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ANXA11 annexin A11 [ Homo sapiens (human) ]

Gene ID: 311, updated on 11-Apr-2024

Summary

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Official Symbol
ANXA11provided by HGNC
Official Full Name
annexin A11provided by HGNC
Primary source
HGNC:HGNC:535
See related
Ensembl:ENSG00000122359 MIM:602572; AllianceGenome:HGNC:535
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; IBMWMA
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
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Genomic context

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See ANXA11 in Genome Data Viewer
Location:
10q22.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80150889..80205808, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81020012..81074920, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81910645..81965564, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 pseudogene 18 Neighboring gene placenta associated 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:81917938-81919137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81928334-81928862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:81931132-81932057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81936179-81936680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81936681-81937180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81937700-81938200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:81945900-81946400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81954116-81954792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81954793-81955468 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:81955517-81956716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2544 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:81966703-81967902 Neighboring gene long intergenic non-protein coding RNA 857 Neighboring gene ribosomal protein S12 pseudogene 2 Neighboring gene uncharacterized LOC124902470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3652

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. Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants. Natera-de Benito D, et al. Ann Clin Transl Neurol, 2023 Mar. PMID 36651622, Free PMC Article
  2. Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis. Jiang Q, et al. Neurobiol Dis, 2022 Dec. PMID 36280108
  3. Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. Johari M, et al. Ann Clin Transl Neurol, 2022 Oct. PMID 36134701, Free PMC Article
  4. ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients. Karakaya B, et al. Cells, 2022 May 5. PMID 35563867, Free PMC Article
  5. ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism. Darvish H, et al. Ann Neurol, 2021 Aug. PMID 34180078

See all (117) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircSOD2 Contributes to Tumor Progression, Immune Evasion and Anti-PD-1 Resistance in Hepatocellular Carcinoma by Targeting miR-497-5p/ANXA11 Axis.
    Title: CircSOD2 Contributes to Tumor Progression, Immune Evasion and Anti-PD-1 Resistance in Hepatocellular Carcinoma by Targeting miR-497-5p/ANXA11 Axis.
  2. Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
    Title: Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
  3. Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis.
    Title: Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis.
  4. Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
    Title: Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
  5. ANXA11 rs1049550 Associates with Lofgren's Syndrome and Chronic Sarcoidosis Patients.
    Title: ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients.
  6. Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
    Title: Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
  7. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
    Title: A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
  8. ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
    Title: ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
  9. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
    Title: Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
  10. ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
    Title: ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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

EBI GWAS Catalog

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

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

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

General protein information

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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)

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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_001157.3 → NP_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)
    AL356095, AL513174
    Consensus CDS
    CCDS7364.1
    UniProtKB/Swiss-Prot
    B4DVE7, P50995
    UniProtKB/TrEMBL
    Q5T0G8, Q6ICS0
    Related
    ENSP00000361305.3, ENST00000372231.7
    Conserved Domains (2) summary
    PHA03378
    Location:75 → 194
    PHA03378; EBNA-3B; Provisional
    pfam00191
    Location:204 → 269
    Annexin

  2. NM_001278407.2 → NP_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, AL513174, DA558997
    Consensus CDS
    CCDS7364.1
    UniProtKB/Swiss-Prot
    B4DVE7, P50995
    UniProtKB/TrEMBL
    Q5T0G8, Q6ICS0
    Conserved Domains (2) summary
    PHA03378
    Location:75 → 194
    PHA03378; EBNA-3B; Provisional
    pfam00191
    Location:204 → 269
    Annexin

  3. NM_001278408.2 → NP_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
    B4DVE7, P50995
    UniProtKB/TrEMBL
    Q5T0G8, Q6ICS0
    Conserved Domains (2) summary
    PHA03378
    Location:75 → 194
    PHA03378; EBNA-3B; Provisional
    pfam00191
    Location:204 → 269
    Annexin

  4. NM_001278409.2 → NP_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/TrEMBL
    Q6ICS0
    Related
    ENSP00000265447.5, ENST00000265447.8
    Conserved Domains (2) summary
    pfam00191
    Location:171 → 236
    Annexin; Annexin
    cl27975
    Location:42 → 161
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

  5. NM_145868.2 → NP_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
    B4DVE7, P50995
    UniProtKB/TrEMBL
    Q5T0G8, Q6ICS0
    Related
    ENSP00000404412.2, ENST00000422982.8
    Conserved Domains (2) summary
    PHA03378
    Location:75 → 194
    PHA03378; EBNA-3B; Provisional
    pfam00191
    Location:204 → 269
    Annexin

  6. NM_145869.2 → NP_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)
    AL356095, AL513174
    Consensus CDS
    CCDS7364.1
    UniProtKB/Swiss-Prot
    B4DVE7, P50995
    UniProtKB/TrEMBL
    Q5T0G8, Q6ICS0
    Related
    ENSP00000398610.1, ENST00000438331.5
    Conserved Domains (2) summary
    PHA03378
    Location:75 → 194
    PHA03378; EBNA-3B; Provisional
    pfam00191
    Location:204 → 269
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    80150889..80205808 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269741.5 → XP_005269798.1  annexin A11 isoform X1

    UniProtKB/TrEMBL
    B7Z6L0
    Conserved Domains (1) summary
    pfam00191
    Location:304 → 369
    Annexin; Annexin

  2. XM_005269742.2 → XP_005269799.1  annexin A11 isoform X2

    See identical proteins and their annotated locations for XP_005269799.1

    UniProtKB/TrEMBL
    Q6ICS0
    Conserved Domains (1) summary
    pfam00191
    Location:204 → 269
    Annexin; Annexin

  3. XM_006717813.3 → XP_006717876.1  annexin A11 isoform X2

    See identical proteins and their annotated locations for XP_006717876.1

    UniProtKB/TrEMBL
    Q6ICS0
    Conserved Domains (1) summary
    pfam00191
    Location:204 → 269
    Annexin; Annexin

  4. XM_047425140.1 → XP_047281096.1  annexin A11 isoform X2

  5. XM_047425141.1 → XP_047281097.1  annexin A11 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    81020012..81074920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365695.1 → XP_054221670.1  annexin A11 isoform X3

    UniProtKB/Swiss-Prot
    B4DVE7, P50995
    UniProtKB/TrEMBL
    Q5T0G8

  2. XM_054365690.1 → XP_054221665.1  annexin A11 isoform X1

  3. XM_054365692.1 → XP_054221667.1  annexin A11 isoform X2

  4. XM_054365693.1 → XP_054221668.1  annexin A11 isoform X2

  5. XM_054365691.1 → XP_054221666.1  annexin A11 isoform X2

  6. XM_054365694.1 → XP_054221669.1  annexin A11 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50995.1 GenPept UniProtKB/Swiss-Prot:P50995

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