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

Gene ID: 9679, updated on 13-Mar-2020

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
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
Expression
Ubiquitous expression in lymph node (RPKM 17.7), spleen (RPKM 12.7) and 23 other tissues See more
Orthologs

Genomic context

See FAM53B in Genome Data Viewer
Location:
10q26.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (124619292..124744378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126307861..126432930, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NK1 homeobox 2 Neighboring gene phospholysine phosphohistidine inorganic pyrophosphate phosphatase Neighboring gene ribosomal protein S10 pseudogene 18 Neighboring gene uncharacterized LOC105378539 Neighboring gene Sharpr-MPRA regulatory regions 4217 and 14470 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 Neighboring gene uncharacterized LOC107984160

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

NHGRI GWAS Catalog

Description
Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    Related
    ENSP00000338532.3, ENST00000337318.8
    Conserved Domains (1) summary
    pfam15242
    Location:1302
    FAM53; Family of FAM53

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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