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ATF7IP activating transcription factor 7 interacting protein [ Homo sapiens (human) ]

Gene ID: 55729, updated on 11-Apr-2024

Summary

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Official Symbol
ATF7IPprovided by HGNC
Official Full Name
activating transcription factor 7 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:20092
See related
Ensembl:ENSG00000171681 MIM:613644; AllianceGenome:HGNC:20092
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
AM; MCAF; p621; MCAF1; ATF-IP; ATF7IP1
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 8.4), testis (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14365682..14502930)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14243190..14380441)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (14518616..14655864)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902883 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:14475712-14476212 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:14476213-14476713 Neighboring gene uncharacterized LOC124902884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:14518197-14519014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6046 Neighboring gene ribosomal protein L30 pseudogene 11 Neighboring gene Sharpr-MPRA regulatory region 5402 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:14658416-14659615 Neighboring gene uncharacterized LOC101928317 Neighboring gene phospholipase B domain containing 1 Neighboring gene RN7SK pseudogene 134

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ATF7IP regulates SETDB1 nuclear localization and increases its ubiquitination. Tsusaka T, et al. EMBO Rep, 2019 Dec 5. PMID 31576654, Free PMC Article
  2. Acute Lymphoblastic Leukemia Patient with Variant ATF7IP/PDGFRB Fusion and Favorable Response to Tyrosine Kinase Inhibitor Treatment: A Case Report. Zhang G, et al. Am J Case Rep, 2017 Nov 14. PMID 29133777, Free PMC Article
  3. Characterization of the Enzymatic Activity of SETDB1 and Its 1:1 Complex with ATF7IP. Basavapathruni A, et al. Biochemistry, 2016 Mar 22. PMID 26813693
  4. MCAF1 and Rta-activated BZLF1 transcription in Epstein-Barr virus. Lin TY, et al. PLoS One, 2014. PMID 24598729, Free PMC Article
  5. The transcriptional cofactor MCAF1/ATF7IP is involved in histone gene expression and cellular senescence. Sasai N, et al. PLoS One, 2013. PMID 23935871, Free PMC Article

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers.
    Title: Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers.
  2. ATF7IP promotes the nuclear localization of SETDB1.
    Title: ATF7IP regulates SETDB1 nuclear localization and increases its ubiquitination.
  3. Although these genes are normally expressed at low amounts in hESCs, HTT knockdown (KD) reduces their induction during neural differentiation. Notably, mutant expanded polyglutamine repeats in HTT diminish its interaction with ATF7IP-SETDB1 complex and trigger H3K9me3 in HD-iPSCs.
    Title: Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.
  4. Here we report on a special case of a Ph-like acute lymphoblastic leukemia patient who had a variant ATF7IP/PDGFRB fusion. In this case, a variant fusion was created between ATF7IP exon 9 (instead of exon 13) and PDGFRB exon 11, resulting in the loss of 411 nucleotides and 137 amino acids in the ATF7IP/PDGFRB fusion cDNA and its encoded chimeric protein, respectively.
    Title: Acute Lymphoblastic Leukemia Patient with Variant ATF7IP/PDGFRB Fusion and Favorable Response to Tyrosine Kinase Inhibitor Treatment: A Case Report.
  5. these data identify a critical functional role for ATF7IP in heterochromatin formation by regulating SETDB1 abundance in the nucleus.
    Title: ATF7IP-Mediated Stabilization of the Histone Methyltransferase SETDB1 Is Essential for Heterochromatin Formation by the HUSH Complex.
  6. results indicate that ATF7IP does not directly modulate SETDB1 catalytic activity, suggesting alternate roles, such as affecting cellular localization or mediating interaction with additional binding partners.
    Title: Characterization of the Enzymatic Activity of SETDB1 and Its 1:1 Complex with ATF7IP.
  7. these results indicate a critical role for MCAF1 in AP-1-dependent Rta activation of BZLF1 transcription.
    Title: MCAF1 and Rta-activated BZLF1 transcription in Epstein-Barr virus.
  8. We demonstrated the importance of Aire's interaction with the ATF7ip-MBD1 protein complex in maintaining central tolerance
    Title: The transcriptional regulator Aire coopts the repressive ATF7ip-MBD1 complex for the induction of immunotolerance.
  9. The transcriptional cofactor MCAF1/ATF7IP is involved in histone gene expression and cellular senescence.
    Title: The transcriptional cofactor MCAF1/ATF7IP is involved in histone gene expression and cellular senescence.
  10. Genetic variants at ATF7IP and KLK2 contribute to the variance of %fPSA.
    Title: Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.
EBI GWAS Catalog
Genome-wide association study of breast cancer in the Japanese population.
EBI GWAS Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
EBI GWAS Catalog
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10139, FLJ10688, FLJ43113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA methylation-dependent heterochromatin formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA methylation-dependent heterochromatin formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
activating transcription factor 7-interacting protein 1
Names
ATF-interacting protein
ATF7-interacting protein
ATFa-associated modulator
MBD1-containing chromatin-associated factor 1

NCBI Reference Sequences (RefSeq)

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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_001286514.2 → NP_001273443.1  activating transcription factor 7-interacting protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001273443.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains multiple differences in the 5' coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC008114, BC053625, BX648096, DA194386
    Consensus CDS
    CCDS66327.1
    UniProtKB/Swiss-Prot
    Q6VMQ6
    Related
    ENSP00000445955.1, ENST00000536444.5
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 549
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:819 → 1173
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:563 → 774
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1159 → 1259
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  2. NM_001286515.2 → NP_001273444.1  activating transcription factor 7-interacting protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001273444.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in both the 5' and 3' UTRs and contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC007782, AC008114, BC063855, DA194386
    Consensus CDS
    CCDS73449.1
    UniProtKB/Swiss-Prot
    Q6VMQ6
    Related
    ENSP00000443179.1, ENST00000543189.5
    Conserved Domains (2) summary
    PHA02664
    Location:126 → 282
    PHA02664; hypothetical protein; Provisional
    pfam16788
    Location:563 → 774
    ATF7IP_BD; ATF-interacting protein binding domain

  3. NM_001388179.1 → NP_001375108.1  activating transcription factor 7-interacting protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892
    Conserved Domains (5) summary
    PTZ00341
    Location:327 → 557
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:674 → 1165
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:571 → 782
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1167 → 1267
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:112 → 378
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  4. NM_001388180.1 → NP_001375109.1  activating transcription factor 7-interacting protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892
    Consensus CDS
    CCDS8663.1
    UniProtKB/Swiss-Prot
    F5GX74, G3V1U0, Q4G0T9, Q6P3T3, Q6VMQ6, Q86XW5, Q9NVJ9, Q9NWC2, Q9Y4X8
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 574
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:822 → 1158
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:564 → 775
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1160 → 1260
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  5. NM_001388181.1 → NP_001375110.1  activating transcription factor 7-interacting protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892
    Consensus CDS
    CCDS8663.1
    UniProtKB/Swiss-Prot
    F5GX74, G3V1U0, Q4G0T9, Q6P3T3, Q6VMQ6, Q86XW5, Q9NVJ9, Q9NWC2, Q9Y4X8
    Related
    ENSP00000444589.1, ENST00000540793.5
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 574
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:822 → 1158
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:564 → 775
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1160 → 1260
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  6. NM_001388182.1 → NP_001375111.1  activating transcription factor 7-interacting protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892
    Consensus CDS
    CCDS8663.1
    UniProtKB/Swiss-Prot
    F5GX74, G3V1U0, Q4G0T9, Q6P3T3, Q6VMQ6, Q86XW5, Q9NVJ9, Q9NWC2, Q9Y4X8
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 574
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:822 → 1158
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:564 → 775
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1160 → 1260
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  7. NM_001388183.1 → NP_001375112.1  activating transcription factor 7-interacting protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892
    Consensus CDS
    CCDS8663.1
    UniProtKB/Swiss-Prot
    F5GX74, G3V1U0, Q4G0T9, Q6P3T3, Q6VMQ6, Q86XW5, Q9NVJ9, Q9NWC2, Q9Y4X8
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 574
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:822 → 1158
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:564 → 775
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1160 → 1260
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  8. NM_001388184.1 → NP_001375113.1  activating transcription factor 7-interacting protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892
    Consensus CDS
    CCDS66327.1
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 549
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:819 → 1173
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:563 → 774
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1159 → 1259
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  9. NM_018179.5 → NP_060649.3  activating transcription factor 7-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_060649.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC008114, AK025060, AK027575, AK074868, BX648096
    Consensus CDS
    CCDS8663.1
    UniProtKB/Swiss-Prot
    F5GX74, G3V1U0, Q4G0T9, Q6P3T3, Q6VMQ6, Q86XW5, Q9NVJ9, Q9NWC2, Q9Y4X8
    Related
    ENSP00000261168.4, ENST00000261168.9
    Conserved Domains (5) summary
    PTZ00341
    Location:319 → 574
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PHA03247
    Location:822 → 1158
    PHA03247; large tegument protein UL36; Provisional
    pfam16788
    Location:564 → 775
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1160 → 1260
    fn3_4; Fibronectin-III type domain
    NF033845
    Location:104 → 370
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  10. NM_181352.2 → NP_851997.1  activating transcription factor 7-interacting 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)
    AC008114, AF425650, AY337596, BX648096, DC377662
    Consensus CDS
    CCDS66326.1
    UniProtKB/Swiss-Prot
    Q6VMQ6
    Related
    ENSP00000440440.1, ENST00000544627.5
    Conserved Domains (3) summary
    PHA02664
    Location:134 → 290
    PHA02664; hypothetical protein; Provisional
    pfam16788
    Location:572 → 783
    ATF7IP_BD; ATF-interacting protein binding domain
    pfam16794
    Location:1168 → 1268
    fn3_4; Fibronectin-III type domain

RNA

  1. NR_170893.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC007782, AC008114, AC124892

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    14365682..14502930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520756.4 → XP_011519058.1  activating transcription factor 7-interacting protein 1 isoform X2

    Conserved Domains (2) summary
    PHA02664
    Location:134 → 290
    PHA02664; hypothetical protein; Provisional
    pfam16788
    Location:572 → 783
    ATF7IP_BD; ATF-interacting protein binding domain

  2. XM_047429149.1 → XP_047285105.1  activating transcription factor 7-interacting protein 1 isoform X3

    Related
    ENST00000541654.1

  3. XM_047429150.1 → XP_047285106.1  activating transcription factor 7-interacting protein 1 isoform X4

  4. XM_047429148.1 → XP_047285104.1  activating transcription factor 7-interacting protein 1 isoform X1

    UniProtKB/Swiss-Prot
    F5GX74, G3V1U0, Q4G0T9, Q6P3T3, Q6VMQ6, Q86XW5, Q9NVJ9, Q9NWC2, Q9Y4X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    14243190..14380441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372551.1 → XP_054228526.1  activating transcription factor 7-interacting protein 1 isoform X2

  2. XM_054372552.1 → XP_054228527.1  activating transcription factor 7-interacting protein 1 isoform X3

  3. XM_054372553.1 → XP_054228528.1  activating transcription factor 7-interacting protein 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6VMQ6.3 GenPept UniProtKB/Swiss-Prot:Q6VMQ6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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