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CTNNBL1 catenin beta like 1 [ Homo sapiens (human) ]

Gene ID: 56259, updated on 16-Oct-2021

Summary

Official Symbol
CTNNBL1provided by HGNC
Official Full Name
catenin beta like 1provided by HGNC
Primary source
HGNC:HGNC:15879
See related
Ensembl:ENSG00000132792 MIM:611537
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAP; P14L; PP8304; C20orf33; dJ633O20.1
Summary
The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in spleen (RPKM 24.9), testis (RPKM 22.5) and 25 other tissues See more
Orthologs
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Genomic context

See CTNNBL1 in Genome Data Viewer
Location:
20q11.23
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (37694030..37872124)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36322432..36500520)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100287792 Neighboring gene uncharacterized LOC105372609 Neighboring gene V-set and transmembrane domain containing 2 like Neighboring gene RN7SK pseudogene 185

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21108

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in somatic diversification of immunoglobulins IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of Prp19 complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of spliceosomal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
beta-catenin-like protein 1
Names
nuclear associated protein
testis development protein NYD-SP19

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_001281495.2NP_001268424.1  beta-catenin-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001268424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA469176, AK293420, DC358260
    Consensus CDS
    CCDS63269.1
    UniProtKB/Swiss-Prot
    Q8WYA6
    Related
    ENSP00000487198.1, ENST00000628103.2
    Conserved Domains (1) summary
    pfam08216
    Location:30135
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear
  2. NM_030877.5NP_110517.2  beta-catenin-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_110517.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF239607, DC358260
    Consensus CDS
    CCDS13298.1
    UniProtKB/Swiss-Prot
    Q8WYA6
    Related
    ENSP00000355050.6, ENST00000361383.11
    Conserved Domains (1) summary
    pfam08216
    Location:57162
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    37694030..37872124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451947.1XP_024307715.1  beta-catenin-like protein 1 isoform X1

    Conserved Domains (1) summary
    pfam08216
    Location:30135
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear
  2. XM_011528917.2XP_011527219.1  beta-catenin-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011527219.1

    UniProtKB/Swiss-Prot
    Q8WYA6
    Related
    ENSP00000362572.1, ENST00000373473.5
    Conserved Domains (1) summary
    pfam08216
    Location:152
    CTNNBL; Catenin-beta-like, Arm-motif containing nuclear
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