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KANK1 (KN motif and ankyrin repeat domains 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23189
Gene nameGene Name - the full gene name approved by the HGNC.
KN motif and ankyrin repeat domains 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KANK1
SynonymsGene synonyms aliases
ANKRD15, CPSQ2, KANK
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor fo
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs372628779 C>G,T Likely-pathogenic Synonymous variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004930 hsa-miR-124-3p Microarray 15685193
MIRT017826 hsa-miR-335-5p Microarray 18185580
MIRT004930 hsa-miR-124-3p Microarray 18668037
MIRT004930 hsa-miR-124-3p Microarray 15685193
MIRT048597 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16968744, 18458160, 19171758, 19559006, 22084092, 26496610
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 12133830
GO:0005856 Component Cytoskeleton IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q14678
Protein name KN motif and ankyrin repeat domain-containing protein 1 (Ankyrin repeat domain-containing protein 15) (Kidney ankyrin repeat-containing protein)
Protein function Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis (PubMed:22084092, PubMed:24120883). At focal adhesions (FAs) rims, organizes cortical
PDB 5YBJ , 5YBU , 8AS9 , 8IVZ , 8IW0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12075 KN_motif
30 68
KN motif
Motif
PF00023 Ank
1161 1194
Ankyrin repeat
Repeat
PF00023 Ank
1233 1265
Ankyrin repeat
Repeat
PF00023 Ank
1266 1299
Ankyrin repeat
Repeat
Sequence
MAHTTKVNGSASGKAGDILSGDQDKEQKDPYFVETPYGYQLDLDFLKYVDDIQKGNTIKR
LNIQKRRK
PSVPCPEPRTTSGQQGIWTSTESLSSSNSDDNKQCPNFLIARSQVTSTPISK
PPPPLETSLPFLTIPENRQLPPPSPQLPKHNLHVTKTLMETRRRLEQERATMQMTPGEFR
RPRLASFGGMGTTSSLPSFVGSGNHNPAKHQLQNGYQGNGDYGSYAPAAPTTSSMGSSIR
HSPLSSGISTPVTNVSPMHLQHIREQMAIALKRLKELEEQVRTIPVLQVKISVLQEEKRQ
LVSQLKNQRAASQINVCGVRKRSYSAGNASQLEQLSRARRSGGELYIDYEEEEMETVEQS
TQRIKEFRQLTADMQALEQKIQDSSCEASSELRENGECRSVAVGAEENMNDIVVYHRGSR
SCKDAAVGTLVEMRNCGVSVTEAMLGVMTEADKEIELQQQTIESLKEKIYRLEVQLRETT
HDREMTKLKQELQAAGSRKKVDKATMAQPLVFSKVVEAVVQTRDQMVGSHMDLVDTCVGT
SVETNSVGISCQPECKNKVVGPELPMNWWIVKERVEMHDRCAGRSVEMCDKSVSVEVSVC
ETGSNTEESVNDLTLLKTNLNLKEVRSIGCGDCSVDVTVCSPKECASRGVNTEAVSQVEA
AVMAVPRTADQDTSTDLEQVHQFTNTETATLIESCTNTCLSTLDKQTSTQTVETRTVAVG
EGRVKDINSSTKTRSIGVGTLLSGHSGFDRPSAVKTKESGVGQININDNYLVGLKMRTIA
CGPPQLTVGLTASRRSVGVGDDPVGESLENPQPQAPLGMMTGLDHYIERIQKLLAEQQTL
LAENYSELAEAFGEPHSQMGSLNSQLISTLSSINSVMKSASTEELRNPDFQKTSLGKITG
NYLGYTCKCGGLQSGSPLSSQTSQPEQEVGTSEGKPISSLDAFPTQEGTLSPVNLTDDQI
AAGLYACTNNESTLKSIMKKKDGNKDSNGAKKNLQFVGINGGYETTSSDDSSSDESSSSE
SDDECDVIEYPLEEEEEEEDEDTRGMAEGHHAVNIEGLKSARVEDEMQVQECEPEKVEIR
ERYELSEKMLSACNLLKNTINDPKALTSKDMRFCLNTLQHEWFRVSSQKSAIPAMVGDYI
AAFEAISPDVLRYVINLADGNGNTALHYSVSHSNFEIVKLLLDADVCNVDHQNKAGYTPI
MLAALAAVEAEKDMRIVEELFGCGDVNAKASQAGQTALMLAVSHGRIDMVKGLLACGADV
NIQDD
EGSTALMCASEHGHVEIVKLLLAQPGCNGHLEDNDGSTALSIALEAGHKDIAVLL
YAHVNFAKAQSPGTPRLGRKTSPGPTHRGSFD
Sequence length 1352
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Estrogen-dependent gene expression
Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Cerebral palsy Cerebral Palsy, Cerebral Palsy, Spastic Quadriplegic, 1, Cerebral Palsy, Spastic Quadriplegic, 2 rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513 16301218
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 27989131
Unknown
Disease name Disease term dbSNP ID References
Cerebral atrophy Cerebral atrophy
Hereditary congenital spastic tetraplegia Inherited congenital spastic tetraplegia
Spastic quadriplegia Spastic Quadriplegia
Uterine fibroids Uterine Fibroids 30194396, 31649266

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