Aliases for ATMIN Gene

Aliases for ATMIN Gene

  • ATM Interactor 2 3 4 5
  • ZNF822 2 3 4
  • ASCIZ 2 3 4
  • 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
  • KIAA0431 2 4
  • ATM/ATR-Substrate CHEK2-Interacting Zinc Finger Protein 3
  • ATMIN 5

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. Diseases associated with ATMIN include Giant Axonal Neuropathy 1, Autosomal Recessive. Among its related pathways are ATM Signaling Network in Development and Disease. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding. An important paralog of this gene is RIOK1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ATMIN Gene

Genomics for ATMIN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATMIN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATMIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATMIN

Top Transcription factor binding sites by QIAGEN in the ATMIN gene promoter:
  • CUTL1
  • Egr-1
  • Egr-4
  • GR
  • GR-alpha
  • GR-beta
  • ISGF-3
  • Olf-1
  • RFX1
  • STAT5A

Genomic Locations for ATMIN Gene

Latest Assembly
chr16:81,035,842-81,047,350
(GRCh38/hg38)
Size:
11,509 bases
Orientation:
Plus strand

Previous Assembly
chr16:81,069,447-81,080,955
(GRCh37/hg19 by Entrez Gene)
Size:
11,509 bases
Orientation:
Plus strand

chr16:81,069,452-81,080,963
(GRCh37/hg19 by Ensembl)
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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAF83632.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Antibodies for research

  • Boster Bio Antibodies for ATMIN

No data available for DME Specific Peptides for ATMIN Gene

Domains & Families for ATMIN Gene

Gene Families for ATMIN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATMIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATMIN Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 822 (ATMIN_HUMAN)
  • ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein, isoform CRA_b (D3DUL0_HUMAN)
genes like me logo Genes that share domains with ATMIN: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for ATMIN Gene

Gene Ontology (GO) - Molecular Function for ATMIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS --
GO:0005515 protein binding IPI 17525732
GO:0046872 metal ion binding IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATMIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ATMIN: view

Pathways & Interactions for ATMIN Gene

PathCards logo

SuperPathways 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:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0044458 motile cilium assembly IEA --
GO:0045893 positive regulation of transcription, DNA-templated IDA 22167198
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

mRNA/cDNA for ATMIN Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for ATMIN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for ATMIN Gene



Protein tissue co-expression partners for ATMIN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • Liver(4.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ATMIN: view

Primer products for research

No data available for 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 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATMIN 30 31
  • 87.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATMIN 30 31
  • 86.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atmin 30 17 31
  • 81.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atmin 30
  • 81.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATMIN 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATMIN 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATMIN 30 31
  • 72.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATMIN 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atmin 30
  • 62.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC571606 30
  • 59.76 (n)
atmin 31
  • 52 (a)
OneToOne
Dr.19802 30
Species where no ortholog for ATMIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ATMIN: view image

Paralogs for ATMIN Gene

Paralogs for ATMIN Gene

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

  • ATMIN_HUMAN
  • J3QRX7_HUMAN

Pseudogenes.org Pseudogenes for ATMIN Gene

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

Variants for ATMIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATMIN Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs2278022 - p.Ser240Pro
rs2278023 - p.Lys305Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATMIN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ATMIN Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ATMIN Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATMIN Gene - From: CVR

Disorder Aliases PubMed IDs
giant axonal neuropathy 1, autosomal recessive
  • gan1
- elite association - COSMIC cancer census association via MalaCards
Search ATMIN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATMIN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATMIN: view

No data available for 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 (The EMBO journal 2007) 2 3 4
  2. ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage. (PMID: 15933716) McNees CJ … Heierhorst J (The EMBO journal 2005) 2 3 4
  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 (The Journal of biological chemistry 2012) 3 4
  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 (European journal of human genetics : EJHG 2010) 3 41
  5. ATMINistrating ATM signalling: regulation of ATM by ATMIN. (PMID: 19001856) Kanu N … Behrens A (Cell cycle (Georgetown, Tex.) 2008) 2 3

Products for ATMIN Gene

Sources for ATMIN Gene