ANXA11 annexin A11 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 10q22.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (80150889..80205808, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (81020012..81074920, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81910645..81965564, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Non-canonical RNA-binding protein ANXA11 regulates microRNA resorting into small extracellular vesicles to mediate cisplatin resistance.
Title: Non-canonical RNA-binding protein ANXA11 regulates microRNA resorting into small extracellular vesicles to mediate cisplatin resistance.
Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.
Title: Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.
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.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Title: Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
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.
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.
ANXA11 rs1049550 Associates with Lofgren's Syndrome and Chronic Sarcoidosis Patients.
Title: ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients.
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.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Title: A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Title: ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 23 MedGen: C4693381 OMIM: 617839 GeneReviews: Amyotrophic Lateral Sclerosis Overview	not available
Inclusion body myopathy and brain white matter abnormalities MedGen: C5676909 OMIM: 619733 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17317 (e-PCR)
- UniSTS:25606

STS-N35254 (e-PCR)
- UniSTS:37913

ANXA11_1921 (e-PCR)
- UniSTS:280441

D10S2353 (e-PCR)
- UniSTS:32504

ANXA11 (e-PCR)
- UniSTS:509950

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class II protein complex binding	HDA more info	PubMed
enables RNA binding	HDA more info	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 more info	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 more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	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)

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
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
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
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)
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
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