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

Gene ID: 375686, updated on 17-Sep-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, Apr 2022]
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 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. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

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

    See identical proteins and their annotated locations for NP_001127846.1

    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

    See identical proteins and their annotated locations for NP_940974.2

    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

    See identical proteins and their annotated locations for XP_011515327.1

    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

    See identical proteins and their annotated locations for XP_011515326.1

    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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