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    SPATA1 spermatogenesis associated 1 [ Homo sapiens (human) ]

    Gene ID: 100505741, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SPATA1provided by HGNC
    Official Full Name
    spermatogenesis associated 1provided by HGNC
    Primary source
    HGNC:HGNC:14682
    See related
    Ensembl:ENSG00000122432 AllianceGenome:HGNC:14682
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SP-2; SPAP1
    Summary
    Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon (RPKM 6.0), testis (RPKM 4.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATA1 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84506386..84567379)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84346767..84407753)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84972069..85033062)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5400 Neighboring gene deoxyribonuclease 2 beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1250 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:84944610-84945170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1252 Neighboring gene ribosome production factor 1 homolog Neighboring gene NANOG hESC enhancer GRCh37_chr1:84969365-84969870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1020 Neighboring gene G protein subunit gamma 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1255 Neighboring gene chitobiase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1021 Neighboring gene uncharacterized LOC105378819 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:85044029-85044228 Neighboring gene long intergenic non-protein coding RNA 1461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1023

    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. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • MGC157666

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 1
    Names
    sperm-specific protein SP-2

    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.

    mRNA and Protein(s)

    1. NM_001310156.2 → NP_001297085.2  spermatogenesis-associated protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL359762
      Conserved Domains (1) summary
      pfam15743
      Location:279 → 428
      SPATA1_C; Spermatogenesis-associated C-terminus

    2. NM_001397487.1 → NP_001384416.1  spermatogenesis-associated protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL359762
      Consensus CDS
      CCDS90993.1
      UniProtKB/TrEMBL
      A0A8V8TNU4
      Related
      ENSP00000514414.1, ENST00000699524.1

    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
      84506386..84567379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542514.3 → XP_011540816.1  spermatogenesis-associated protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011540816.1

      Conserved Domains (1) summary
      pfam15743
      Location:297 → 408
      SPATA1_C; Spermatogenesis-associated C-terminus

    2. XM_024446289.2 → XP_024302057.1  spermatogenesis-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A1W2PQB0, A0PJU9, Q0VDJ9, Q0VDK0, Q5VX52, Q6P386, Q9HAR4
      Related
      ENST00000490879.9
      Conserved Domains (1) summary
      pfam15743
      Location:301 → 450
      SPATA1_C; Spermatogenesis-associated C-terminus

    3. XM_011542517.2 → XP_011540819.1  spermatogenesis-associated protein 1 isoform X4

      See identical proteins and their annotated locations for XP_011540819.1

      UniProtKB/TrEMBL
      A0A8V8TPQ3

    4. XM_011542516.2 → XP_011540818.1  spermatogenesis-associated protein 1 isoform X4

      See identical proteins and their annotated locations for XP_011540818.1

      UniProtKB/TrEMBL
      A0A8V8TPQ3

    5. XM_047416131.1 → XP_047272087.1  spermatogenesis-associated protein 1 isoform X6

    6. XM_047416077.1 → XP_047272033.1  spermatogenesis-associated protein 1 isoform X4

    7. XM_047416194.1 → XP_047272150.1  spermatogenesis-associated protein 1 isoform X7

    8. XM_011542519.3 → XP_011540821.1  spermatogenesis-associated protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011540821.1

    9. XM_011542515.3 → XP_011540817.1  spermatogenesis-associated protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011540817.1

    10. XM_011542522.3 → XP_011540824.1  spermatogenesis-associated protein 1 isoform X8

      See identical proteins and their annotated locations for XP_011540824.1

      UniProtKB/TrEMBL
      A0A8V8TPQ3
      Related
      ENSP00000514413.1, ENST00000697276.1

    RNA

    1. XR_007057962.1 RNA Sequence

    2. XR_007057965.1 RNA Sequence

    3. XR_007057967.1 RNA Sequence

    4. XR_947545.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      84346767..84407753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333693.1 → XP_054189668.1  spermatogenesis-associated protein 1 isoform X2

    2. XM_054333692.1 → XP_054189667.1  spermatogenesis-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A1W2PQB0, A0PJU9, Q0VDJ9, Q0VDK0, Q5VX52, Q6P386, Q9HAR4

    3. XM_054333697.1 → XP_054189672.1  spermatogenesis-associated protein 1 isoform X4

    4. XM_054333695.1 → XP_054189670.1  spermatogenesis-associated protein 1 isoform X4

    5. XM_054333699.1 → XP_054189674.1  spermatogenesis-associated protein 1 isoform X6

    6. XM_054333696.1 → XP_054189671.1  spermatogenesis-associated protein 1 isoform X4

    7. XM_054333700.1 → XP_054189675.1  spermatogenesis-associated protein 1 isoform X7

    8. XM_054333698.1 → XP_054189673.1  spermatogenesis-associated protein 1 isoform X5

    9. XM_054333694.1 → XP_054189669.1  spermatogenesis-associated protein 1 isoform X3

    10. XM_054333701.1 → XP_054189676.1  spermatogenesis-associated protein 1 isoform X8

    RNA

    1. XR_008485857.1 RNA Sequence

    2. XR_008485858.1 RNA Sequence

    3. XR_008485859.1 RNA Sequence

    4. XR_008485860.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001081472.1: Suppressed sequence

      Description
      NM_001081472.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_022354.1: Suppressed sequence

      Description
      NM_022354.1: 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
    Q5VX52.4 GenPept UniProtKB/Swiss-Prot:Q5VX52

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