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ANKLE1 ankyrin repeat and LEM domain containing 1 [ Homo sapiens (human) ]

Gene ID: 126549, updated on 1-Jun-2020

Summary

Official Symbol
ANKLE1provided by HGNC
Official Full Name
ankyrin repeat and LEM domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26812
See related
Ensembl:ENSG00000160117
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LEM3; LEMD6; ANKRD41
Expression
Biased expression in bone marrow (RPKM 8.2), lymph node (RPKM 1.3) and 2 other tissues See more
Orthologs

Genomic context

See ANKLE1 in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17281901..17287646)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17392454..17398455)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene USH1 protein network component harmonin binding protein 1 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene abhydrolase domain containing 8 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene DET1 and DDB1 associated 1 Neighboring gene anoctamin 8

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
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.
NHGRI GWA Catalog
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
NHGRI GWA Catalog
Common variants at 19p13 are associated with susceptibility to ovarian cancer.
NHGRI GWA Catalog
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
NHGRI GWA Catalog

General gene information

Markers

Potential readthrough

Included gene: BABAM1

Homology

Clone Names

  • FLJ39369, FLJ60035

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
nucleic acid phosphodiester bond hydrolysis IC
Inferred by Curator
more info
PubMed 
positive regulation of response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
protein export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nucleus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
ankyrin repeat and LEM domain-containing protein 1
Names
LEM domain containing 6
LEM-domain containing 3
ankyrin repeat domain-containing protein 41

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_001278443.2NP_001265372.2  ankyrin repeat and LEM domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC010463, AK096688, AK303628
    Related
    ENSP00000498416.1, ENST00000652132.1
    Conserved Domains (3) summary
    cd10454
    Location:413528
    GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
    cd00204
    Location:12117
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:6495
    ANK; ANK repeat [structural motif]
  2. NM_001278444.2NP_001265373.2  ankyrin repeat and LEM domain-containing protein 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and contains a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010463, AK299977, AK303628
    Related
    ENSP00000470895.2, ENST00000598347.2
    Conserved Domains (3) summary
    cd00204
    Location:23128
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:75106
    ANK; ANK repeat [structural motif]
    cl15257
    Location:424507
    GIY-YIG_SF; GIY-YIG nuclease domain superfamily
  3. NM_001278445.2NP_001265374.2  ankyrin repeat and LEM domain-containing protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate splice sites in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010463, AK096688, AK303628
    Related
    ENST00000651416.1
    Conserved Domains (3) summary
    cd10454
    Location:410525
    GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
    cd00204
    Location:2114
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:6192
    ANK; ANK repeat [structural motif]
  4. NM_152363.6NP_689576.6  ankyrin repeat and LEM domain-containing protein 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010463, AK096688, AK303628
    Consensus CDS
    CCDS12354.3
    Related
    ENSP00000384008.3, ENST00000404085.7
    Conserved Domains (4) summary
    cd10454
    Location:450565
    GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
    cd00204
    Location:23128
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd12943
    Location:361398
    LEM_ANKL1; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 1 (ANKL1)
    sd00045
    Location:75106
    ANK; ANK repeat [structural motif]

RNA

  1. NR_103530.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC010463, AK303628

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17281901..17287646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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