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    FAM86B1 family with sequence similarity 86 member B1 (gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 85002, updated on 27-Dec-2024

    Summary

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    Official Symbol
    FAM86B1provided by HGNC
    Official Full Name
    family with sequence similarity 86 member B1 (gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:28268
    See related
    Ensembl:ENSG00000186523 MIM:616122; AllianceGenome:HGNC:28268
    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 protein-lysine N-methyltransferase activity. Predicted to be involved in regulation of translation. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.6), ovary (RPKM 3.6) and 25 other tissues See more
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    Genomic context

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    See FAM86B1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12182106..12194937, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7540464..7552404)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12039615..12051642, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 66 member D Neighboring gene defensin beta 109D (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12037424-12037936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12037937-12038447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12038587-12039088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12039089-12039588 Neighboring gene family with sequence similarity 90 member A2, pseudogene Neighboring gene ALG1 like 11, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12052743-12053312 Neighboring gene family with sequence similarity 85 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12070506-12071007 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 12 Neighboring gene defensin beta 131D (pseudogene)

    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. Diagnostic value of rectal mucosal acetylcholinesterase levels in Hirschsprung's disease. Dale G, et al. Lancet, 1979 Feb 17. PMID 85002
    2. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. Cloutier P, et al. PLoS Genet, 2013. PMID 23349634, Free PMC Article
    3. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Viard J, et al. Life Sci Alliance, 2022 Aug 1. PMID 35914814, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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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    Markers

    Clone Names

    • MGC16279, MGC104828

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of protein-containing complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative protein N-methyltransferase FAM86B1
    Names
    family with sequence similarity 86, member B1
    protein FAM86B1

    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_001083537.4 → NP_001077006.1  putative protein N-methyltransferase FAM86B1

      See identical proteins and their annotated locations for NP_001077006.1

      Status: VALIDATED

      Source sequence(s)
      AC145124
      Consensus CDS
      CCDS59512.1
      UniProtKB/Swiss-Prot
      Q8N7N1
      Related
      ENSP00000407067.2, ENST00000448228.7
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 80
      FAM86; Family of unknown function
      cl17173
      Location:101 → 252
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RNA

    1. NR_003494.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC145124
      Related
      ENST00000340537.9

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      12182106..12194937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447314.2 → XP_024303082.1  putative protein N-methyltransferase FAM86B1 isoform X7

      Conserved Domains (1) summary
      cl17173
      Location:84 → 211
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    2. XM_047422358.1 → XP_047278314.1  putative protein N-methyltransferase FAM86B1 isoform X4

    3. XM_017013918.3 → XP_016869407.1  putative protein N-methyltransferase FAM86B1 isoform X6

    4. XM_006716260.5 → XP_006716323.1  putative protein N-methyltransferase FAM86B1 isoform X8

      Conserved Domains (1) summary
      cl17173
      Location:74 → 225
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    5. XM_017013917.3 → XP_016869406.1  putative protein N-methyltransferase FAM86B1 isoform X5

    6. XM_006716257.5 → XP_006716320.1  putative protein N-methyltransferase FAM86B1 isoform X2

      Conserved Domains (2) summary
      pfam14904
      Location:6 → 70
      FAM86; Family of unknown function
      cl17173
      Location:108 → 259
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    7. XM_047422359.1 → XP_047278315.1  putative protein N-methyltransferase FAM86B1 isoform X4

    8. XM_017013916.3 → XP_016869405.1  putative protein N-methyltransferase FAM86B1 isoform X3

    9. XM_006716256.5 → XP_006716319.1  putative protein N-methyltransferase FAM86B1 isoform X1

      UniProtKB/TrEMBL
      E9PN63
      Related
      ENSP00000432931.1, ENST00000533852.7
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 97
      FAM86; Family of unknown function
      cl17173
      Location:135 → 286
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    10. XM_024447315.2 → XP_024303083.1  putative protein N-methyltransferase FAM86B1 isoform X10

      Conserved Domains (1) summary
      cl17173
      Location:47 → 174
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    11. XM_011543843.4 → XP_011542145.1  putative protein N-methyltransferase FAM86B1 isoform X9

      Conserved Domains (1) summary
      cl17173
      Location:35 → 186
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    12. XM_047422356.1 → XP_047278312.1  putative protein N-methyltransferase FAM86B1 isoform X4

    13. XM_011543842.4 → XP_011542144.1  putative protein N-methyltransferase FAM86B1 isoform X7

      Conserved Domains (1) summary
      cl17173
      Location:84 → 211
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    14. XM_047422362.1 → XP_047278318.1  putative protein N-methyltransferase FAM86B1 isoform X12

    15. XM_047422354.1 → XP_047278310.1  putative protein N-methyltransferase FAM86B1 isoform X4

    16. XM_024447313.2 → XP_024303081.1  putative protein N-methyltransferase FAM86B1 isoform X7

      Conserved Domains (1) summary
      cl17173
      Location:84 → 211
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    17. XM_047422355.1 → XP_047278311.1  putative protein N-methyltransferase FAM86B1 isoform X4

    18. XM_047422357.1 → XP_047278313.1  putative protein N-methyltransferase FAM86B1 isoform X4

    19. XM_047422361.1 → XP_047278317.1  putative protein N-methyltransferase FAM86B1 isoform X11

      UniProtKB/TrEMBL
      E9PQV7
      Related
      ENSP00000431362.1, ENST00000534520.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      7540464..7552404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7N1.2 GenPept UniProtKB/Swiss-Prot:Q8N7N1

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