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

Gene ID: 145773, updated on 13-Mar-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
Expression
Biased expression in brain (RPKM 9.6), kidney (RPKM 2.3) and 7 other tissues See more
Orthologs
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Genomic context

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Location:
15q22.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (59397981..59523555)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (57199987..57325275)
105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr15:59652703-59653204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59653205-59653704 Neighboring gene RNA, U6 small nuclear 212, pseudogene 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 ATAC-STARR-seq lymphoblastoid silent region 6490 Neighboring gene NSA2 pseudogene 4 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 MED14-independent group 3 enhancer GRCh37_chr15:59835403-59836602 Neighboring gene ribosomal protein L21 pseudogene 114 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 Neighboring gene glucosaminyl (N-acetyl) transferase 3, mucin type

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. 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
  4. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312
  5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article

See all (12) 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)

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

  • MGC26690

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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, 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_2023_10

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

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