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    SPATA19 spermatogenesis associated 19 [ Homo sapiens (human) ]

    Gene ID: 219938, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPATA19provided by HGNC
    Official Full Name
    spermatogenesis associated 19provided by HGNC
    Primary source
    HGNC:HGNC:30614
    See related
    Ensembl:ENSG00000166118 MIM:609805; AllianceGenome:HGNC:30614
    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
    CT132; SPAS1; spergen1
    Summary
    Predicted to be involved in sperm mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 27.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATA19 in Genome Data Viewer
    Location:
    11q25
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (133835930..133845513, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (133878224..133887807, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (133710526..133715408, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene opioid binding protein/cell adhesion molecule like Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:133367412-133367912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:133367913-133368413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133378571-133379070 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:133380000-133380899 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133411065-133411636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133415514-133416432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133424165-133424756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133424757-133425347 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:133440092-133441291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133498537-133499043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133499044-133499549 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133511071-133511692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133590113-133591005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133600941-133601440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133616212-133617180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133657715-133658245 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:133672578-133673777 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:133678028-133678694 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133678695-133679361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133679362-133680028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:133712096-133712638 Neighboring gene long intergenic non-protein coding RNA 2743 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:133724195-133725394 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133764343-133765238 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:133765239-133766134 Neighboring gene calponin 2 pseudogene Neighboring gene microRNA 4697 Neighboring gene immunoglobulin superfamily member 9B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cancer/testis antigen SPATA19 is frequently expressed in benign prostatic hyperplasia and prostate cancer. Wong KK, et al. APMIS, 2017 Dec. PMID 28972294
    2. Spata19 is critical for sperm mitochondrial function and male fertility. Mi Y, et al. Mol Reprod Dev, 2015 Nov. PMID 26265198
    3. Expression of two testis-specific genes, SPATA19 and LEMD1, in prostate cancer. Ghafouri-Fard S, et al. Arch Med Res, 2010 Apr. PMID 20682177
    4. Cloning and characterization of a mouse spergen-1 localized in sperm mitochondria. Matsuoka Y, et al. Int J Androl, 2004 Jun. PMID 15139970
    5. Isolation and expression analysis of the human testis-specific gene, SPERGEN-1, a spermatogenic cell-specific gene-1. Miyamoto T, et al. J Assist Reprod Genet, 2003 Feb. PMID 12688595, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigated SPATA19 protein expression patterns in a panel of non-malignant samples and primary prostate cancer with or without benign prostatic hyperplasia tissues. SPATA19 was absent in all non-malignant tissues investigated (n=14) except testis and prostate tissues.
      Title: Cancer/testis antigen SPATA19 is frequently expressed in benign prostatic hyperplasia and prostate cancer.
    2. Of the prostate cancer samples, 10, 10, 23 and 40% showed ODF1, ODF2, LEMD1 and SPATA19 specific bands, respectively, but none of the BPH samples expressed any of these genes.
      Title: Expression of two testis-specific genes, SPATA19 and LEMD1, in prostate cancer.
    3. The SPATA19 and TEX101 genes may be possible targets for cancer immunotherapy and novel markers for early detection of basal cell carcinoma.
      Title: Elevated expression levels of testis-specific genes TEX101 and SPATA19 in basal cell carcinoma and their correlation with clinical and pathological features.
    Submit: New GeneRIF Correction

    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

    • FLJ25851

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm midpiece IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm midpiece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 19, mitochondrial
    Names
    cancer/testis antigen 132
    spergen-1
    spermatogenic cell-specific gene 1 protein
    spermatogenic specific-gene1
    testis secretory sperm-binding protein Li 243mP

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001291992.2 → NP_001278921.1  spermatogenesis-associated protein 19, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001278921.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK098717, AP001979, BX096445
      Consensus CDS
      CCDS8493.1
      UniProtKB/Swiss-Prot
      Q7Z5L4, Q8N7A9
      UniProtKB/TrEMBL
      A0A140VKB6
      Related
      ENSP00000435248.1, ENST00000532889.1
      Conserved Domains (1) summary
      pfam15212
      Location:25 → 167
      SPATA19; Spermatogenesis-associated protein 19, mitochondrial

    2. NM_174927.3 → NP_777587.1  spermatogenesis-associated protein 19, mitochondrial precursor

      See identical proteins and their annotated locations for NP_777587.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP001979, BC058039, BX096445
      Consensus CDS
      CCDS8493.1
      UniProtKB/Swiss-Prot
      Q7Z5L4, Q8N7A9
      UniProtKB/TrEMBL
      A0A140VKB6
      Related
      ENSP00000299140.3, ENST00000299140.8
      Conserved Domains (1) summary
      pfam15212
      Location:25 → 167
      SPATA19; Spermatogenesis-associated protein 19, mitochondrial

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      133835930..133845513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_947807.2 RNA Sequence

    2. XR_947806.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      133878224..133887807 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488362.1 RNA Sequence

    2. XR_008488361.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5L4.2 GenPept UniProtKB/Swiss-Prot:Q7Z5L4

    Gene LinkOut

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

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