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    MSS51 MSS51 mitochondrial translational activator [ Homo sapiens (human) ]

    Gene ID: 118490, updated on 9-Dec-2024

    Summary

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    Official Symbol
    MSS51provided by HGNC
    Official Full Name
    MSS51 mitochondrial translational activatorprovided by HGNC
    Primary source
    HGNC:HGNC:21000
    See related
    Ensembl:ENSG00000166343 MIM:614773; AllianceGenome:HGNC:21000
    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
    ZMYND17
    Summary
    Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart (RPKM 4.1), skin (RPKM 1.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MSS51 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73423579..73433561, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74294994..74304976, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75183337..75193319, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene annexin A7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:75165474-75165974 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75170289-75170496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2483 Neighboring gene ribosomal protein L26 pseudogene 6 Neighboring gene protein phosphatase 3 catalytic subunit beta Neighboring gene MPRA-validated peak1010 silencer Neighboring gene MPRA-validated peak1011 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3564 Neighboring gene PPP3CB antisense RNA 1 (head to head) Neighboring gene ubiquitin specific peptidase 54 Neighboring gene RNA, U6 small nuclear 883, pseudogene

    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. Yeast Translational Activator Mss51p and Human ZMYND17 - Two Proteins with a Common Origin, but Different Functions. Baleva MV, et al. Biochemistry (Mosc), 2021 Sep. PMID 34565318
    2. YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients. Jiao YY, et al. Mol Cell Endocrinol, 2024 Oct 1. PMID 38830447
    3. ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes at chromosome 10q22 associated with the subgroup of schizophrenia with deficits in attention and executive function. Liu CM, et al. Biol Psychiatry, 2011 Jul 1. PMID 21531385
    4. Dual functions of Mss51 couple synthesis of Cox1 to assembly of cytochrome c oxidase in Saccharomyces cerevisiae mitochondria. Perez-Martinez X, et al. Mol Biol Cell, 2009 Oct. PMID 19710419, Free PMC Article
    5. Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation. Ansseau E, et al. PLoS One, 2016. PMID 26816005, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients.
      Title: YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients.
    2. Yeast Translational Activator Mss51p and Human ZMYND17 - Two Proteins with a Common Origin, but Different Functions.
      Title: Yeast Translational Activator Mss51p and Human ZMYND17 - Two Proteins with a Common Origin, but Different Functions.
    3. ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function.
      Title: ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes at chromosome 10q22 associated with the subgroup of schizophrenia with deficits in attention and executive function.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    • FLJ39565

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    putative protein MSS51 homolog, mitochondrial
    Names
    MSS51 mitochondrial translational activator homolog
    zinc finger MYND domain-containing protein 17
    zinc finger, MYND domain containing 17
    zinc finger, MYND-type containing 17

    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_001024593.2 → NP_001019764.1  putative protein MSS51 homolog, mitochondrial

      See identical proteins and their annotated locations for NP_001019764.1

      Status: VALIDATED

      Source sequence(s)
      BC094693, BX500736, CN395159
      Consensus CDS
      CCDS31221.1
      UniProtKB/Swiss-Prot
      A6NGH6, Q2VP95, Q4VC12, Q5F2H5, Q7Z3M9, Q8N8G0
      Related
      ENSP00000299432.2, ENST00000299432.7
      Conserved Domains (1) summary
      pfam01753
      Location:105 → 149
      zf-MYND; MYND finger

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73423579..73433561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424550.1 → XP_047280506.1  putative protein MSS51 homolog, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NGH6, Q2VP95, Q4VC12, Q5F2H5, Q7Z3M9, Q8N8G0
      Related
      ENSP00000362003.1, ENST00000372912.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74294994..74304976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178451.2: Suppressed sequence

      Description
      NM_178451.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4VC12.2 GenPept UniProtKB/Swiss-Prot:Q4VC12

    Gene LinkOut

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

    Other Literature Sources
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