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

Gene ID: 171482, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (8790795..8801383, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (8357896..8368484, complement)
105.20220307 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
  • 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 (14) 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_2023_10

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

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