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    CAB39L calcium binding protein 39 like [ Homo sapiens (human) ]

    Gene ID: 81617, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CAB39Lprovided by HGNC
    Official Full Name
    calcium binding protein 39 likeprovided by HGNC
    Primary source
    HGNC:HGNC:20290
    See related
    Ensembl:ENSG00000102547 MIM:612175; AllianceGenome:HGNC:20290
    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
    MO2L; MLAA-34; MO25-BETA; bA103J18.3
    Summary
    Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytosol. Predicted to be part of cytoplasm and serine/threonine protein kinase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in prostate (RPKM 17.8), adrenal (RPKM 15.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAB39L in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49308650..49444064, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (48529853..48662696, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (49882786..50018200, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370203 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:49821922-49822484 Neighboring gene cytidine and dCMP deaminase domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 13963 Neighboring gene Sharpr-MPRA regulatory region 6847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:49880333-49880832 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49888093-49889292 Neighboring gene NANOG hESC enhancer GRCh37_chr13:49961302-49961803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50018017-50018789 Neighboring gene SETDB2-PHF11 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50018790-50019563 Neighboring gene SET domain bifurcated histone lysine methyltransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50068895-50069580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7749 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 14 Neighboring gene PHD finger protein 11

    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. Leukemia-associated gene MLAA-34 reduces arsenic trioxide-induced apoptosis in HeLa cells via activation of the Wnt/β-catenin signaling pathway. Zhang P, et al. PLoS One, 2017. PMID 29059232, Free PMC Article
    2. The expression and functional characterization associated with cell apoptosis and proteomic analysis of the novel gene MLAA-34 in U937 cells. Zhang WJ, et al. Oncol Rep, 2013 Feb. PMID 23135622
    3. Quantitative assessment of MLAA-34 expression in diagnosis and prognosis of acute monocytic leukemia. Zhao J, et al. Cancer Immunol Immunother, 2011 Apr. PMID 21240483, Free PMC Article
    4. Frameshift Mutations of CAB39L, an Activator of LKB1 Tumor Suppressor, in Gastric and Colorectal Cancers. Choi MR, et al. Pathol Oncol Res, 2016 Jan. PMID 26306467
    5. Identification and functional characterization of the novel acute monocytic leukemia associated antigen MLAA-34. Zhang PY, et al. Cancer Immunol Immunother, 2009 Feb. PMID 18592235, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of LPAR6 and CAB39L dysregulates the basal-to-luminal urothelial differentiation program, contributing to bladder carcinogenesis.
      Title: Loss of LPAR6 and CAB39L dysregulates the basal-to-luminal urothelial differentiation program, contributing to bladder carcinogenesis.
    2. Bioinformatics Prediction and Experimental Verification Identify CAB39L as a Diagnostic and Prognostic Biomarker of Kidney Renal Clear Cell Carcinoma.
      Title: Bioinformatics Prediction and Experimental Verification Identify CAB39L as a Diagnostic and Prognostic Biomarker of Kidney Renal Clear Cell Carcinoma.
    3. Identification of HLA-A*0201-restricted CTL Epitopes for MLAA-34-specific Immunotherapy for Acute Monocytic Leukemia.
      Title: Identification of HLA-A*0201-restricted CTL Epitopes for MLAA-34-specific Immunotherapy for Acute Monocytic Leukemia.
    4. Targeted silencing of genes related to acute monocytic leukaemia by CpG(B)-MLAA-34 siRNA conjugates.
      Title: Targeted silencing of genes related to acute monocytic leukaemia by CpG(B)-MLAA-34 siRNA conjugates.
    5. minimal active region of MLAA-34 located between 402 bp and 200 bp
      Title: [Cloning of New Antigen Gene MLAA-34 Promoter and Identification of Core Region in Acute Monocytic Leukemia].
    6. Our data demonstrate that CAB39L is a novel tumor suppressor in gastric cancer
      Title: CAB39L elicited an anti-Warburg effect via a LKB1-AMPK-PGC1α axis to inhibit gastric tumorigenesis.
    7. Frameshift Mutations of CAB39L are associated with Gastric and Colorectal Cancers.
      Title: Frameshift Mutations of CAB39L, an Activator of LKB1 Tumor Suppressor, in Gastric and Colorectal Cancers.
    8. In conclusion, our current results provide new evidence that MLAA-34 may be a novel anti-apoptotic factor in vitro, and the data presented here show a strong correlation between anti-apoptosis with the upregulation of MLAA-34.
      Title: The expression and functional characterization associated with cell apoptosis and proteomic analysis of the novel gene MLAA-34 in U937 cells.
    9. our data indicate that MLAA-34 may be used as a prognostic marker for treatment decision-making in acute monocytic leukemia
      Title: Quantitative assessment of MLAA-34 expression in diagnosis and prognosis of acute monocytic leukemia.
    10. 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 See all GeneRIFs (11)

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12577

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of serine/threonine protein kinase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    calcium-binding protein 39-like
    Names
    MO25beta
    U937-associated antigen
    antigen MLAA-34
    mo25-like protein
    sarcoma antigen NY-SAR-79

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001079670.3 → NP_001073138.1  calcium-binding protein 39-like

      See identical proteins and their annotated locations for NP_001073138.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a 5' non-coding exon compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL138875, AW134845, BC010993, BX647518, DB051338
      Consensus CDS
      CCDS9416.2
      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4
      UniProtKB/TrEMBL
      Q5TAW7
      Related
      ENSP00000386375.1, ENST00000409308.6
      Conserved Domains (1) summary
      pfam08569
      Location:6 → 333
      Mo25; Mo25-like

    2. NM_001287337.2 → NP_001274266.1  calcium-binding protein 39-like

      See identical proteins and their annotated locations for NP_001274266.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL138875, AW134845, AY211923, AY288977, BX647518, DB051338
      Consensus CDS
      CCDS9416.2
      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4
      UniProtKB/TrEMBL
      Q5TAW7
      Related
      ENSP00000386328.1, ENST00000410043.5
      Conserved Domains (1) summary
      pfam08569
      Location:6 → 333
      Mo25; Mo25-like

    3. NM_001287338.2 → NP_001274267.1  calcium-binding protein 39-like

      See identical proteins and their annotated locations for NP_001274267.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains 3 alternate 5' non-coding exons compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL138875, AW134845, AY211923, BX647518, DB033467, DB457246, HY043965
      Consensus CDS
      CCDS9416.2
      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4
      UniProtKB/TrEMBL
      Q5TAW7
      Related
      ENSP00000479669.1, ENST00000610540.4
      Conserved Domains (1) summary
      pfam08569
      Location:6 → 333
      Mo25; Mo25-like

    4. NM_001287339.2 → NP_001274268.1  calcium-binding protein 39-like

      See identical proteins and their annotated locations for NP_001274268.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks couple of exons, and contains two alternate exons in the 5' non-coding region compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL138875, AW134845, AY211923, BX647518, DB457246
      Consensus CDS
      CCDS9416.2
      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4
      UniProtKB/TrEMBL
      Q5TAW7
      Related
      ENSP00000261669.7, ENST00000347776.9
      Conserved Domains (1) summary
      pfam08569
      Location:6 → 333
      Mo25; Mo25-like

    5. NM_030925.4 → NP_112187.2  calcium-binding protein 39-like

      See identical proteins and their annotated locations for NP_112187.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks several exons, and contains an alternate exon in the 5' non-coding region compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL136218, AL138875, AW134845, AY211923, BC010993, BX647518, DB279812
      Consensus CDS
      CCDS9416.2
      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4
      UniProtKB/TrEMBL
      Q5TAW7
      Related
      ENSP00000348113.4, ENST00000355854.8
      Conserved Domains (1) summary
      pfam08569
      Location:6 → 333
      Mo25; Mo25-like

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      49308650..49444064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430698.1 → XP_047286654.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    2. XM_047430696.1 → XP_047286652.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    3. XM_047430697.1 → XP_047286653.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    4. XM_047430695.1 → XP_047286651.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    5. XM_047430694.1 → XP_047286650.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    6. XM_047430699.1 → XP_047286655.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    7. XM_047430693.1 → XP_047286649.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      48529853..48662696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375061.1 → XP_054231036.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    2. XM_054375059.1 → XP_054231034.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    3. XM_054375058.1 → XP_054231033.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4

    4. XM_054375060.1 → XP_054231035.1  calcium-binding protein 39-like isoform X1

      UniProtKB/Swiss-Prot
      Q5TAW6, Q6WG71, Q96FG1, Q9BZ33, Q9H9S4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9S4.3 GenPept UniProtKB/Swiss-Prot:Q9H9S4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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