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

Gene ID: 140732, updated on 27-Nov-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
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Genomic context

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See SUN5 in Genome Data Viewer
Location:
20q11.21
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32983775..33004433, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34710456..34731124, complement)
RS_2024_09 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. 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
  4. Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China. Sha YW, et al. Gene, 2018 Mar 20. PMID 29331481
  5. Homozygous deletion of SUN5 in three men with decapitated spermatozoa. Elkhatib RA, et al. Hum Mol Genet, 2017 Aug 15. PMID 28541472

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.
    Title: SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
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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)

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 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 head-tail coupling apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm head-tail coupling apparatus 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_2024_08

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

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