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    NASP nuclear autoantigenic sperm protein [ Homo sapiens (human) ]

    Gene ID: 4678, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NASPprovided by HGNC
    Official Full Name
    nuclear autoantigenic sperm proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7644
    See related
    Ensembl:ENSG00000132780 MIM:603185; AllianceGenome:HGNC:7644
    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
    HMDRA1; FLB7527; PRO1999
    Summary
    This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 44.0), bone marrow (RPKM 30.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NASP in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45584041..45618893)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45456407..45491244)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46049713..46084565)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46003942-46004442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46004443-46004943 Neighboring gene high mobility group box 1 pseudogene 48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46021723-46022469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46022470-46023215 Neighboring gene aldo-keto reductase family 1 member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054000-46054500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054501-46055001 Neighboring gene MPRA-validated peak199 silencer Neighboring gene coiled-coil domain containing 17 Neighboring gene GC-rich promoter binding protein 1 like 1 Neighboring gene ribosomal protein S15a pseudogene 10

    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 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. NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways. Zhang S, et al. J Med Genet, 2024 Jun 20. PMID 38443156
    2. Sequence and localization of human NASP: conservation of a Xenopus histone-binding protein. O'Rand MG, et al. Dev Biol, 1992 Nov. PMID 1426632
    3. Characterization of a sperm-specific nuclear autoantigenic protein. II. Expression and localization in the testis. Welch JE, et al. Biol Reprod, 1990 Oct. PMID 2289011
    4. Ultrastructural localization of a nuclear autoantigenic sperm protein in spermatogenic cells and spermatozoa. Lee YH, et al. Anat Rec, 1993 Jul. PMID 8363049
    5. Histone-binding domains in a human nuclear autoantigenic sperm protein. Batova I, et al. Biol Reprod, 1996 Jun. PMID 8724350

    See all (174) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways.
      Title: NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways.
    2. Nuclear autoantigenic sperm protein facilitates glioblastoma progression and radioresistance by regulating the ANXA2/STAT3 axis.
      Title: Nuclear autoantigenic sperm protein facilitates glioblastoma progression and radioresistance by regulating the ANXA2/STAT3 axis.
    3. Home Dust Mites Promote MUC5AC Hyper-Expression by Modulating the sNASP/TRAF6 Axis in the Airway Epithelium.
      Title: Home Dust Mites Promote MUC5AC Hyper-Expression by Modulating the sNASP/TRAF6 Axis in the Airway Epithelium.
    4. Knockdown of long noncoding RNA colorectal neoplasia differentially expressed inhibits hepatocellular carcinoma progression by mediating the expression of nuclear autoantigenic sperm protein.
      Title: Knockdown of long noncoding RNA colorectal neoplasia differentially expressed inhibits hepatocellular carcinoma progression by mediating the expression of nuclear autoantigenic sperm protein.
    5. UBR7 acts as a histone chaperone for post-nucleosomal histone H3.
      Title: UBR7 acts as a histone chaperone for post-nucleosomal histone H3.
    6. miR-381-3p targeted and suppressed NASP gene, reduced the viability, migration, invasion, EMT of HNSCC cells, demonstrating that miR-381-3p has the potential to be a therapeutic target in inhibiting the progression of HNSCC
      Title: MiR-381-3p suppresses biological characteristics of cancer in head-neck squamous cell carcinoma cells by targeting nuclear autoantigenic sperm protein (NASP).
    7. Results found that NASP expression levels were upregulated in liver tumors. Its down-regulation inhibited liver cells from forming tumors. Also, NASP depletion led to a global decrease of histone H3K9me1 modification associated with newly H3 processing, which occurred directly at the promoters of up-regulated anti-tumor genes BACH2 and RunX1T1.
      Title: NASP antagonize chromatin accessibility through maintaining histone H3K9me1 in hepatocellular carcinoma.
    8. NASP is targeted by miR-29c in gastric cancer cells. miR-29c can decrease NASP expression and the effects observed following miR-29c overexpression are partially due to NASP depletion.
      Title: microRNA-29c inhibits cell proliferation by targeting NASP in human gastric cancer.
    9. findings reveal a new mode of interaction between a TPR repeat domain of histone chaperone sNASP and an evolutionarily conserved peptide motif found in canonical H3 and in all histone H3 variants
      Title: The histone chaperone sNASP binds a conserved peptide motif within the globular core of histone H3 through its TPR repeats.
    10. Our research demonstrates that knockdown of tNASP effectively inhibits the proliferation and causes G1 phase arrest through ERK/MAPK signal pathway.
      Title: Downregulation of tNASP inhibits proliferation through regulating cell cycle-related proteins and inactive ERK/MAPK signal pathway in renal cell carcinoma cells.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of nuclear autoantigenic sperm protein (NASP) in Jurkat cells PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human nuclear autoantigenic sperm protein (histone-binding) (NASP) at amino acid residues 676-677 and 759-760 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2297, FLJ31599, FLJ35510, MGC19722, MGC20372, DKFZp547F162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CENP-A containing chromatin assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication-dependent chromatin assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within DNA replication-dependent chromatin assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in DNA replication-dependent chromatin assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in blastocyst development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nuclear autoantigenic sperm protein
    Names
    NASP histone chaperone
    histone H1-binding protein
    nuclear autoantigenic sperm protein (histone-binding)

    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_029224.1 RefSeqGene

      Range
      5054..39906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195193.2 → NP_001182122.1  nuclear autoantigenic sperm protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region, compared to variant 2. This results in a shorter protein (isoform 4), compared to isoform 2.
      Source sequence(s)
      AK291637, AK298893, BC010105, CK300084, DC361634
      Consensus CDS
      CCDS55597.1
      UniProtKB/TrEMBL
      B4DS57
      Related
      ENSP00000438871.1, ENST00000537798.5
      Conserved Domains (4) summary
      sd00006
      Location:478 → 506
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:520 → 552
      TPR_1; Tetratricopeptide repeat
      pfam10516
      Location:478 → 515
      SHNi-TPR; SHNi-TPR
      pfam13424
      Location:475 → 552
      TPR_12; Tetratricopeptide repeat

    2. NM_002482.4 → NP_002473.2  nuclear autoantigenic sperm protein isoform 2

      See identical proteins and their annotated locations for NP_002473.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AK291637, BC010105, CK300084, DC361634
      Consensus CDS
      CCDS524.1
      UniProtKB/Swiss-Prot
      A8K6H2, B4DQP3, D3DQ07, F5H3J2, P49321, Q53GW5, Q5T622, Q5T625, Q96A69, Q9BTW2
      UniProtKB/TrEMBL
      Q53H03
      Related
      ENSP00000255120.5, ENST00000350030.8
      Conserved Domains (4) summary
      sd00006
      Location:542 → 570
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:584 → 616
      TPR_1; Tetratricopeptide repeat
      pfam10516
      Location:542 → 579
      SHNi-TPR; SHNi-TPR
      pfam13424
      Location:539 → 616
      TPR_12; Tetratricopeptide repeat

    3. NM_152298.4 → NP_689511.2  nuclear autoantigenic sperm protein isoform 3

      See identical proteins and their annotated locations for NP_689511.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 2. This results in a shorter protein (isoform 3), compared to isoform 2.
      Source sequence(s)
      AK291637, BC053608, CK300084, DC361634
      Consensus CDS
      CCDS525.1
      UniProtKB/TrEMBL
      Q5T624, Q5T626
      Related
      ENSP00000255121.4, ENST00000351223.7
      Conserved Domains (4) summary
      sd00006
      Location:203 → 231
      TPR; TPR repeat [structural motif]
      pfam10516
      Location:203 → 240
      SHNi-TPR; SHNi-TPR
      pfam13424
      Location:201 → 277
      TPR_12; Tetratricopeptide repeat
      cl25732
      Location:138 → 340
      SMC_N; RecF/RecN/SMC N terminal domain

    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
      45584041..45618893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270888.4 → XP_005270945.1  nuclear autoantigenic sperm protein isoform X1

      See identical proteins and their annotated locations for XP_005270945.1

      UniProtKB/TrEMBL
      Q53H03
      Conserved Domains (4) summary
      TIGR00927
      Location:218 → 518
      2A1904; K+-dependent Na+/Ca+ exchanger
      sd00006
      Location:544 → 572
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:542 → 618
      TPR_12; Tetratricopeptide repeat
      pfam10516
      Location:544 → 581
      SHNi-TPR

    2. XM_011541509.3 → XP_011539811.1  nuclear autoantigenic sperm protein isoform X2

      UniProtKB/TrEMBL
      Q53H03
      Conserved Domains (4) summary
      TIGR00927
      Location:218 → 518
      2A1904; K+-dependent Na+/Ca+ exchanger
      sd00006
      Location:544 → 572
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:542 → 618
      TPR_12; Tetratricopeptide repeat
      pfam10516
      Location:544 → 581
      SHNi-TPR

    3. XM_005270889.4 → XP_005270946.1  nuclear autoantigenic sperm protein isoform X4

      See identical proteins and their annotated locations for XP_005270946.1

      UniProtKB/TrEMBL
      Q5T624
      Conserved Domains (4) summary
      sd00006
      Location:205 → 233
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:247 → 279
      TPR_1; Tetratricopeptide repeat
      pfam10516
      Location:205 → 242
      SHNi-TPR; SHNi-TPR
      pfam13424
      Location:202 → 279
      TPR_12; Tetratricopeptide repeat

    4. XM_047421212.1 → XP_047277168.1  nuclear autoantigenic sperm protein isoform X3

    5. XM_017001356.3 → XP_016856845.1  nuclear autoantigenic sperm protein isoform X5

      UniProtKB/TrEMBL
      Q5T624

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      45456407..45491244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336746.1 → XP_054192721.1  nuclear autoantigenic sperm protein isoform X1

    2. XM_054336747.1 → XP_054192722.1  nuclear autoantigenic sperm protein isoform X2

    3. XM_054336749.1 → XP_054192724.1  nuclear autoantigenic sperm protein isoform X4

    4. XM_054336748.1 → XP_054192723.1  nuclear autoantigenic sperm protein isoform X3

    5. XM_054336750.1 → XP_054192725.1  nuclear autoantigenic sperm protein isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172164.1: Suppressed sequence

      Description
      NM_172164.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49321.2 GenPept UniProtKB/Swiss-Prot:P49321

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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