Gene Gene information from NCBI Gene database.
Entrez ID 55729
Gene name Activating transcription factor 7 interacting protein
Gene symbol ATF7IP
Synonyms (NCBI Gene)
AMATF-IPATF7IP1MCAFMCAF1p621
Chromosome 12
Chromosome location 12p13.1
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]
miRNA miRNA information provided by mirtarbase database.
317
miRTarBase ID miRNA Experiments Reference
MIRT046291 hsa-miR-23b-3p CLASH 23622248
MIRT044675 hsa-miR-320a CLASH 23622248
MIRT037643 hsa-miR-744-5p CLASH 23622248
MIRT036221 hsa-miR-320b CLASH 23622248
MIRT568427 hsa-miR-548c-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003712 Function Transcription coregulator activity IBA
GO:0003712 Function Transcription coregulator activity IDA 12665582
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 12665582, 12812986, 26275350, 27732843, 32296183, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613644 20092 ENSG00000171681
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6VMQ6
Protein name Activating transcription factor 7-interacting protein 1 (ATF-interacting protein) (ATF-IP) (ATF7-interacting protein) (ATFa-associated modulator) (hAM) (MBD1-containing chromatin-associated factor 1) (P621)
Protein 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-med
PDB 2RPQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16788 ATF7IP_BD 564 779 ATF-interacting protein binding domain Family
PF16794 fn3_4 1159 1260 Fibronectin-III type domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in breast, lung and stomach; highly up-regulated in the corresponding cancerous tissues (at protein level). {ECO:0000269|PubMed:19106100}.
Sequence
MDSLEEPQKKVFKARKTMRVSDRQQLEAVYKVKEELLKTDVKLLNGNHENGDLDPTSPLE
NMDYIKDKEEVNGIEEICFDPEGSKAEWKETPCILSVNVKNKQDDDLNCEPLSPHNITPE
PVSKLPAEPVSGDPAPGDLDAGDPASGVLASGDSTSGDPTSSEPSSSDAASGDATSGDAP
SGDVSPGDATSGDATADDLSSGDPTSSDPIPGEPVPVEPISGDCAADDIASSEITSVDLA
SGAPASTDPASDDLASGDLSSSELASDDLATGELASDELTSESTFDRTFEPKSVPVCEPV
PEIDNIEPSSNKDDDFLEKNGADEKLEQIQSKDSLDEKNKADNNIDANEETLETDDTTIC
SDRPPENEKKVEEDIITELALGEDAISSSMEIDQGEKNEDETSADLVETINENVIEDNKS
ENILENTDSMETDEIIPILEKLAPSEDELTCFSKTSLLPIDETNPDLEEKMESSFGSPSK
QESSESLPKEAFLVLSDEEDISGEKDESEVISQNETCSPAEVESNEKDNKPEEEEQVIHE
DDERPSEKNEFSRRKRSKSEDMDNVQSKRRRYMEEEYEAEFQVKITAKGDINQKLQKVIQ
WLLEEKLCALQCAVFDKTLAELKTRVEKIECNKRHKTVLTELQAKIARLTKRFEAAKEDL
KKRHEHPPNPPVSPGKTVNDVNSNNNMSYRNAGTVRQMLESKRNVSESAPPSFQTPVNTV
SSTNLVTPPAVVSSQPKLQTPVTSGSLTATSVLPAPNTATVVATTQVPSGNPQPTISLQ
P
LPVILHVPVAVSSQPQLLQSHPGTLVTNQPSGNVEFISVQSPPTVSGLTKNPVSLPSLPN
PTKPNNVPSVPSPSIQRNPTASAAPLGTTLAVQAVPTAHSIVQATRTSLPTVGPSGLYSP
STNRGPIQMKIPISAFSTSSAAEQNSNTTPRIENQTNKTIDASVSKKAADSTSQCGKATG
SDSSGVIDLTMDDEESGASQDPKKLNHTPVSTMSSSQPVSRPLQPIQPAPPLQPSGVPTS
GPSQTTIHLLPTAPTTVNVTHRPVTQVTTRLPVPRAPANHQVVYTTLPAPPAQAPLRGTV
MQAPAVRQVNPQNSVTVRVPQTTTYVVNNGLTLGSTGPQLTVHHRPPQVHTEPPRPVHPA
PLPEAPQPQRLPPEAASTSLPQKPHLKLARVQSQNGIVLSWSVLEVDRSCATVDSYHLYA
YHEEPSATVPSQWKKIGEVKALPLPMACTLTQFVSGSKYYFAVRAKDIYGRFGPFCDPQS

TDVISSTQSS
Sequence length 1270
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    PKMTs methylate histone lysines
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 24628626
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 8592656
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 10738680, 10756004, 11244044, 11485622, 11559817, 11846984, 12469209, 12626894, 12706085, 12708749, 1498321, 15310405, 15494269, 16155606, 16595374
View all (48 more)
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 29501990
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31468286
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 27702411
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 35175239 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 18054208, 23586533, 23986266, 28276950, 28357969, 28390063, 28483085, 28535332, 28564628, 28684258, 28992526, 29308937, 29380275, 29558528, 29575009
View all (11 more)
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 18054208, 23586533, 23986266, 28276950, 28357969, 28390063, 28483085, 28535332, 28564628, 28684258, 28992526, 29308937, 29380275, 29558528, 29575009
View all (11 more)
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 26712781, 9491917
★☆☆☆☆
Found in Text Mining only