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

Gene ID: 85002, updated on 3-Apr-2024

Summary

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Official Symbol
FAM86B1provided by HGNC
Official Full Name
family with sequence similarity 86 member B1provided 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 methyltransferase activity. Predicted to be involved in methylation. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
8p23.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12182106..12194937, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7540464..7552404)
105.20220307 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 (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: 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. 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. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) 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)

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

  • 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
  
involved_in peptidyl-lysine trimethylation IBA
Inferred from Biological aspect of Ancestor
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
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_2023_10

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

    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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