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

Gene ID: 55729, updated on 4-Jul-2021

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
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
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

See ATF7IP in Genome Data Viewer
Location:
12p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (14365640..14502935)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (14518616..14655864)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr12.662 Neighboring gene ribosomal protein L30 pseudogene 11 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

Associated conditions

Description Tests
Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.
GeneReviews: Not available
Genome-wide association study of breast cancer in the Japanese population.
GeneReviews: Not available
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
GeneReviews: Not available
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10139, FLJ10688, FLJ43113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
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
 
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 IEA
Inferred from Electronic Annotation
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)

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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_001286514.2NP_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
    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
    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
    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
    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
    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
    Q6VMQ6
    UniProtKB/TrEMBL
    A0A024RAY1, B3KNI7, B3KQF8
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    14365640..14502935
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520756.3XP_011519058.1  activating transcription factor 7-interacting protein 1 isoform X4

    Conserved Domains (2) summary
    PHA02664
    Location:134290
    PHA02664; hypothetical protein; Provisional
    pfam16788
    Location:572783
    ATF7IP_BD; ATF-interacting protein binding domain
  2. XM_006719109.3XP_006719172.1  activating transcription factor 7-interacting protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006719172.1

    UniProtKB/Swiss-Prot
    Q6VMQ6
    UniProtKB/TrEMBL
    A0A024RAY1
    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

RNA

  1. XR_001748809.2 RNA Sequence

    Related
    ENST00000537653.5
  2. XR_001748806.2 RNA Sequence

    Related
    ENST00000541654.1
  3. XR_001748807.2 RNA Sequence

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