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ANXA6 annexin A6 [ Homo sapiens (human) ]

Gene ID: 309, updated on 11-Apr-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
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Genomic context

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Location:
5q33.1
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151100706..151157779, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151637192..151694982, complement)
105.20220307 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
  • 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 mediates calcium-dependent exosome secretion during plasma membrane repair. Williams JK, et al. Elife, 2023 May 19. PMID 37204294, Free PMC Article
  2. CRISPR-Cas9 mediated knockout of AnxA6 gene enhances influenza A virus replication in low-permissive HEK293FT cell line. Komissarov A, et al. Gene, 2022 Jan 30. PMID 34673207
  3. The Impact of ANxA6 Gene Polymorphism on the Efficacy of Methotrexate Treatment in Psoriasis Patients. Fan Z, et al. Dermatology, 2021. PMID 33582672
  4. Diverse Roles of Annexin A6 in Triple-Negative Breast Cancer Diagnosis, Prognosis and EGFR-Targeted Therapies. Korolkova OY, et al. Cells, 2020 Aug 7. PMID 32784650, Free PMC Article
  5. Annexin-A6 in Membrane Repair of Human Skeletal Muscle Cell: A Role in the Cap Subdomain. Croissant C, et al. Cells, 2020 Jul 21. PMID 32708200, Free PMC Article

See all (164) 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 calcium ion transport IEA
Inferred from Electronic Annotation
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_2023_10

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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