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    FAM81B family with sequence similarity 81 member B [ Homo sapiens (human) ]

    Gene ID: 153643, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM81Bprovided by HGNC
    Official Full Name
    family with sequence similarity 81 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26335
    See related
    Ensembl:ENSG00000153347 AllianceGenome:HGNC:26335
    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
    Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 29.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM81B in Genome Data Viewer
    Location:
    5q15
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95391366..95450441)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (95885697..95951364)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94727070..94786145)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene multiple C2 and transmembrane domain containing 1 Neighboring gene uncharacterized LOC105379085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16181 Neighboring gene uncharacterized LOC105379089 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:94728230-94729087 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:94775487-94776419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:94821776-94822394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:94822395-94823011 Neighboring gene RTRAF pseudogene 2 Neighboring gene SKI3 subunit of superkiller complex Neighboring gene RNA, U6 small nuclear 308, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:94926949-94928148 Neighboring gene arylsulfatase family member K

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142
    2. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
    3. An inter-species protein-protein interaction network across vast evolutionary distance. Zhong Q, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107014, Free PMC Article
    4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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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    Homology

    Clone Names

    • FLJ25333

    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 nucleus HDA PubMed 

    General protein information

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    Preferred Names
    protein FAM81B

    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_152548.3 → NP_689761.2  protein FAM81B

      Status: VALIDATED

      Source sequence(s)
      AC090071, AK058062, BC034772, BM560335
      Consensus CDS
      CCDS43341.1
      UniProtKB/Swiss-Prot
      Q96LP2
      Related
      ENSP00000283357.5, ENST00000283357.10
      Conserved Domains (1) summary
      COG1196
      Location:145 → 452
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      95391366..95450441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543207.2 → XP_011541509.1  protein FAM81B isoform X1

    2. XM_047416821.1 → XP_047272777.1  protein FAM81B isoform X2

    3. XM_047416822.1 → XP_047272778.1  protein FAM81B isoform X4

    4. XM_011543209.2 → XP_011541511.1  protein FAM81B isoform X3

      Conserved Domains (1) summary
      COG1196
      Location:64 → 356
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    5. XM_011543210.3 → XP_011541512.1  protein FAM81B isoform X5

      See identical proteins and their annotated locations for XP_011541512.1

      Conserved Domains (1) summary
      PRK12704
      Location:151 → 258
      PRK12704; phosphodiesterase; Provisional

    6. XM_047416823.1 → XP_047272779.1  protein FAM81B isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      95885697..95951364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351818.1 → XP_054207793.1  protein FAM81B isoform X7

    2. XM_054351816.1 → XP_054207791.1  protein FAM81B isoform X1

    3. XM_054351817.1 → XP_054207792.1  protein FAM81B isoform X2

    4. XM_054351820.1 → XP_054207795.1  protein FAM81B isoform X4

    5. XM_054351819.1 → XP_054207794.1  protein FAM81B isoform X3

    6. XM_054351821.1 → XP_054207796.1  protein FAM81B isoform X5

    7. XM_054351822.1 → XP_054207797.1  protein FAM81B isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LP2.4 GenPept UniProtKB/Swiss-Prot:Q96LP2

    Gene LinkOut

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

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