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Aliases for ATMIN Gene

Aliases for ATMIN Gene

  • ATM Interactor 2 3 5
  • ATM/ATR-Substrate Chk2-Interacting Zn++-Finger Protein 2 3
  • ATM/ATR-Substrate CHK2-Interacting Zinc Finger Protein 3 4
  • ATM INteracting Protein 2 3
  • Zinc Finger Protein 822 3 4
  • ZNF822 3 4
  • ASCIZ 3 4
  • ATM/ATR-Substrate CHEK2-Interacting Zinc Finger Protein 3
  • KIAA0431 4

External Ids for ATMIN Gene

Previous GeneCards Identifiers for ATMIN Gene

  • GC16P079628
  • GC16P081069
  • GC16P066826

Summaries for ATMIN Gene

GeneCards Summary for ATMIN Gene

ATMIN (ATM Interactor) is a Protein Coding gene. Among its related pathways are ATM Signaling Network in Development and Disease. GO annotations related to this gene include transcription regulatory region DNA binding and dynein binding.

UniProtKB/Swiss-Prot for ATMIN Gene

  • Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATMIN Gene

Genomics for ATMIN Gene

Regulatory Elements for ATMIN Gene

Enhancers for ATMIN 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
GH16G081094 1.1 ENCODE 34 +60.5 60460 2.7 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A YBX1 ZNF766 ATMIN ENSG00000260495 PKD1L2 GCSH ENSG00000260643
GH16G081076 1.1 ENCODE 31.6 +41.3 41317 2.1 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ATMIN C16orf46 LOC105371361
GH16G081035 1 ENCODE 29.1 +0.7 701 2.3 CREB3L1 ARNT WRNIP1 ARID4B SIN3A YY1 SLC30A9 CBX5 ZNF207 ZNF143 ATMIN ENSG00000261141
GH16G081106 0.9 ENCODE 26.7 +71.4 71360 1.1 MLX ARID4B SIN3A DMAP1 ZNF48 RARA EGR1 PCBP1 THAP11 MXD4 ATMIN RNU6-1191P PKD1L2
GH16G081071 0.7 ENCODE 32.7 +36.1 36105 0.2 PKNOX1 SP5 TAF1 ETV1 NR2F1 ELF4 GABPA JUND HMBOX1 NR2C1 ATMIN LOC105371361 C16orf46
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATMIN on UCSC Golden Path with GeneCards custom track

Promoters for ATMIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088404 354 1600 ATF1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A BRCA1 ZNF48 YY1 SLC30A9

Genomic Location for ATMIN Gene

Chromosome:
16
Start:
81,035,847 bp from pter
End:
81,047,358 bp from pter
Size:
11,512 bases
Orientation:
Plus strand

Genomic View for ATMIN Gene

Genes around ATMIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ATMIN Gene

Proteins for ATMIN Gene

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

    Protein Symbol:
    O43313-ATMIN_HUMAN
    Recommended name:
    ATM interactor
    Protein Accession:
    O43313
    Secondary Accessions:
    • A8K4H8
    • Q68DC9

    Protein attributes for ATMIN Gene

    Size:
    823 amino acids
    Molecular mass:
    88348 Da
    Quaternary structure:
    • Interacts via its C-terminus with ATM. Interacts with DYNLL1; this interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of its own promoter by ATMIN.
    SequenceCaution:
    • Sequence=BAA24861.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAF83632.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATMIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATMIN Gene

Post-translational modifications for ATMIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATMIN Gene

No data available for DME Specific Peptides for ATMIN Gene

Domains & Families for ATMIN Gene

Gene Families for ATMIN Gene

Protein Domains for ATMIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATMIN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATMIN: view

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

Function for ATMIN Gene

Molecular function for ATMIN Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.

Gene Ontology (GO) - Molecular Function for ATMIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17525732
GO:0044212 transcription regulatory region DNA binding IEA --
GO:0046872 metal ion binding IEA --
GO:0070840 dynein complex binding IPI 22167198
genes like me logo Genes that share ontologies with ATMIN: view
genes like me logo Genes that share phenotypes with ATMIN: view

Animal Models for ATMIN Gene

MGI Knock Outs for ATMIN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATMIN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATMIN Gene

Localization for ATMIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATMIN Gene

Nucleus. Note=Nuclear, in discrete foci during G1 phase.

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 ATMIN gene
Compartment Confidence
nucleus 5
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATMIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ATMIN: view

Pathways & Interactions for ATMIN Gene

genes like me logo Genes that share pathways with ATMIN: view

Pathways by source for ATMIN Gene

1 BioSystems pathway for ATMIN Gene

Gene Ontology (GO) - Biological Process for ATMIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0044458 motile cilium assembly IEA --
genes like me logo Genes that share ontologies with ATMIN: view

No data available for SIGNOR curated interactions for ATMIN Gene

Drugs & Compounds for ATMIN Gene

No Compound Related Data Available

Transcripts for ATMIN Gene

Unigene Clusters for ATMIN Gene

ATM interactor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATMIN

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: - -
SP2: - -
SP3: -

Relevant External Links for ATMIN Gene

GeneLoc Exon Structure for
ATMIN
ECgene alternative splicing isoforms for
ATMIN

Expression for ATMIN Gene

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

Protein differential expression in normal tissues from HIPED for ATMIN Gene

This gene is overexpressed in Fetal heart (69.0).

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



Protein tissue co-expression partners for ATMIN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATMIN Gene:

ATMIN

SOURCE GeneReport for Unigene cluster for ATMIN Gene:

Hs.16349

mRNA Expression by UniProt/SwissProt for ATMIN Gene:

O43313-ATMIN_HUMAN
Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle.

Evidence on tissue expression from TISSUES for ATMIN Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with ATMIN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATMIN Gene

Orthologs for ATMIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATMIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATMIN 35 34
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATMIN 34 35
  • 87.83 (n)
cow
(Bos Taurus)
Mammalia ATMIN 34 35
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Atmin 35 16 34
  • 81.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atmin 34
  • 81.07 (n)
oppossum
(Monodelphis domestica)
Mammalia ATMIN 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATMIN 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATMIN 35 34
  • 72.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATMIN 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atmin 34
  • 62.47 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC571606 34
  • 59.76 (n)
atmin 35
  • 52 (a)
OneToOne
Dr.19802 34
Species where no ortholog for ATMIN 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATMIN Gene

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

Paralogs for ATMIN Gene

(1) SIMAP similar genes for ATMIN Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ATMIN Gene

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

No data available for Paralogs for ATMIN Gene

Variants for ATMIN Gene

Sequence variations from dbSNP and Humsavar for ATMIN Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000208492 -- 81,035,723(+) TCCCT(C/T)CAAGG intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000710888 -- 81,047,836(+) AAAAA(A/G)AAAAG downstream-variant-500B
rs1000878749 -- 81,039,857(+) TCCAA(G/T)TTACT intron-variant, upstream-variant-2KB
rs1000928831 -- 81,037,271(+) AAATT(G/T)AGAGT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001231457 -- 81,035,569(+) AAACG(C/G)ATTGC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv356n27 CNV loss 19166990
dgv5246n54 CNV gain 21841781
dgv5247n54 CNV loss 21841781
esv2422360 CNV duplication 17116639
esv25835 CNV loss 19812545
esv3639306 CNV gain 21293372
nsv1062724 CNV gain 25217958
nsv1897 CNV deletion 18451855
nsv573338 CNV loss 21841781
nsv573345 CNV gain 21841781
nsv573346 CNV loss 21841781
nsv978005 CNV duplication 23825009

Variation tolerance for ATMIN Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.89; 79.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATMIN Gene

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

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

Disorders for ATMIN Gene

Relevant External Links for ATMIN

Genetic Association Database (GAD)
ATMIN
Human Genome Epidemiology (HuGE) Navigator
ATMIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATMIN

No disorders were found for ATMIN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATMIN Gene

Publications for ATMIN Gene

  1. ATMIN defines an NBS1-independent pathway of ATM signalling. (PMID: 17525732) Kanu N. … Behrens A. (EMBO J. 2007) 2 3 4 64
  2. ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage. (PMID: 15933716) McNees C.J. … Heierhorst J. (EMBO J. 2005) 2 3 4 64
  3. ATM substrate Chk2-interacting Zn2+ finger (ASCIZ) Is a bi-functional transcriptional activator and feedback sensor in the regulation of dynein light chain (DYNLL1) expression. (PMID: 22167198) Jurado S. … Heierhorst J. (J. Biol. Chem. 2012) 3 4 64
  4. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z. … Genest J. (Eur. J. Hum. Genet. 2010) 3 46 64
  5. ATMINistrating ATM signalling: regulation of ATM by ATMIN. (PMID: 19001856) Kanu N. … Behrens A. (Cell Cycle 2008) 2 3 64

Products for ATMIN Gene

  • Addgene plasmids for ATMIN

Sources for ATMIN Gene

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