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    ANXA6 annexin A6 [ Homo sapiens (human) ]

    Gene ID: 309, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ANXA6provided by HGNC
    Official Full Name
    annexin A6provided by HGNC
    Primary source
    HGNC:HGNC:544
    See related
    Ensembl:ENSG00000197043 MIM:114070; AllianceGenome:HGNC:544
    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
    p68; p70; ANX6; CBP68; CPB-II
    Summary
    Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in fat (RPKM 141.9), appendix (RPKM 77.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANXA6 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151100706..151157779, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151637192..151694982, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150480267..150537340, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:150401597-150402796 Neighboring gene glutathione peroxidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23429 Neighboring gene TNFAIP3 interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150435866-150436392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150445954-150446696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150446697-150447439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150460705-150461415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23435 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:150473600-150474799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150503406-150503906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23443 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:150537501-150538357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23444 Neighboring gene uncharacterized LOC107986463 Neighboring gene platelet derived growth factor receptor like 2, pseudogene Neighboring gene coiled-coil domain containing 69 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23445 Neighboring gene uncharacterized LOC105378230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16521

    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. Annexin A6-balanced late endosomal cholesterol controls influenza A replication and propagation. Musiol A, et al. mBio, 2013 Nov 5. PMID 24194536, Free PMC Article
    2. Plasma membrane-associated annexin A6 reduces Ca2+ entry by stabilizing the cortical actin cytoskeleton. Monastyrskaya K, et al. J Biol Chem, 2009 Jun 19. PMID 19386597, Free PMC Article
    3. Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts. Sztolsztener ME, et al. Arch Biochem Biophys, 2010 Jan 15. PMID 19900398
    4. Interaction of annexin A6 with cholesterol rich membranes is pH-dependent and mediated by the sterol OH. Domon MM, et al. J Colloid Interface Sci, 2010 Jun 15. PMID 20363475
    5. Annexin A6-Linking Ca(2+) signaling with cholesterol transport. Enrich C, et al. Biochim Biophys Acta, 2011 May. PMID 20888375

    See all (178) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SUMOylation of annexin A6 retards cell migration and tumor growth by suppressing RHOU/AKT1-involved EMT in hepatocellular carcinoma.
      Title: SUMOylation of annexin A6 retards cell migration and tumor growth by suppressing RHOU/AKT1-involved EMT in hepatocellular carcinoma.
    2. Annexin A6 mitigates neurological deficit in ischemia/reperfusion injury by promoting synaptic plasticity.
      Title: Annexin A6 mitigates neurological deficit in ischemia/reperfusion injury by promoting synaptic plasticity.
    3. Comprehensive analysis the diagnosis, malignant progression and immune infiltrate of ANXA6 in prostate cancer.
      Title: Comprehensive analysis the diagnosis, malignant progression and immune infiltrate of ANXA6 in prostate cancer.
    4. Annexin A6 mediates calcium-dependent exosome secretion during plasma membrane repair.
      Title: Annexin A6 mediates calcium-dependent exosome secretion during plasma membrane repair.
    5. Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish.
      Title: Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish.
    6. Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
      Title: Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
    7. The Impact of ANxA6 Gene Polymorphism on the Efficacy of Methotrexate Treatment in Psoriasis Patients.
      Title: The Impact of ANxA6 Gene Polymorphism on the Efficacy of Methotrexate Treatment in Psoriasis Patients.
    8. CRISPR-Cas9 mediated knockout of AnxA6 gene enhances influenza A virus replication in low-permissive HEK293FT cell line.
      Title: CRISPR-Cas9 mediated knockout of AnxA6 gene enhances influenza A virus replication in low-permissive HEK293FT cell line.
    9. Annexins A2, A6 and Fetuin-A Affect the Process of Mineralization in Vesicles Derived from Human Osteoblastic hFOB 1.19 and Osteosarcoma Saos-2 Cells.
      Title: Annexins A2, A6 and Fetuin-A Affect the Process of Mineralization in Vesicles Derived from Human Osteoblastic hFOB 1.19 and Osteosarcoma Saos-2 Cells.
    10. Diverse Roles of Annexin A6 in Triple-Negative Breast Cancer Diagnosis, Prognosis and EGFR-Targeted Therapies.
      Title: Diverse Roles of Annexin A6 in Triple-Negative Breast Cancer Diagnosis, Prognosis and EGFR-Targeted Therapies.
    Submit: New GeneRIF Correction See all GeneRIFs (63)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ligand-gated monoatomic ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables lipid binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of sequestering of calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    annexin A6
    Names
    67 kDa calelectrin
    annexin VI (p68)
    annexin-6
    calcium-binding protein p68
    calelectrin
    calphobindin II
    chromobindin-20
    lipocortin VI
    testis secretory sperm-binding protein Li 198a

    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_001155.5 → NP_001146.2  annexin A6 isoform 1

      See identical proteins and their annotated locations for NP_001146.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008641, AI566871, BC017046, DC411634
      Consensus CDS
      CCDS47315.1
      UniProtKB/Swiss-Prot
      B7Z8A7, D3DQH4, E9PGK1, P08133, Q6ZT79
      UniProtKB/TrEMBL
      A0A0S2Z2Z6, A8K3Q7
      Related
      ENSP00000346550.5, ENST00000354546.10
      Conserved Domains (1) summary
      pfam00191
      Location:439 → 504
      Annexin; Annexin

    2. NM_001193544.2 → NP_001180473.1  annexin A6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC008641, AI566871, AK303078, BM904172, Y00097
      Consensus CDS
      CCDS54941.1
      UniProtKB/TrEMBL
      A8K3Q7
      Related
      ENSP00000430517.1, ENST00000523714.5
      Conserved Domains (1) summary
      pfam00191
      Location:407 → 472
      Annexin; Annexin

    3. NM_001363114.2 → NP_001350043.1  annexin A6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC008641, AI566871
      Consensus CDS
      CCDS47314.1
      UniProtKB/TrEMBL
      A0A0S2Z377, A8K3Q7
      Related
      ENSP00000514965.1, ENST00000700367.1
      Conserved Domains (1) summary
      pfam00191
      Location:439 → 504
      Annexin; Annexin

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      151100706..151157779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151637192..151694982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352480.1 → XP_054208455.1  annexin A6 isoform X1

      UniProtKB/Swiss-Prot
      B7Z8A7, D3DQH4, E9PGK1, P08133, Q6ZT79
      UniProtKB/TrEMBL
      A0A0S2Z2Z6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004033.2: Suppressed sequence

      Description
      NM_004033.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08133.3 GenPept UniProtKB/Swiss-Prot:P08133

    Gene LinkOut

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

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