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    FAM81A family with sequence similarity 81 member A [ Homo sapiens (human) ]

    Gene ID: 145773, updated on 9-Dec-2024

    Summary

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    Official Symbol
    FAM81Aprovided by HGNC
    Official Full Name
    family with sequence similarity 81 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:28379
    See related
    Ensembl:ENSG00000157470 AllianceGenome:HGNC:28379
    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
    Summary
    Predicted to enable molecular condensate scaffold activity. Predicted to be located in postsynaptic density. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 9.6), kidney (RPKM 2.3) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM81A in Genome Data Viewer
    Location:
    15q22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (59397981..59523555)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (57199987..57325275)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (59730385..59815754)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene myosin IE Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59645915-59646434 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59646435-59646955 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59646956-59647475 Neighboring gene RNA, U6 small nuclear 212, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59652703-59653204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59653205-59653704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59657838-59658422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59658423-59659005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6488 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59664350-59664853 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59664854-59665358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59672263-59672764 Neighboring gene uncharacterized LOC124903597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9491 Neighboring gene Sharpr-MPRA regulatory region 1182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9493 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:59721031-59721227 Neighboring gene ribosomal protein L7a pseudogene 75 Neighboring gene NSA2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9497 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:59826686-59827885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6491 Neighboring gene ribosomal protein L21 pseudogene 114 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:59835403-59836602 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:59840860-59841630 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:59841631-59842401 Neighboring gene ribosomal protein L21 pseudogene 117

    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. FAM81A identified as a stemness-related gene by screening DNA methylation sites based on machine learning-accessed stemness in pancreatic cancer. Zhang Q, et al. Epigenomics, 2022 May. PMID 35574683
    2. FAM81A protein, a novel component of the postsynaptic density in adult brain. Dosemeci A, et al. Neurosci Lett, 2019 Apr 23. PMID 30735723, Free PMC Article
    3. FAM81A is a postsynaptic protein that regulates the condensation of postsynaptic proteins via liquid-liquid phase separation. Kaizuka T, et al. PLoS Biol, 2024 Mar. PMID 38452102, Free PMC Article
    4. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Kapoor M, et al. Drug Alcohol Depend, 2014 Sep 1. PMID 24962325, Free PMC Article
    5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM81A identified as a stemness-related gene by screening DNA methylation sites based on machine learning-accessed stemness in pancreatic cancer.
      Title: FAM81A identified as a stemness-related gene by screening DNA methylation sites based on machine learning-accessed stemness in pancreatic cancer.
    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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
    EBI GWAS Catalog

    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

    • MGC26690

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular condensate scaffold activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in postsynaptic density, intracellular component IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM81A

    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_152450.3 → NP_689663.2  protein FAM81A

      See identical proteins and their annotated locations for NP_689663.2

      Status: VALIDATED

      Source sequence(s)
      AC091748, AC092754, BC022537
      Consensus CDS
      CCDS45269.1
      UniProtKB/Swiss-Prot
      Q8TBF8
      Related
      ENSP00000288228.5, ENST00000288228.10
      Conserved Domains (1) summary
      COG1196
      Location:79 → 334
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      59397981..59523555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432171.1 → XP_047288127.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    2. XM_047432170.1 → XP_047288126.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    3. XM_011521248.3 → XP_011519550.1  protein FAM81A isoform X1

      See identical proteins and their annotated locations for XP_011519550.1

      Conserved Domains (1) summary
      COG1196
      Location:88 → 343
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. XM_024449846.2 → XP_024305614.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8
      Conserved Domains (1) summary
      COG1196
      Location:79 → 334
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    5. XM_006720398.4 → XP_006720461.1  protein FAM81A isoform X2

      See identical proteins and their annotated locations for XP_006720461.1

      UniProtKB/Swiss-Prot
      Q8TBF8
      Conserved Domains (1) summary
      COG1196
      Location:79 → 334
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    6. XM_011521247.3 → XP_011519549.1  protein FAM81A isoform X1

      See identical proteins and their annotated locations for XP_011519549.1

      Conserved Domains (1) summary
      COG1196
      Location:88 → 343
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    7. XM_011521250.3 → XP_011519552.1  protein FAM81A isoform X2

      See identical proteins and their annotated locations for XP_011519552.1

      UniProtKB/Swiss-Prot
      Q8TBF8
      Conserved Domains (1) summary
      COG1196
      Location:79 → 334
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    8. XM_047432168.1 → XP_047288124.1  protein FAM81A isoform X1

    9. XM_011521249.3 → XP_011519551.1  protein FAM81A isoform X2

      See identical proteins and their annotated locations for XP_011519551.1

      UniProtKB/Swiss-Prot
      Q8TBF8
      Conserved Domains (1) summary
      COG1196
      Location:79 → 334
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    10. XM_047432169.1 → XP_047288125.1  protein FAM81A isoform X1

    11. XM_005254166.3 → XP_005254223.1  protein FAM81A isoform X1

      See identical proteins and their annotated locations for XP_005254223.1

      Conserved Domains (1) summary
      COG1196
      Location:88 → 343
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    12. XM_017021932.2 → XP_016877421.1  protein FAM81A isoform X1

      Conserved Domains (1) summary
      COG1196
      Location:88 → 343
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    13. XM_017021931.2 → XP_016877420.1  protein FAM81A isoform X1

      Conserved Domains (1) summary
      COG1196
      Location:88 → 343
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      57199987..57325275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377330.1 → XP_054233305.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    2. XM_054377327.1 → XP_054233302.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    3. XM_054377325.1 → XP_054233300.1  protein FAM81A isoform X1

    4. XM_054377326.1 → XP_054233301.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    5. XM_054377319.1 → XP_054233294.1  protein FAM81A isoform X1

    6. XM_054377328.1 → XP_054233303.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    7. XM_054377320.1 → XP_054233295.1  protein FAM81A isoform X1

    8. XM_054377329.1 → XP_054233304.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    9. XM_054377323.1 → XP_054233298.1  protein FAM81A isoform X1

    10. XM_054377321.1 → XP_054233296.1  protein FAM81A isoform X1

    11. XM_054377331.1 → XP_054233306.1  protein FAM81A isoform X2

      UniProtKB/Swiss-Prot
      Q8TBF8

    12. XM_054377324.1 → XP_054233299.1  protein FAM81A isoform X1

    13. XM_054377322.1 → XP_054233297.1  protein FAM81A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBF8.3 GenPept UniProtKB/Swiss-Prot:Q8TBF8

    Gene LinkOut

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

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