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Aliases for ANKLE1 Gene

Aliases for ANKLE1 Gene

  • Ankyrin Repeat And LEM Domain Containing 1 2 3
  • Ankyrin Repeat Domain-Containing Protein 41 3 4
  • LEM Domain Containing 6 2 3
  • ANKRD41 3 4
  • LEM3 3 4
  • Ankyrin Repeat And LEM Domain-Containing Protein 1 3
  • LEM-Domain Containing Protein 3 4
  • Ankyrin Repeat Domain 41 2
  • LEM-Domain Containing 3 3
  • LEMD6 3

External Ids for ANKLE1 Gene

Previous HGNC Symbols for ANKLE1 Gene

  • ANKRD41

Previous GeneCards Identifiers for ANKLE1 Gene

  • GC19P017255
  • GC19P017394
  • GC19P016959
  • GC19P017470
  • GC19P017901

Summaries for ANKLE1 Gene

GeneCards Summary for ANKLE1 Gene

ANKLE1 (Ankyrin Repeat And LEM Domain Containing 1) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKLE1 Gene

Genomics for ANKLE1 Gene

Regulatory Elements for ANKLE1 Gene

Genomic Location for ANKLE1 Gene

Start:
17,281,645 bp from pter
End:
17,287,646 bp from pter
Size:
6,002 bases
Orientation:
Plus strand

Genomic View for ANKLE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKLE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKLE1 Gene

Proteins for ANKLE1 Gene

  • Protein details for ANKLE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NAG6-ANKL1_HUMAN
    Recommended name:
    Ankyrin repeat and LEM domain-containing protein 1
    Protein Accession:
    Q8NAG6
    Secondary Accessions:
    • A8VU82
    • Q8N8J8

    Protein attributes for ANKLE1 Gene

    Size:
    615 amino acids
    Molecular mass:
    66890 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04840.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKLE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKLE1 Gene

Proteomics data for ANKLE1 Gene at MOPED

Post-translational modifications for ANKLE1 Gene

  • Ubiquitination at Lys354
  • Modification sites at PhosphoSitePlus

Other Protein References for ANKLE1 Gene

No data available for DME Specific Peptides for ANKLE1 Gene

Domains for ANKLE1 Gene

Gene Families for ANKLE1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for ANKLE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NAG6

UniProtKB/Swiss-Prot:

ANKL1_HUMAN :
  • Q8NAG6
Domain:
  • Contains 1 GIY-YIG domain.
  • Contains 1 LEM domain.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with ANKLE1: view

Function for ANKLE1 Gene

Gene Ontology (GO) - Molecular Function for ANKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0005515 protein binding --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with ANKLE1: view

Phenotypes for ANKLE1 Gene

genes like me logo Genes that share phenotypes with ANKLE1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ANKLE1 Gene

Localization for ANKLE1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKLE1 Gene COMPARTMENTS Subcellular localization image for ANKLE1 gene
Compartment Confidence
cytosol 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKLE1 Gene

Pathways for ANKLE1 Gene

SuperPathways for ANKLE1 Gene

No Data Available

Interacting Proteins for ANKLE1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000377971%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000376076%0d%0a
Selected Interacting proteins: ENSP00000377971 Q8NAG6-ANKL1_HUMAN for ANKLE1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ANKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with ANKLE1: view

No data available for Pathways by source for ANKLE1 Gene

Transcripts for ANKLE1 Gene

Unigene Clusters for ANKLE1 Gene

Ankyrin repeat and LEM domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKLE1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: -
SP3: -
SP4:
SP5:

Relevant External Links for ANKLE1 Gene

GeneLoc Exon Structure for
ANKLE1
ECgene alternative splicing isoforms for
ANKLE1

Expression for ANKLE1 Gene

mRNA expression in normal human tissues for ANKLE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKLE1 Gene

This gene is overexpressed in Brain - Cerebellum (4.9) and Brain - Cerebellar Hemisphere (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ANKLE1 Gene

SOURCE GeneReport for Unigene cluster for ANKLE1 Gene Hs.721610

genes like me logo Genes that share expressions with ANKLE1: view

No data available for mRNA Expression by UniProt/SwissProt for ANKLE1 Gene

Orthologs for ANKLE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKLE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKLE1 35
  • 98.7 (n)
  • 97.16 (a)
ANKLE1 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKLE1 35
  • 76.65 (n)
  • 69.58 (a)
ANKLE1 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKLE1 35
  • 77.23 (n)
  • 70.15 (a)
ANKLE1 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankle1 35
  • 64.6 (n)
  • 64.03 (a)
Ankle1 16
Ankle1 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKLE1 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKLE1 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankle1 35
  • 65.82 (n)
  • 63.28 (a)
chicken
(Gallus gallus)
Aves ANKLE1 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKLE1 36
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ANKLE1 36
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42391 36
  • 30 (a)
OneToMany
CG8679 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for ANKLE1:
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ANKLE1 Gene

ENSEMBL:
Gene Tree for ANKLE1 (if available)
TreeFam:
Gene Tree for ANKLE1 (if available)

Paralogs for ANKLE1 Gene

No data available for Paralogs for ANKLE1 Gene

Variants for ANKLE1 Gene

Sequence variations from dbSNP and Humsavar for ANKLE1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs748850 -- 17,286,133(-) TACTG(A/G)GGAGG intron-variant
rs751599 -- 17,285,740(+) TGCGG(C/T)GTTGT synonymous-codon, reference, intron-variant, nc-transcript-variant
rs891017 - 17,283,695(+) CACCA(A/C)CCCCT reference, missense, nc-transcript-variant
rs891018 -- 17,285,952(+) GCACA(C/T)GCATG intron-variant
rs891019 -- 17,286,077(+) GATCC(C/T)GACTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKLE1 Gene

Variant ID Type Subtype PubMed ID
dgv3757n71 CNV Loss 21882294
dgv3758n71 CNV Loss 21882294
nsv911182 CNV Loss 21882294
nsv470129 CNV Loss 18288195
nsv911185 CNV Loss 21882294
nsv911186 CNV Gain 21882294
nsv911188 CNV Loss 21882294
dgv3759n71 CNV Loss 21882294
dgv3760n71 CNV Loss 21882294
nsv911198 CNV Loss 21882294
nsv911199 CNV Loss 21882294
nsv515965 CNV Loss 19592680
nsv911200 CNV Loss 21882294
esv2674696 CNV Deletion 23128226
esv2661731 CNV Deletion 23128226

Relevant External Links for ANKLE1 Gene

HapMap Linkage Disequilibrium report
ANKLE1
Human Gene Mutation Database (HGMD)
ANKLE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKLE1 Gene

Disorders for ANKLE1 Gene

Relevant External Links for ANKLE1

Genetic Association Database (GAD)
ANKLE1
Human Genome Epidemiology (HuGE) Navigator
ANKLE1
genes like me logo Genes that share disorders with ANKLE1: view

No data available for UniProtKB/Swiss-Prot for ANKLE1 Gene

Publications for ANKLE1 Gene

  1. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. (PMID: 20852631) Antoniou A.C. … Couch F.J. (Nat. Genet. 2010) 3 48
  2. Common variants at 19p13 are associated with susceptibility to ovarian cancer. (PMID: 20852633) Bolton K.L. … Gayther S.A. (Nat. Genet. 2010) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. All in the family: evidence for four new LEM-domain proteins Lem2 (NET-25), Lem3, Lem4 and Lem5 in the human genome. (PMID: 15565891) Lee K.K. … Wilson K.L. (Symp. Soc. Exp. Biol. 2004) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for ANKLE1 Gene

Sources for ANKLE1 Gene

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