Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10015
Gene name Gene Name - the full gene name approved by the HGNC.
Programmed cell death 6 interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDCD6IP
Synonyms (NCBI Gene) Gene synonyms aliases
AIP1, ALIX, DRIP4, HP95, MCPH29
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCPH29
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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, 18256029, 18434552, 18511562, 18641129, 18940611, 19706535, 20176808, 20670214, 21889351, 21911577, 21988832, 22484091, 22641034, 22660413, 23088713, 25118280, 25416956, 25667979, 25686249, 26496610, 31413325, 315
GO:0005815 Component Microtubule organizing center IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608074 8766 ENSG00000170248
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 18784066
Unknown
Disease term Disease name Evidence References Source
Microcephaly microcephaly 29, primary, autosomal recessive GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Inhibit 27150162
alpha 1 Antitrypsin Deficiency Autosomal Recessive Associate 25102091
Autistic Disorder Associate 37794117
Breast Neoplasms Associate 17591932, 26063962, 29348172
Carcinoma Non Small Cell Lung Associate 24870593, 37925421
Colorectal Neoplasms Inhibit 27150162
Death Associate 37794117
Depressive Disorder Major Associate 35821008
Epilepsy Post Traumatic Associate 29188495
Glioblastoma Associate 27770278