GediPNet logo

DIXDC1 (DIX domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85458
Gene nameGene Name - the full gene name approved by the HGNC.
DIX domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DIXDC1
SynonymsGene synonyms aliases
CCD1
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.1
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms.
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1419374563 C>G,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, stop gained, 5 prime UTR variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016151 hsa-miR-615-3p Sequencing 20371350
MIRT051092 hsa-miR-16-5p CLASH 23622248
MIRT438828 hsa-miR-582-5p qRT-PCR 23295946
MIRT438826 hsa-miR-582-3p qRT-PCR 23295946
MIRT438828 hsa-miR-582-5p qRT-PCR 23295946
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 20823832, 21189423
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA 19375513
GO:0005856 Component Cytoskeleton IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q155Q3
Protein name Dixin (Coiled-coil protein DIX1) (Coiled-coil-DIX1) (DIX domain-containing protein 1)
Protein function Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2.
PDB 3PZ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH
20 128
Calponin homology (CH) domain
Domain
PF00778 DIX
599 678
DIX domain
Family
Sequence
MLACLTRGNLLDVLQEGFNEQQLQAYVAWVNAQLKKRPAVKPVQDLRQDLRDGVILAYLI
EIVAGEKLSGVQLSPGNQQEMKNNVEKVLQFVASKKIRMHQTSAKDIVDGNLKSIMRLVL
ALAAHFKP
GSSRTVNQGRDSRAPLQSHRPHCATAVAQGAAAALADVCHDMSRSGRDVFRY
RQRNSSMDEEIENPYWSVRALVQQYEGQQRSPSESSCSSLTSPSPIHSAKSESIITQSEE
KADFVIIPAEGIENRTEGTDSPLSRDWRPGSPGTYLETSWEEQLLEQQEYLEKEMEEAKK
MISGLQALLLNGSLPEDEQERPLALCEPGVNPEEQLIIIQSRLDQSMEENQDLKKELLKC
KQEARNLQGIKDALQQRLTQQDTSVLQLKQELLRANMDKDELHNQNVDLQRKLDERNRLL
GEYKKELGQKDRLLQQHQAKLEEALRKLSDVSYHQVDLERELEHKDVLLAHCMKREADEA
TNYNSHNSQSNGFLLPTAGKGATSVSNRGTSDLQLVRDALRSLRNSFSGHDPQHHTIDSL
EQGISSLMERLHVMETQKKQERKVRVKSPRTQVGSEYRESWPPNSKLPHSQSSPTVSSTC
TKVLYFTDRSLTPFMVNIPKRLEEVTLKDFKAAIDREGNHRYHFKALDPEFGTVKEEIFH
DDDAIPGWEGKIVAWVEE
DHGEN
Sequence length 683
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 27752079
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 27752079
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety Disorders, Anxiety States, Neurotic 27752079
Bipolar disorder Bipolar Disorder, Depression, Bipolar 27752079
Manic disorder Manic, Manic Disorder 27752079
Melancholia Melancholia 27752079

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412