Gene Gene information from NCBI Gene database.
Entrez ID 10015
Gene name Programmed cell death 6 interacting protein
Gene symbol PDCD6IP
Synonyms (NCBI Gene)
AIP1ALIXDRIP4HP95MCPH29
Chromosome 3
Chromosome location 3p22.3
Summary This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this prote
miRNA miRNA information provided by mirtarbase database.
323
miRTarBase ID miRNA Experiments Reference
MIRT000888 hsa-miR-15a-5p Microarray 18362358
MIRT000887 hsa-miR-16-5p Microarray 18362358
MIRT050434 hsa-miR-23a-3p CLASH 23622248
MIRT049273 hsa-miR-92a-3p CLASH 23622248
MIRT046335 hsa-miR-23b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IBA
GO:0000281 Process Mitotic cytokinesis IDA 18641129
GO:0000915 Process Actomyosin contractile ring assembly ISS
GO:0001772 Component Immunological synapse IDA 19706535
GO:0005515 Function Protein binding IPI 11883939, 12860994, 14505570, 14519844, 17196169, 17350572, 17853893, 18434552, 18511562, 18641129, 18940611, 19706535, 20176808, 20670214, 21889351, 21911577, 21988832, 22484091, 22641034, 22660413, 23088713, 25118280, 25416956, 25667979, 25686249, 26496610, 31413325, 31515488, 352
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608074 8766 ENSG00000170248
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUM4
Protein name Programmed cell death 6-interacting protein (PDCD6-interacting protein) (ALG-2-interacting protein 1) (ALG-2-interacting protein X) (Hp95)
Protein function Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of
PDB 2OEV , 2OEW , 2OEX , 2OJQ , 2R02 , 2R03 , 2R05 , 2XS1 , 2XS8 , 2ZNE , 3C3O , 3C3Q , 3C3R , 3E1R , 3WUV , 4JJY , 5V3R , 5WA1 , 6KP3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03097 BRO1 4 378 BRO1-like domain Domain
PF13949 ALIX_LYPXL_bnd 412 701 ALIX V-shaped domain binding to HIV Domain
Sequence
MATFISVQLKKTSEVDLAKPLVKFIQQTYPSGGEEQAQYCRAAEELSKLRRAAVGRPLDK
HEGALETLLRYYDQICSIEPKFPFSENQICLTFTWKDAFDKGSLFGGSVKLALASLGYEK
SCVLFNCAALASQIAAEQNLDNDEGLKIAAKHYQFASGAFLHIKETVLSALSREPTVDIS
PDTVGTLSLIMLAQAQEVFFLKATRDKMKDAIIAKLANQAADYFGDAFKQCQYKDTLPKE
VFPVLAAKHCIMQANAEYHQSILAKQQKKFGEEIARLQHAAELIKTVASRYDEYVNVKDF
SDKINRALAAAKKDNDFIYHDRVPDLKDLDPIGKATLVKSTPVNVPISQKFTDLFEKMVP
VSVQQSLAAYNQRKADLV
NRSIAQMREATTLANGVLASLNLPAAIEDVSGDTVPQSILTK
SRSVIEQGGIQTVDQLIKELPELLQRNREILDESLRLLDEEEATDNDLRAKFKERWQRTP
SNELYKPLRAEGTNFRTVLDKAVQADGQVKECYQSHRDTIVLLCKPEPELNAAIPSANPA
KTMQGSEVVNVLKSLLSNLDEVKKEREGLENDLKSVNFDMTSKFLTALAQDGVINEEALS
VTELDRVYGGLTTKVQESLKKQEGLLKNIQVSHQEFSKMKQSNNEANLREEVLKNLATAY
DNFVELVANLKEGTKFYNELTEILVRFQNKCSDIVFARKTE
RDELLKDLQQSIAREPSAP
SIPTPAYQSSPAGGHAPTPPTPAPRTMPPTKPQPPARPPPPVLPANRAPSATAPSPVGAG
TAAPAPSQTPGSAPPPQAQGPPYPTYPGYPGYCQMPMPMGYNPYAYGQYNMPYPPVYHQS
PGQAPYPGPQQPSYPFPQPPQQSYYPQQ
Sequence length 868
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1
Virion - Hepatitis viruses
Endocytosis
  Budding and maturation of HIV virion
Uptake and function of anthrax toxins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcephaly 29, primary, autosomal recessive Pathogenic rs2491384447 RCV002285037
★★★★☆
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
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY 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
Adenoma Adenoma BEFREE 27150162
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27714968
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 21700930, 25732743, 29731721, 30471213, 31619063
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25732743, 29731721
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 37794117 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26063962, 26139244, 30021161
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17591932, 26063962, 29348172 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22046421
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 25732743
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 28348580
★☆☆☆☆
Found in Text Mining only