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ANXA6 annexin A6 [ Homo sapiens (human) ]

Gene ID: 309, updated on 7-Dec-2018

Summary

Official Symbol
ANXA6provided by HGNC
Official Full Name
annexin A6provided by HGNC
Primary source
HGNC:HGNC:544
See related
Ensembl:ENSG00000197043 MIM:114070
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

Genomic context

See ANXA6 in Genome Data Viewer
Location:
5q33.1
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (151100706..151157882, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150480267..150537443, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene glutathione peroxidase 3 Neighboring gene TNFAIP3 interacting protein 1 Neighboring gene uncharacterized LOC107986463 Neighboring gene coiled-coil domain containing 69 Neighboring gene synapsin-1-like

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Prostaglandin Synthesis and Regulation, organism-specific biosystem (from WikiPathways)
    Prostaglandin Synthesis and Regulation, organism-specific biosystemA prostaglandin is any member of a group of lipid compounds that are derived enzymatically from fatty acids and have important functions in the animal body. Every prostaglandin contains 20 carbon ato...
  • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
    Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
chondroitin sulfate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ligand-gated ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipid binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
biomineral tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
growth plate cartilage chondrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of sequestering of calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001155.5NP_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
    P08133
    UniProtKB/TrEMBL
    A0A0S2Z2Z6
    Related
    ENSP00000346550.5, ENST00000354546.9
    Conserved Domains (1) summary
    pfam00191
    Location:439504
    Annexin; Annexin
  2. NM_001193544.1NP_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/Swiss-Prot
    P08133
    Related
    ENSP00000430517.1, ENST00000523714.5
    Conserved Domains (1) summary
    pfam00191
    Location:407472
    Annexin; Annexin
  3. NM_001363114.1NP_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
    Conserved Domains (1) summary
    pfam00191
    Location:439504
    Annexin; Annexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    151100706..151157882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268432.5XP_005268489.1  annexin A6 isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z377
    Conserved Domains (1) summary
    pfam00191
    Location:439504
    Annexin; Annexin

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.
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