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    ANXA11 annexin A11 [ Homo sapiens (human) ]

    Gene ID: 311, updated on 13-Feb-2019

    Summary

    Official Symbol
    ANXA11provided by HGNC
    Official Full Name
    annexin A11provided by HGNC
    Primary source
    HGNC:HGNC:535
    See related
    Ensembl:ENSG00000122359 MIM:602572
    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
    ALS23; ANX11; CAP50; CAP-50
    Summary
    This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in esophagus (RPKM 36.2), heart (RPKM 32.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See ANXA11 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (80153953..80205677, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81914880..81965433, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 pseudogene 18 Neighboring gene placenta specific 9 Neighboring gene long intergenic non-protein coding RNA 857 Neighboring gene ribosomal protein S12 pseudogene 2 Neighboring gene uncharacterized LOC100130698 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 4

    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?

    Phenotypes

    Associated conditions

    Description Tests
    AMYOTROPHIC LATERAL SCLEROSIS 23
    MedGen: C4693381 OMIM: 617839 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    NHGRI GWA Catalog
    Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MHC class II protein complex binding HDA PubMed 
    RNA binding HDA PubMed 
    S100 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    S100 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    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 
    phosphatidylethanolamine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cytokinetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phagocytosis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    azurophil granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen-containing extracellular matrix HDA PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    annexin A11
    Names
    56 kDa autoantigen
    annexin XI
    annexin-11
    calcyclin-associated annexin 50
    epididymis secretory sperm binding protein

    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_001157.2NP_001148.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_001148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the shortest transcript. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AJ278463
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      P50995
      UniProtKB/TrEMBL
      Q5T0G8
      Related
      ENSP00000361305.3, ENST00000372231.7
      Conserved Domains (2) summary
      pfam00191
      Location:204269
      Annexin; Annexin
      cl27975
      Location:75194
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    2. NM_001278407.1NP_001265336.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_001265336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AJ278463, AK056107, AL356095, DA558997
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      P50995
      UniProtKB/TrEMBL
      Q5T0G8
      Conserved Domains (2) summary
      pfam00191
      Location:204269
      Annexin; Annexin
      cl27975
      Location:75194
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    3. NM_001278408.1NP_001265337.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_001265337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AJ278463, AK126287, AL356095, AL513174, BC007564
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      P50995
      UniProtKB/TrEMBL
      Q5T0G8
      Conserved Domains (2) summary
      pfam00191
      Location:204269
      Annexin; Annexin
      cl27975
      Location:75194
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    4. NM_001278409.1NP_001265338.1  annexin A11 isoform 2

      See identical proteins and their annotated locations for NP_001265338.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) contains an alternate exon compared to variant 1. This difference results in a distinct 5' UTR and causes translation initiation at a downstream start codon, compared to variant a. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AJ278463, AK301047, AL356095, AL513174
      Consensus CDS
      CCDS60576.1
      UniProtKB/Swiss-Prot
      P50995
      Related
      ENSP00000265447.5, ENST00000265447.8
      Conserved Domains (2) summary
      pfam00191
      Location:171236
      Annexin; Annexin
      cl27975
      Location:42161
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    5. NM_145868.2NP_665875.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_665875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AL356095, AL513174
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      P50995
      UniProtKB/TrEMBL
      Q5T0G8
      Related
      ENSP00000404412.2, ENST00000422982.7
      Conserved Domains (2) summary
      pfam00191
      Location:204269
      Annexin; Annexin
      cl27975
      Location:75194
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    6. NM_145869.1NP_665876.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_665876.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AJ278465
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      P50995
      UniProtKB/TrEMBL
      Q5T0G8
      Related
      ENSP00000398610.1, ENST00000438331.5
      Conserved Domains (2) summary
      pfam00191
      Location:204269
      Annexin; Annexin
      cl27975
      Location:75194
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    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_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      80153953..80205677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539736.3XP_011538038.1  annexin A11 isoform X3

      See identical proteins and their annotated locations for XP_011538038.1

      UniProtKB/Swiss-Prot
      P50995
      UniProtKB/TrEMBL
      Q5T0G8
      Conserved Domains (2) summary
      pfam00191
      Location:204269
      Annexin; Annexin
      cl27975
      Location:75194
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    2. XM_005269741.4XP_005269798.1  annexin A11 isoform X1

      Conserved Domains (1) summary
      pfam00191
      Location:304369
      Annexin; Annexin
    3. XM_005269742.1XP_005269799.1  annexin A11 isoform X2

      See identical proteins and their annotated locations for XP_005269799.1

      Conserved Domains (1) summary
      pfam00191
      Location:204269
      Annexin; Annexin
    4. XM_006717813.2XP_006717876.1  annexin A11 isoform X2

      See identical proteins and their annotated locations for XP_006717876.1

      Conserved Domains (1) summary
      pfam00191
      Location:204269
      Annexin; Annexin
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