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

    Gene ID: 55729, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001286514.2NP_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:319549
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8191173
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:563774
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11591259
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    2. NM_001286515.2NP_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:126282
      PHA02664; hypothetical protein; Provisional
      pfam16788
      Location:563774
      ATF7IP_BD; ATF-interacting protein binding domain
    3. NM_001388179.1NP_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:327557
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:6741165
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:571782
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11671267
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:112378
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    4. NM_001388180.1NP_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:319574
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8221158
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:564775
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11601260
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    5. NM_001388181.1NP_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:319574
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8221158
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:564775
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11601260
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    6. NM_001388182.1NP_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:319574
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8221158
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:564775
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11601260
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    7. NM_001388183.1NP_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:319574
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8221158
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:564775
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11601260
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    8. NM_001388184.1NP_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:319549
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8191173
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:563774
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11591259
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    9. NM_018179.5NP_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:319574
      PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
      PHA03247
      Location:8221158
      PHA03247; large tegument protein UL36; Provisional
      pfam16788
      Location:564775
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11601260
      fn3_4; Fibronectin-III type domain
      NF033845
      Location:104370
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    10. NM_181352.2NP_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:134290
      PHA02664; hypothetical protein; Provisional
      pfam16788
      Location:572783
      ATF7IP_BD; ATF-interacting protein binding domain
      pfam16794
      Location:11681268
      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_011520756.4XP_011519058.1  activating transcription factor 7-interacting protein 1 isoform X2

      Conserved Domains (2) summary
      PHA02664
      Location:134290
      PHA02664; hypothetical protein; Provisional
      pfam16788
      Location:572783
      ATF7IP_BD; ATF-interacting protein binding domain
    2. XM_047429149.1XP_047285105.1  activating transcription factor 7-interacting protein 1 isoform X3

      UniProtKB/TrEMBL
      B4E2A2
      Related
      ENST00000541654.1
    3. XM_047429150.1XP_047285106.1  activating transcription factor 7-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      B4E2A2
    4. XM_047429148.1XP_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_054372551.1XP_054228526.1  activating transcription factor 7-interacting protein 1 isoform X2

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

      UniProtKB/TrEMBL
      B4E2A2
    3. XM_054372553.1XP_054228528.1  activating transcription factor 7-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      B4E2A2