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Aliases for ANXA8L1 Gene

Aliases for ANXA8L1 Gene

  • Annexin A8-Like 1 2 3 5
  • ANXA8L2 3 4
  • Vascular Anticoagulant-Beta 3
  • Annexin A8-Like Protein 1 3
  • Annexin A8-Like Protein 2 3
  • Annexin A8-Like 2 2
  • Annexin VIII 3
  • Annexin A8L2 3
  • BA145E20.2 3
  • Annexin-8 3
  • VAC-Beta 3
  • ANXA8 3

External Ids for ANXA8L1 Gene

Previous HGNC Symbols for ANXA8L1 Gene

  • ANXA8L2

Previous GeneCards Identifiers for ANXA8L1 Gene

  • GC10U900551
  • GC10M046578
  • GC10M047157

Summaries for ANXA8L1 Gene

Entrez Gene Summary for ANXA8L1 Gene

  • This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]

GeneCards Summary for ANXA8L1 Gene

ANXA8L1 (Annexin A8-Like 1) is a Protein Coding gene. Diseases associated with ANXA8L1 include Bile Duct Adenocarcinoma and Bile Duct Carcinoma. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is ANXA8.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANXA8L1 Gene

Genomics for ANXA8L1 Gene

Regulatory Elements for ANXA8L1 Gene

Enhancers for ANXA8L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F046522 1.4 Ensembl ENCODE 9.1 +149.1 149109 3.6 HDGF ARNT SIN3A YBX1 ZNF2 ZNF143 ZNF207 FOS ZNF592 SREBF1 PARGP1 BMS1P1 AGAP4 AGAP9 WASHC2C FAM21FP LOC105378289 AGAP10P ANXA8L1 PTPN20
GH10F046572 0.9 Ensembl ENCODE 12.1 +198.4 198411 2.8 CTCF ESRRA BHLHE40 MAX MNT REST NR2F2 SMARCA4 SMC3 MYC ANXA8L1 PIR34546 SYT15
GH10F046313 0.8 Ensembl ENCODE 13.4 -60.6 -60645 3.4 GATA3 PKNOX1 CTBP1 TAL1 DPF2 TRIM24 RAD21 ANXA8L1 LINC00842 PIR43906 ANTXRL
GH10F046308 0.5 ENCODE 13.5 -66.0 -65990 1.4 ZNF316 ZNF362 HLF EMSY ANXA8L1 LINC00842 GDF10 ANTXRL PIR43906
GH10F046538 1.4 FANTOM5 Ensembl ENCODE 4.6 +165.0 165003 3.2 SIN3A DMAP1 YY1 SCRT2 REST SREBF1 CBX8 SMARCA4 IRF1 KDM1A SYT15 AGAP10P GPRIN2 ANXA8L1 PIR31182 GC10P046518
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANXA8L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANXA8L1 Gene

Chromosome:
10
Start:
46,375,590 bp from pter
End:
46,537,864 bp from pter
Size:
162,275 bases
Orientation:
Plus strand

Genomic View for ANXA8L1 Gene

Genes around ANXA8L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANXA8L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANXA8L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANXA8L1 Gene

Proteins for ANXA8L1 Gene

  • Protein details for ANXA8L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VT79-AXA81_HUMAN
    Recommended name:
    Annexin A8-like protein 1
    Protein Accession:
    Q5VT79
    Secondary Accessions:
    • A0A0B4J2D4
    • B2R939
    • Q53FY2
    • Q5VT78
    • Q96H89

    Protein attributes for ANXA8L1 Gene

    Size:
    327 amino acids
    Molecular mass:
    36879 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ANXA8L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANXA8L1 Gene

Post-translational modifications for ANXA8L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANXA8L1 Gene

No data available for DME Specific Peptides for ANXA8L1 Gene

Domains & Families for ANXA8L1 Gene

Gene Families for ANXA8L1 Gene

Protein Domains for ANXA8L1 Gene

Suggested Antigen Peptide Sequences for ANXA8L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VT79

UniProtKB/Swiss-Prot:

AXA81_HUMAN :
  • A pair of annexin repeats may form one binding site for calcium and phospholipid.
  • Belongs to the annexin family.
  • Contains 4 annexin repeats.
Domain:
  • A pair of annexin repeats may form one binding site for calcium and phospholipid.
Family:
  • Belongs to the annexin family.
Similarity:
  • Contains 4 annexin repeats.
genes like me logo Genes that share domains with ANXA8L1: view

Function for ANXA8L1 Gene

Gene Ontology (GO) - Molecular Function for ANXA8L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005544 calcium-dependent phospholipid binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ANXA8L1: view
genes like me logo Genes that share phenotypes with ANXA8L1: view

Animal Model Products

miRNA for ANXA8L1 Gene

miRTarBase miRNAs that target ANXA8L1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANXA8L1 Gene

Localization for ANXA8L1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANXA8L1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
endosome 5
peroxisome 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ANXA8L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ANXA8L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANXA8L1 Gene

Pathways & Interactions for ANXA8L1 Gene

SuperPathways for ANXA8L1 Gene

No Data Available

Interacting Proteins for ANXA8L1 Gene

Gene Ontology (GO) - Biological Process for ANXA8L1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANXA8L1 Gene

Drugs & Compounds for ANXA8L1 Gene

(1) Drugs for ANXA8L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with ANXA8L1: view

Transcripts for ANXA8L1 Gene

mRNA/cDNA for ANXA8L1 Gene

(5) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANXA8L1 Gene

Annexin A8-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANXA8L1 Gene

No ASD Table

Relevant External Links for ANXA8L1 Gene

GeneLoc Exon Structure for
ANXA8L1
ECgene alternative splicing isoforms for
ANXA8L1

Expression for ANXA8L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANXA8L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANXA8L1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x12.2), Esophagus - Mucosa (x11.7), Skin - Sun Exposed (Lower leg) (x11.3), and Vagina (x6.1).

Protein differential expression in normal tissues from HIPED for ANXA8L1 Gene

This gene is overexpressed in Saliva (37.4), Skin (20.4), and Urine (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANXA8L1 Gene



Protein tissue co-expression partners for ANXA8L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANXA8L1 Gene:

ANXA8L1

SOURCE GeneReport for Unigene cluster for ANXA8L1 Gene:

Hs.744068
genes like me logo Genes that share expression patterns with ANXA8L1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ANXA8L1 Gene

Orthologs for ANXA8L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANXA8L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANXA8L1 34
  • 99.08 (n)
cow
(Bos Taurus)
Mammalia ANXA8L1 34
  • 89.47 (n)
dog
(Canis familiaris)
Mammalia ANXA8L1 34
  • 89.23 (n)
mouse
(Mus musculus)
Mammalia Anxa8 34 16
  • 88.45 (n)
rat
(Rattus norvegicus)
Mammalia Anxa8 34
  • 88.34 (n)
chicken
(Gallus gallus)
Aves ANXA8 34
  • 72.49 (n)
Species where no ortholog for ANXA8L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ANXA8L1 Gene

ENSEMBL:
Gene Tree for ANXA8L1 (if available)
TreeFam:
Gene Tree for ANXA8L1 (if available)

Paralogs for ANXA8L1 Gene

Paralogs for ANXA8L1 Gene

(15) SIMAP similar genes for ANXA8L1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ANXA8L1: view

Variants for ANXA8L1 Gene

Sequence variations from dbSNP and Humsavar for ANXA8L1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs111241278 -- 46,391,031(+) GAAAG(G/T)CTGGG intron-variant, utr-variant-3-prime
rs112668902 -- 46,392,210(-) GCAGC(C/T)AAGTG intron-variant, downstream-variant-500B
rs113092268 -- 46,374,638(+) TGCTC(A/G)TCATC intron-variant, upstream-variant-2KB
rs115627825 -- 46,390,356(+) GAGAT(C/T)GATGC intron-variant
rs116420620 -- 46,389,875(+) AGACA(A/C/T)GGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANXA8L1 Gene

Variant ID Type Subtype PubMed ID
nsv947950 CNV duplication 23825009
nsv947949 CNV duplication 23825009
nsv947932 CNV duplication 23825009
nsv831859 CNV gain+loss 17160897
nsv831853 CNV gain 17160897
nsv820817 CNV duplication 20802225
nsv550758 CNV loss 21841781
nsv550723 CNV gain 21841781
nsv437116 CNV loss 16327808
nsv1161950 CNV duplication 26073780
nsv1147916 CNV duplication 26484159
nsv1139527 CNV duplication 24896259
nsv1069477 CNV deletion 25765185
nsv1050225 CNV gain+loss 25217958
nsv1041060 CNV gain+loss 25217958
esv3891802 CNV gain 25118596
esv2736152 CNV deletion 23290073
dgv817n100 CNV loss 25217958
dgv807n100 CNV gain 25217958
dgv767n100 CNV gain 25217958
dgv765n100 CNV loss 25217958
dgv135e199 CNV deletion 23128226
dgv1119n54 CNV loss 21841781
dgv1112n54 CNV gain+loss 21841781
dgv1110n54 CNV gain 21841781
dgv1106n54 CNV gain 21841781

Variation tolerance for ANXA8L1 Gene

Gene Damage Index Score: 1.95; 36.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANXA8L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANXA8L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANXA8L1 Gene

Disorders for ANXA8L1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ANXA8L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bile duct adenocarcinoma
bile duct carcinoma
  • carcinoma of extrahepatic bile duct
pre-malignant neoplasm
breast carcinoma in situ
  • carcinoma in situ of breast
in situ carcinoma
  • carcinoma in situ
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ANXA8L1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANXA8L1
genes like me logo Genes that share disorders with ANXA8L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANXA8L1 Gene

Publications for ANXA8L1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64
  5. The interaction between ubiquitin C-terminal hydrolase 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PMID: 21800051) Fang Y. … Shen X. (Mol. Cell. Biochem. 2012) 3 64

Products for ANXA8L1 Gene

Sources for ANXA8L1 Gene

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