ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] See more...

Aliases for ATF7IP Gene

Aliases for ATF7IP Gene

  • Activating Transcription Factor 7 Interacting Protein 2 3 5
  • Activating Transcription Factor 7-Interacting Protein 1 3 4
  • MBD1-Containing Chromatin-Associated Factor 1 3 4
  • ATFa-Associated Modulator 3 4
  • ATF7-Interacting Protein 3 4
  • ATF-Interacting Protein 3 4
  • ATF-IP 3 4
  • MCAF1 3 4
  • P621 3 4
  • MCAF 3 4
  • HAM 4
  • AM 3

External Ids for ATF7IP Gene

Previous GeneCards Identifiers for ATF7IP Gene

  • GC12P014317
  • GC12P014663
  • GC12P014418
  • GC12P014468
  • GC12P014409
  • GC12P014518

Summaries for ATF7IP Gene

Entrez Gene Summary for ATF7IP Gene

  • ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]

GeneCards Summary for ATF7IP Gene

ATF7IP (Activating Transcription Factor 7 Interacting Protein) is a Protein Coding gene. Diseases associated with ATF7IP include Testicular Germ Cell Cancer and Germ Cell Cancer. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include ATPase activity and transcription corepressor activity. An important paralog of this gene is ATF7IP2.

UniProtKB/Swiss-Prot Summary for ATF7IP Gene

  • Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1 (PubMed:12665582). Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) (PubMed:14536086, PubMed:27732843). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells (PubMed:19106100).

Gene Wiki entry for ATF7IP Gene

Additional gene information for ATF7IP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATF7IP Gene

Genomics for ATF7IP Gene

GeneHancer (GH) Regulatory Elements for ATF7IP Gene

Promoters and enhancers for ATF7IP 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 ATF7IP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATF7IP

Top Transcription factor binding sites by QIAGEN in the ATF7IP gene promoter:
  • AML1a
  • Elk-1
  • Hlf
  • Lmo2
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • YY1
  • ZID

Genomic Locations for ATF7IP Gene

Genomic Locations for ATF7IP Gene
chr12:14,365,632-14,502,935
(GRCh38/hg38)
Size:
137,304 bases
Orientation:
Plus strand
chr12:14,518,610-14,651,697
(GRCh37/hg19)
Size:
133,088 bases
Orientation:
Plus strand

Genomic View for ATF7IP Gene

Genes around ATF7IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATF7IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATF7IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATF7IP Gene

Proteins for ATF7IP Gene

  • Protein details for ATF7IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6VMQ6-MCAF1_HUMAN
    Recommended name:
    Activating transcription factor 7-interacting protein 1
    Protein Accession:
    Q6VMQ6
    Secondary Accessions:
    • F5GX74
    • G3V1U0
    • Q4G0T9
    • Q6P3T3
    • Q86XW5
    • Q9NVJ9
    • Q9NWC2
    • Q9Y4X8

    Protein attributes for ATF7IP Gene

    Size:
    1270 amino acids
    Molecular mass:
    136394 Da
    Quaternary structure:
    • Interacts with MBD1; the interaction is enhanced when MBD1 is sumoylated (PubMed:12665582, PubMed:16757475). Interacts with SETDB1; the interaction protects SETDB1 from proteasomal degradation and is required to stimulate histone methyltransferase activity and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9' (PubMed:14536086, PubMed:15691849, PubMed:27732843). Interacts with SUMO ubiquitin-like proteins (SUMO1, SUNO2 and SUMO3), with a preference for SUMO2 and SUMO3 (PubMed:16757475, PubMed:18842587). Interacts with SP1, ATF7 and ZHX1 (PubMed:10976766, PubMed:12659632, PubMed:19106100). Interacts with the general transcription machinery, including ERCC2, ERCC3, GTF2E1, GTF2E2 and POLR2A (PubMed:19106100).
    • (Microbial infection) Interacts with Epstein-Barr virus BRLF1/Rta protein, leading to the regulation of host genes in Epstein-Barr virus-infected cells.
    SequenceCaution:
    • Sequence=AAH37312.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AK001001; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AK001001; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA91751.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATF7IP Gene

    Alternative splice isoforms for ATF7IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATF7IP Gene

Post-translational modifications for ATF7IP Gene

  • Ubiquitination at Lys568, Lys597, and Lys645
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATF7IP Gene

Domains & Families for ATF7IP Gene

Gene Families for ATF7IP Gene

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

Protein Domains for ATF7IP Gene

Suggested Antigen Peptide Sequences for ATF7IP Gene

GenScript: Design optimal peptide antigens:
  • P621 (MCAF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6VMQ6

UniProtKB/Swiss-Prot:

MCAF1_HUMAN :
  • Belongs to the MCAF family.
Family:
  • Belongs to the MCAF family.
genes like me logo Genes that share domains with ATF7IP: view

Function for ATF7IP Gene

Molecular function for ATF7IP Gene

UniProtKB/Swiss-Prot Function:
Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1 (PubMed:12665582). Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) (PubMed:14536086, PubMed:27732843). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells (PubMed:19106100).

Phenotypes From GWAS Catalog for ATF7IP Gene

Gene Ontology (GO) - Molecular Function for ATF7IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IEA --
GO:0005515 protein binding IEA,IPI 12665582
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ATF7IP: view
genes like me logo Genes that share phenotypes with ATF7IP: view

Animal Model Products

CRISPR Products

miRNA for ATF7IP Gene

miRTarBase miRNAs that target ATF7IP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATF7IP Gene

Localization for ATF7IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATF7IP 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 ATF7IP gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATF7IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 27732843
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005829 cytosol IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ATF7IP: view

Pathways & Interactions for ATF7IP Gene

genes like me logo Genes that share pathways with ATF7IP: view

Pathways by source for ATF7IP Gene

Gene Ontology (GO) - Biological Process for ATF7IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006306 DNA methylation IDA 12665582
GO:0016032 viral process IEA --
GO:0031647 regulation of protein stability IMP 27732843
GO:0045892 negative regulation of transcription, DNA-templated IDA 12665582
genes like me logo Genes that share ontologies with ATF7IP: view

No data available for SIGNOR curated interactions for ATF7IP Gene

Drugs & Compounds for ATF7IP Gene

No Compound Related Data Available

Transcripts for ATF7IP Gene

mRNA/cDNA for ATF7IP Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATF7IP Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g · 9h · 9i ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - - -
SP2:
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - -
SP6:
SP7: - - - - - - -
SP8: - -
SP9: - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - -
SP12: - - - -
SP13: -

ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b
SP1: - - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ATF7IP Gene

GeneLoc Exon Structure for
ATF7IP

Expression for ATF7IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATF7IP Gene

Protein differential expression in normal tissues from HIPED for ATF7IP Gene

This gene is overexpressed in Amniocyte (61.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATF7IP Gene



Protein tissue co-expression partners for ATF7IP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATF7IP

SOURCE GeneReport for Unigene cluster for ATF7IP Gene:

Hs.591151

mRNA Expression by UniProt/SwissProt for ATF7IP Gene:

Q6VMQ6-MCAF1_HUMAN
Tissue specificity: Detected at low levels in breast, lung and stomach; highly up-regulated in the corresponding cancerous tissues (at protein level).

Evidence on tissue expression from TISSUES for ATF7IP Gene

  • Nervous system(4.7)
  • Intestine(4.4)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with ATF7IP: view

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 ATF7IP Gene

Orthologs for ATF7IP Gene

This gene was present in the common ancestor of animals.

Orthologs for ATF7IP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATF7IP 31 30
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATF7IP 31 30
  • 90.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATF7IP 31 30
  • 88.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atf7ip 30
  • 79.95 (n)
mouse
(Mus musculus)
Mammalia Atf7ip 17 31 30
  • 79.7 (n)
oppossum
(Monodelphis domestica)
Mammalia ATF7IP 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATF7IP 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATF7IP 31 30
  • 71.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATF7IP 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atf7ip 30
  • 63.88 (n)
Str.10534 30
zebrafish
(Danio rerio)
Actinopterygii atf7ip 31
  • 31 (a)
OneToOne
wufa12g02 30
fruit fly
(Drosophila melanogaster)
Insecta wde 31
  • 13 (a)
OneToMany
Species where no ortholog for ATF7IP 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)
  • 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 ATF7IP Gene

ENSEMBL:
Gene Tree for ATF7IP (if available)
TreeFam:
Gene Tree for ATF7IP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATF7IP: view image

Paralogs for ATF7IP Gene

Paralogs for ATF7IP Gene

(1) SIMAP similar genes for ATF7IP Gene using alignment to 18 proteins:

  • MCAF1_HUMAN
  • A8MV73_HUMAN
  • F5GX74_HUMAN
  • F5GYR7_HUMAN
  • F5GZ10_HUMAN
  • F5GZ98_HUMAN
  • F5H1K9_HUMAN
  • F5H221_HUMAN
  • F5H2H9_HUMAN
  • F5H2W9_HUMAN
  • F5H3C4_HUMAN
  • F5H502_HUMAN
  • F5H592_HUMAN
  • F5H6X8_HUMAN
  • F5H8I0_HUMAN
  • F8WE35_HUMAN
  • G3V1U0_HUMAN
  • H0YFA3_HUMAN
genes like me logo Genes that share paralogs with ATF7IP: view

Variants for ATF7IP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATF7IP Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2231908 - p.Glu278Lys
rs2231909 - p.Asn348Ile
rs3213764 - p.Lys530Arg

Additional dbSNP identifiers (rs#s) for ATF7IP Gene

Structural Variations from Database of Genomic Variants (DGV) for ATF7IP Gene

Variant ID Type Subtype PubMed ID
dgv1393n100 CNV gain 25217958
dgv2389n54 CNV gain 21841781
esv22134 CNV gain 19812545
nsv1047428 CNV loss 25217958
nsv1121486 CNV deletion 24896259
nsv469119 CNV gain 19166990
nsv470269 CNV gain 18288195
nsv528068 CNV gain 19592680
nsv557608 CNV gain 21841781
nsv557611 CNV gain 21841781
nsv832335 CNV loss 17160897
nsv951331 CNV duplication 24416366
nsv951332 CNV duplication 24416366

Variation tolerance for ATF7IP Gene

Residual Variation Intolerance Score: 8.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.76; 98.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATF7IP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATF7IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATF7IP Gene

Disorders for ATF7IP Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATF7IP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
testicular germ cell cancer
  • testicular germ cell tumor
germ cell cancer
  • germ cell neoplasm
testicular cancer
  • childhood neoplasm of the testis
alpha thalassemia-intellectual disability syndrome type 1
  • alpha-thalassemia/mental retardation syndrome, deletion-type
cryptorchidism, unilateral or bilateral
  • undescended testis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATF7IP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATF7IP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATF7IP Gene

Publications for ATF7IP Gene

  1. MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. (PMID: 19106100) Liu L … Nakao M (The Journal of biological chemistry 2009) 3 4 23 54
  2. Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins. (PMID: 15691849) Ichimura T … Nakao M (The Journal of biological chemistry 2005) 3 4 23 54
  3. A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening. (PMID: 10976766) Gunther M … Brison O (Molecular and cellular biochemistry 2000) 2 3 4 54
  4. ATF7IP-Mediated Stabilization of the Histone Methyltransferase SETDB1 Is Essential for Heterochromatin Formation by the HUSH Complex. (PMID: 27732843) Timms RT … Lehner PJ (Cell reports 2016) 3 4 54
  5. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. (PMID: 20543847) Turnbull C … UK Testicular Cancer Collaboration (Nature genetics 2010) 3 41 54

Products for ATF7IP Gene

Sources for ATF7IP Gene