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

    Gene ID: 55729, updated on 27-Dec-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
    mouse all
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    Genomic context

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    See ATF7IP in Genome Data Viewer
    Location:
    12p13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14365682..14502930)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14243190..14380441)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. 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
    4. Structure of the small ubiquitin-like modifier (SUMO)-interacting motif of MBD1-containing chromatin-associated factor 1 bound to SUMO-3. Sekiyama N, et al. J Biol Chem, 2008 Dec 19. PMID 18842587
    5. MCAF1 and Rta-activated BZLF1 transcription in Epstein-Barr virus. Lin TY, et al. PLoS One, 2014. PMID 24598729, Free PMC Article

    See all (65) 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)

    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 DNA methylation-dependent constitutive heterochromatin formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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

      UniProtKB/TrEMBL
      B4E2A2
      Related
      ENST00000541654.1

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

      UniProtKB/TrEMBL
      B4E2A2

    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

      UniProtKB/TrEMBL
      B4E2A2

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

      UniProtKB/TrEMBL
      B4E2A2
    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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