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

Gene ID: 4678, updated on 10-Dec-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
  • 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)

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

    UniProtKB/TrEMBL
    Q53H03

  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

    UniProtKB/TrEMBL
    Q53H03

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

    UniProtKB/TrEMBL
    Q53H03

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

    UniProtKB/TrEMBL
    Q5T624

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

    UniProtKB/TrEMBL
    Q53H03

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

    UniProtKB/TrEMBL
    Q5T624

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

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