CTNNAL1 catenin alpha like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTNNAL1provided by HGNC
Official Full Name: catenin alpha like 1provided by HGNC
Primary source: HGNC:HGNC:2512
See related: Ensembl:ENSG00000119326 MIM:604785; AllianceGenome:HGNC:2512
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: ACRP; CLLP; alpha-CATU
Summary: Predicted to enable actin filament binding activity and cadherin binding activity. Acts upstream of or within Rho protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in adrenal (RPKM 101.6), ovary (RPKM 57.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (108942577..109013499, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (121111650..121182574, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (111704857..111775779, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
Title: CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
alpha-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer.
Title: α-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer.
Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.
Title: Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.
CTNNAL1 may play a role in airway EMT by repressing the expression of Twist1 mRNA and reducing the level of TGF-beta1.
Title: CTNNAL1 inhibits ozone-induced epithelial-mesenchymal transition in human bronchial epithelial cells.
These data indicated that upregulated expression of alpha-catulin protein might have impact on the tumorigenesis of head and neck squamous cell carcinoma
Title: The upregulated α-catulin expression was involved in head-neck squamous cell carcinogenesis by promoting proliferation, migration, invasion, and epithelial to mesenchymal transition.
Alpha-catulin contributes to drug-resistance of melanoma by activating NF-kappaB and AP-1
Title: Alpha-catulin contributes to drug-resistance of melanoma by activating NF-κB and AP-1.
these results strongly indicate that alpha-catulin contributes to the invasive behavior of metastatic cells and may be used as a prognostic marker and future therapeutic target for patients with cancer.
Title: α-Catulin marks the invasion front of squamous cell carcinoma and is important for tumor cell metastasis.
our study shows that alpha-catulin plays a critical role in cancer metastasis
Title: α-Catulin drives metastasis by activating ILK and driving an αvβ3 integrin signaling axis.
findings show that alpha-catulin is highly expressed in melanoma cells; expression of alpha-catulin promoted melanoma progression and occurred concomitantly with the downregulation of E-cadherin and the upregulation of expression of mesenchymal genes
Title: α-Catulin downregulates E-cadherin and promotes melanoma progression and invasion.
a robust transcriptional CTNNAL1 up-regulation occurs during acute ozone-induced stress and is mediated at least in part by ozone-induced recruitments of LEF-1 and AP-2alpha to the human CTNNAL1 promoter
Title: Identification of transcription factors regulating CTNNAL1 expression in human bronchial epithelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W44423 (e-PCR)
- UniSTS:16916

G63459 (e-PCR)
- UniSTS:140571

SGC38315 (e-PCR)
- UniSTS:39532

RH102038 (e-PCR)
- UniSTS:96372

A004G45 (e-PCR)
- UniSTS:11470

G29131 (e-PCR)
- UniSTS:14315

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-catulin

Names: alpha-catenin-related protein; alpha2-catulin; catenin (cadherin-associated protein), alpha-like 1; catenin alpha-like protein 1

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)

NM_001286974.2 → NP_001273903.1 alpha-catulin isoform b

See identical proteins and their annotated locations for NP_001273903.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, which results in an alternate 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AF135021, AI148526, AK022926

Consensus CDS

CCDS69638.1

UniProtKB/TrEMBL

B3KMX6

Related

ENSP00000363723.4, ENST00000374595.8

Conserved Domains (1) summary

pfam01044
Location:92 → 675

Vinculin; Vinculin family
NM_003798.4 → NP_003789.1 alpha-catulin isoform a

See identical proteins and their annotated locations for NP_003789.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).

Source sequence(s)

AF030233, AK022926

Consensus CDS

CCDS6775.1

UniProtKB/Swiss-Prot

B5BU47, O76084, Q53FQ2, Q5JTQ7, Q5JTQ8, Q9UBT7, Q9Y401

UniProtKB/TrEMBL

B3KMX6

Related

ENSP00000320434.4, ENST00000325551.9

Conserved Domains (1) summary

pfam01044
Location:92 → 675

Vinculin; Vinculin family

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

108942577..109013499 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017015250.3 → XP_016870739.1 alpha-catulin isoform X2
XM_005252291.5 → XP_005252348.1 alpha-catulin isoform X1

UniProtKB/TrEMBL

B3KMX6

Conserved Domains (1) summary

pfam01044
Location:92 → 675

Vinculin; Vinculin family