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
    SPAG4L; SPGF16; TSARG4; dJ726C3.1
    Summary
    The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]
    Expression
    Restricted expression toward testis (RPKM 7.9) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32983775..33004433, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34710456..34731124, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31571581..31592239, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31446596-31447408 Neighboring gene EF-hand calcium binding domain 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31462588-31463558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31463559-31464528 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60089 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31467763-31467940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31474801-31475642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31479663-31480402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31480940-31481452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481453-31481964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481965-31482476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31482477-31482988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31494551-31495051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31505783-31506299 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31538047-31538855 Neighboring gene uncharacterized LOC124904887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31557307-31558259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31558260-31559211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31559855-31560362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31560363-31560871 Neighboring gene VISTA enhancer hs2101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31588518-31589018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31589019-31589519 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31594895-31595890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31595891-31596885 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31601764-31602328 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31602329-31602894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31605961-31606556 Neighboring gene BPI fold containing family B member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31629439-31629940 Neighboring gene BPI fold containing family B member 6

    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. Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome. Xiang M, et al. Reprod Sci, 2022 Feb. PMID 34159570
    2. Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa. Cazin C, et al. Int J Mol Sci, 2021 Feb 22. PMID 33671757, Free PMC Article
    3. Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China. Sha YW, et al. Gene, 2018 Mar 20. PMID 29331481
    4. Homozygous deletion of SUN5 in three men with decapitated spermatozoa. Elkhatib RA, et al. Hum Mol Genet, 2017 Aug 15. PMID 28541472
    5. Bypassing natural sperm selection during fertilization: the azh mutant offspring experience and the alternative of spermiogenesis in vitro. Kierszenbaum AL, et al. Mol Cell Endocrinol, 2002 Feb 22. PMID 11988320

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.
      Title: Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.
    2. Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa.
      Title: Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa.
    3. Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.
      Title: Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.
    4. A new SUN5 mutation (c.475C-->T; p.Arg159*) impair its interaction with DNAJB13.
      Title: Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.
    5. The contribution of SUN5 mutations to acephalic spermatozoa might not be as high as described previously.
      Title: Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China.
    6. Results, together with those of the previous study, show that SUN5 is required for the formation of the sperm head-tail junction and male fertility.
      Title: Homozygous deletion of SUN5 in three men with decapitated spermatozoa.
    7. results demonstrate that biallelic SUN5 mutations cause male infertility due to autosomal-recessive acephalic spermatozoa syndrome
      Title: Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.
    8. SPAG4L may play an important role in the meiotic stage of spermatogenesis
      Title: SPAG4L, a novel nuclear envelope protein involved in the meiotic stage of spermatogenesis.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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 16
    MedGen: C4310674 OMIM: 617187 GeneReviews: Not available
    		Compare labs

    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

    • MGC33594

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-membrane adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of meiotic nuclear membrane microtubule tethering complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm connecting piece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm connecting piece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    SUN domain-containing protein 5
    Names
    epididymis secretory sperm binding protein
    sad1 and UNC84 domain-containing protein 5
    sperm-associated antigen 4-like protein
    testis and spermatogenesis related gene 4
    testis and spermatogenesis-related gene 4 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_054760.1 RefSeqGene

      Range
      5017..25675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_080675.4 → NP_542406.2  SUN domain-containing protein 5

      See identical proteins and their annotated locations for NP_542406.2

      Status: REVIEWED

      Source sequence(s)
      BC026118
      Consensus CDS
      CCDS13209.1
      UniProtKB/Swiss-Prot
      A6NJ82, Q5T9R0, Q8TC36
      UniProtKB/TrEMBL
      A0A384MDU5
      Related
      ENSP00000348496.3, ENST00000356173.8
      Conserved Domains (1) summary
      pfam07738
      Location:231 → 363
      Sad1_UNC; Sad1 / UNC-like C-terminal

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32983775..33004433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528574.2 → XP_011526876.1  SUN domain-containing protein 5 isoform X2

      UniProtKB/TrEMBL
      A9Z1W8
      Related
      ENSP00000364673.3, ENST00000375523.7
      Conserved Domains (1) summary
      pfam07738
      Location:206 → 338
      Sad1_UNC; Sad1 / UNC-like C-terminal

    2. XM_011528573.2 → XP_011526875.1  SUN domain-containing protein 5 isoform X1

      Conserved Domains (1) summary
      pfam07738
      Location:254 → 386
      Sad1_UNC; Sad1 / UNC-like C-terminal

    3. XM_011528575.2 → XP_011526877.1  SUN domain-containing protein 5 isoform X3

      Conserved Domains (1) summary
      pfam07738
      Location:141 → 273
      Sad1_UNC; Sad1 / UNC-like C-terminal

    4. XM_011528576.2 → XP_011526878.1  SUN domain-containing protein 5 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34710456..34731124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323016.1 → XP_054178991.1  SUN domain-containing protein 5 isoform X2

      UniProtKB/TrEMBL
      A9Z1W8

    2. XM_054323015.1 → XP_054178990.1  SUN domain-containing protein 5 isoform X1

    3. XM_054323017.1 → XP_054178992.1  SUN domain-containing protein 5 isoform X3

    4. XM_054323018.1 → XP_054178993.1  SUN domain-containing protein 5 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC36.1 GenPept UniProtKB/Swiss-Prot:Q8TC36

    Gene LinkOut

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