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    FAM9A family with sequence similarity 9 member A [ Homo sapiens (human) ]

    Gene ID: 171482, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FAM9Aprovided by HGNC
    Official Full Name
    family with sequence similarity 9 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:18403
    See related
    Ensembl:ENSG00000183304 MIM:300477; AllianceGenome:HGNC:18403
    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
    TEX39A
    Summary
    This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]
    Expression
    Restricted expression toward testis (RPKM 1.9) See more
    Orthologs
    all
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    Genomic context

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    See FAM9A in Genome Data Viewer
    Location:
    Xp22.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (8790795..8801383, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (8357896..8368484, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (8758836..8769424, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene anosmin 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:8600996-8601504 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:8611361-8612172 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:8618651-8619175 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:8656224-8657196 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:8657197-8658169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:8667852-8668352 Neighboring gene NANOG hESC enhancer GRCh37_chrX:8671941-8672658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:8689521-8690068 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:8694042-8695034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:8696584-8697084 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:8725279-8726478 Neighboring gene dorsal inhibitory axon guidance protein pseudogene 1 Neighboring gene ANAPC15 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 3114

    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. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region. Martinez-Garay I, et al. Genomics, 2002 Sep. PMID 12213195
    2. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    3. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    4. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    5. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expressed exclusively in testis; protein is located in the nucleus, and localizes to the nucleolus.
      Title: A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.
    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)

    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

    • MGC138227, MGC142009

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in meiotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synaptonemal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM9A
    Names
    testis expressed 39A

    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.

    Genomic

    1. NG_016564.2 RefSeqGene

      Range
      5001..15589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171186.1 → NP_001164657.1  protein FAM9A

      See identical proteins and their annotated locations for NP_001164657.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript (1). Both variant 1 and 2 encode the same protein.
      Source sequence(s)
      AC003685, BC143805
      Consensus CDS
      CCDS14131.1
      UniProtKB/Swiss-Prot
      B7ZLH5, Q2M2D1, Q8IZU1
      Related
      ENSP00000440163.1, ENST00000543214.1
      Conserved Domains (1) summary
      pfam04803
      Location:277 → 332
      Cor1; Cor1/Xlr/Xmr conserved region

    2. NM_174951.3 → NP_777611.1  protein FAM9A

      See identical proteins and their annotated locations for NP_777611.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC003685, AF494343
      Consensus CDS
      CCDS14131.1
      UniProtKB/Swiss-Prot
      B7ZLH5, Q2M2D1, Q8IZU1
      Related
      ENSP00000370391.3, ENST00000381003.7
      Conserved Domains (1) summary
      pfam04803
      Location:277 → 332
      Cor1; Cor1/Xlr/Xmr conserved region

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      8790795..8801383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      8357896..8368484 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZU1.1 GenPept UniProtKB/Swiss-Prot:Q8IZU1

    Gene LinkOut

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

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