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FAM53B family with sequence similarity 53 member B [ Homo sapiens (human) ]

Gene ID: 9679, updated on 6-Nov-2022

Summary

Official Symbol
FAM53Bprovided by HGNC
Official Full Name
family with sequence similarity 53 member Bprovided by HGNC
Primary source
HGNC:HGNC:28968
See related
Ensembl:ENSG00000189319 MIM:617289; AllianceGenome:HGNC:28968
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
Also known as
smp; KIAA0140; bA12J10.2
Summary
Involved in positive regulation of canonical Wnt signaling pathway. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 17.7), spleen (RPKM 12.7) and 23 other tissues See more
Orthologs
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Genomic context

See FAM53B in Genome Data Viewer
Location:
10q26.13
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (124619292..124744378, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (125500348..125625386, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126307861..126432947, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8895 Neighboring gene phospholysine phosphohistidine inorganic pyrophosphate phosphatase Neighboring gene ribosomal protein S10 pseudogene 18 Neighboring gene Sharpr-MPRA regulatory regions 4217 and 14470 Neighboring gene Sharpr-MPRA regulatory region 12473 Neighboring gene Sharpr-MPRA regulatory region 1593 Neighboring gene Sharpr-MPRA regulatory region 10105 Neighboring gene FAM53B antisense RNA 1 Neighboring gene EEF1A lysine methyltransferase 2 Neighboring gene abraxas 2, BRISC complex subunit

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13019

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein FAM53B
Names
protein simplet
simplet homolog

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_014661.4NP_055476.3  protein FAM53B

    See identical proteins and their annotated locations for NP_055476.3

    Status: VALIDATED

    Source sequence(s)
    AC068896, AK127343, AL513190, AW504054, BX344666, CA397342, D50930
    Consensus CDS
    CCDS7641.1
    UniProtKB/Swiss-Prot
    Q14153, Q8N5S6
    Related
    ENSP00000338532.3, ENST00000337318.8
    Conserved Domains (1) summary
    pfam15242
    Location:1302
    FAM53; Family of FAM53

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    124619292..124744378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    125500348..125625386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)