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

Gene ID: 153643, updated on 2-Nov-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, Nov 2024]
Expression
Restricted expression toward testis (RPKM 29.2) See more
Orthologs
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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: HPA RNA-seq normal tissues 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. 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)

Genotypes

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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