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    SPATC1 spermatogenesis and centriole associated 1 [ Homo sapiens (human) ]

    Gene ID: 375686, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SPATC1provided by HGNC
    Official Full Name
    spermatogenesis and centriole associated 1provided by HGNC
    Primary source
    HGNC:HGNC:30510
    See related
    Ensembl:ENSG00000186583 MIM:610874; AllianceGenome:HGNC:30510
    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
    SPATA15
    Summary
    Predicted to enable gamma-tubulin binding activity. Located in centrosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 4.1), bone marrow (RPKM 1.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATC1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144010977..144047114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145171177..145207964)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145086448..145102015)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene plectin Neighboring gene uncharacterized LOC124902040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145020877-145021664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145021665-145022452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145024027-145024814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145031501-145032404 Neighboring gene microRNA 661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145038963-145039740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145039741-145040518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145040519-145041295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145046021-145046870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145046871-145047718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19643 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145050844-145051005 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145051354-145051848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145060401-145061304 Neighboring gene poly(ADP-ribose) polymerase family member 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19648 Neighboring gene Sharpr-MPRA regulatory region 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145065969-145066470 Neighboring gene glutamate ionotropic receptor NMDA type subunit associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19651 Neighboring gene NANOG hESC enhancer GRCh37_chr8:145092262-145092784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145103171-145104068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19652 Neighboring gene uncharacterized LOC124902039 Neighboring gene sphingomyelin phosphodiesterase 5 (pseudogene) Neighboring gene 5-oxoprolinase, ATP-hydrolysing

    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. Speriolin is a novel human and mouse sperm centrosome protein. Goto M, et al. Hum Reprod, 2010 Aug. PMID 20542897, Free PMC Article
    2. Speriolin is a novel spermatogenic cell-specific centrosomal protein associated with the seventh WD motif of Cdc20. Goto M, et al. J Biol Chem, 2004 Oct 1. PMID 15280373
    3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    4. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) 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

    • MGC61633

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    speriolin
    Names
    spermatogenesis and centriole-associated protein 1
    spermatogenesis-associated protein 15
    spermatogenic cell-specific Cdc20-binding protein
    testicular tissue protein Li 181

    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_001134374.2 → NP_001127846.1  speriolin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region and differs in the 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC206437, AK301710, BC053547, DB052198
      Consensus CDS
      CCDS47937.1
      UniProtKB/TrEMBL
      A0A140VJV4
      Related
      ENSP00000387613.2, ENST00000447830.2
      Conserved Domains (1) summary
      pfam15058
      Location:1 → 228
      Speriolin_N; Speriolin N terminus

    2. NM_198572.3 → NP_940974.2  speriolin isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB092352, AC206437, BC053547, DB052198
      Consensus CDS
      CCDS6413.2
      UniProtKB/Swiss-Prot
      B4DWW9, Q5U5I8, Q76KD6, Q7Z6L7
      Related
      ENSP00000366690.3, ENST00000377470.8
      Conserved Domains (2) summary
      pfam15058
      Location:1 → 228
      Speriolin_N; Speriolin N terminus
      pfam15059
      Location:445 → 591
      Speriolin_C; Speriolin C-terminus

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144010977..144047114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517022.3 → XP_011515324.1  speriolin isoform X2

      Conserved Domains (2) summary
      pfam15058
      Location:42 → 222
      Speriolin_N; Speriolin N terminus
      pfam15059
      Location:439 → 620
      Speriolin_C; Speriolin C-terminus

    2. XM_011517021.2 → XP_011515323.1  speriolin isoform X1

      Conserved Domains (2) summary
      pfam15058
      Location:1 → 228
      Speriolin_N; Speriolin N terminus
      pfam15059
      Location:445 → 626
      Speriolin_C; Speriolin C-terminus

    3. XM_011517025.3 → XP_011515327.1  speriolin isoform X3

      Conserved Domains (2) summary
      pfam15058
      Location:1 → 137
      Speriolin_N; Speriolin N terminus
      pfam15059
      Location:354 → 535
      Speriolin_C; Speriolin C-terminus

    4. XM_011517024.4 → XP_011515326.1  speriolin isoform X3

      Conserved Domains (2) summary
      pfam15058
      Location:1 → 137
      Speriolin_N; Speriolin N terminus
      pfam15059
      Location:354 → 535
      Speriolin_C; Speriolin C-terminus

    RNA

    1. XR_928329.2 RNA Sequence

    2. XR_928328.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145171177..145207964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360441.1 → XP_054216416.1  speriolin isoform X2

    2. XM_054360440.1 → XP_054216415.1  speriolin isoform X1

    3. XM_054360443.1 → XP_054216418.1  speriolin isoform X3

    4. XM_054360442.1 → XP_054216417.1  speriolin isoform X3

    RNA

    1. XR_008487846.1 RNA Sequence

    2. XR_008487845.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q76KD6.2 GenPept UniProtKB/Swiss-Prot:Q76KD6

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