Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54467
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and IBR domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKIB1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018457 hsa-miR-335-5p Microarray 18185580
MIRT002805 hsa-miR-1-3p Microarray 15685193
MIRT002805 hsa-miR-1-3p Microarray 18668037
MIRT050234 hsa-miR-25-3p CLASH 23622248
MIRT621027 hsa-miR-5582-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 20195357
GO:0005737 Component Cytoplasm IBA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620069 22215 ENSG00000001629
Protein
UniProt ID Q9P2G1
Protein name Ankyrin repeat and IBR domain-containing protein 1 (EC 2.3.2.31)
Protein function Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 46 77 Ankyrin repeat Repeat
PF00023 Ank 145 176 Ankyrin repeat Repeat
PF01485 IBR 402 478 IBR domain, a half RING-finger domain Domain
PF01485 IBR 501 560 IBR domain, a half RING-finger domain Domain
Sequence
MGNTTTKFRKALINGDENLACQIYENNPQLKESLDPNTSYGEPYQHNTPLHYAARHGMNK
ILGTFLGRDGNPNKRNV
HNETSMHLLCMGPQIMISEGALHPRLARPTEDDFRRADCLQMI
LKWKGAKLDQGEYERAAIDAVDNKKNTPLHYAAASGMKACVELLVKHGGDLFAENENKDT
PCDCAEKQHHKDLALNLESQMVFSRDPEAEEIEAEYAALDKREPYEGLRPQDLRRLKDML
IVETADMLQAPLFTAEALLRAHDWDREKLLEAWMSNPENCCQRSGVQMPTPPPSGYNAWD
TLPSPRTPRTTRSSVTSPDEISLSPGDLDTSLCDICMCSISVFEDPVDMPCGHDFCRGCW
ESFLNLKIQEGEAHNIFCPAYDCFQLVPVDIIESVVSKEMDKRYLQFDIKAFVENNPAIK
WCPTPGCDRAVRLTKQGSNTSGSDTLSFPLLRAPAVDCGKGHLFCWECLGEAHEPCDC
QT
WKNWLQKITEMKPEELVGVSEAYEDAANCLWLLTNSKPCANCKSPIQKNEGCNHMQCAKC
KYDFCWICLEEWKKHSSSTG
GYYRCTRYEVIQHVEEQSKEMTVEAEKKHKRFQELDRFMH
YYTRFKNHEHSYQLEQRLLKTAKEKMEQLSRALKETEGGCPDTTFIEDAVHVLLKTRRIL
KCSYPYGFFLEPKSTKKEIFELMQTDLEMVTEDLAQKVNRPYLRTPRHKIIKAACLVQQK
RQEFLASVARGVAPADSPEAPRRSFAGGTWDWEYLGFASPEEYAEFQYRRRHRQRRRGDV
HSLLSNPPDPDEPSESTLDIPEGGSSSRRPGTSVVSSASMSVLHSSSLRDYTPASRSENQ
DSLQALSSLDEDDPNILLAIQLSLQESGLALDEETRDFLSNEASLGAIGTSLPSRLDSVP
RNTDSPRAALSSSELLELGDSLMRLGAENDPFSTDTLSSHPLSEARSDFCPSSSDPDSAG
QDPNINDNLLGNIMAWFHDMNPQSIALIPPATTEISADSQLPCIKDGSEGVKDVELVLPE
DSMFEDASVSEGRGTQIEENPLEENILAGEAASQAGDSGNEAANRGDGSDVSSQTPQTSS
DWLEQVHLV
Sequence length 1089
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33878365
Disease Associate 37337823
Hypoxia Associate 37549012
Osteosarcoma Associate 35264070
Wounds and Injuries Associate 37549012