DIXDC1 DIX domain containing 1 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: DIXDC1provided by HGNC
Official Full Name: DIX domain containing 1provided by HGNC
Primary source: HGNC:23695
See related: Ensembl:ENSG00000150764; HPRD:16804; MIM:610493
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCD1; KIAA1735

Help top of page

Genomic context

Location :: 11q23.1

Sequence :: Chromosome: 11; NC_000011.9 (111807927..111893308)

See DIXDC1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

a molecular mechanism for Ccd1-mediated Wnt activation in that Ccd1 converts latent polymeric Dvl to a biologically active oligomer(s).
Title: Molecular basis of Wnt activation via the DIX domain protein Ccd1.
This study reveal that Dixdc1 integrates DISC1 into Wnt-GSK3beta/beta-catenin-dependent and -independent signaling pathways during cortical development and further delineate how DISC1 contributes to neuropsychiatric disorders.
Title: Dixdc1 is a critical regulator of DISC1 and embryonic cortical development.
Wnt/beta-catenin pathway activation might upregulate DIXDC1 through a post-translational mechanism by inhibiting the ubiquitin-mediated degradation of the DIXDC1 protein.
Title: Wnt signaling stabilizes the DIXDC1 protein through decreased ubiquitin-dependent degradation.
over-expression of DIXDC1 might target p21 and cyclin D1 to promote colon cancer cell proliferation and tumorigenesis at least partially through activation of the PI3K/Akt pathway.
Title: DIXDC1 targets p21 and cyclin D1 via PI3K pathway activation to promote colon cancer cell proliferation.
The GFP-tag fused DIXDC1 exogenously expressed co-localize with gamma-tubulin both at interphase and mitotic phase in the centrosomes.
Title: DIXDC1 co-localizes and interacts with gamma-tubulin in HEK293 cells.
DIXDC1 might play an important role during neurogenesis, overexpression of DIXDC1 in embryonic carcinoma P19 cells promoted neuronal differentiation, and inhibited gliogenesis induced by retinoic acid.
Title: DIXDC1 promotes retinoic acid-induced neuronal differentiation and inhibits gliogenesis in P19 cells.
Ccd1 inhibits Axin-mediated JNK activation by simultaneously adopting two distinct mechanisms, one through conformational changes that disallow MEKK1 binding and the other via direct sequestration of MEKK4.
Title: The DIX domain protein coiled-coil-DIX1 inhibits c-Jun N-terminal kinase activation by Axin and dishevelled through distinct mechanisms.
KIAA1735 maps to human chromosome 11q23.1 and encodes a novel protein with a myosine-tail homologous domain and C-terminal DIX domain
Title: KIAA1735 gene on human chromosome 11q23.1 encodes a novel protein with myosine-tail homologous domain and C-terminal DIX domain.
Thus, our data provide the first evidence that l-DIXDC1 may act as a novel branching component in the Wnt signaling pathway targeting both beta-catenin-TCF complex for gene expression and cytoskeleton for regulating dynamics of actin filaments.
Title: DIXDC1 isoform, l-DIXDC1, is a novel filamentous actin-binding protein.
MTHDIX (KIAA1735) protein consists of Myosine-tail homologous (MTH) domain and C-terminal DIX domain.
Title: KIAA1735 gene on human chromosome 11q23.1 encodes a novel protein with myosine-tail homologous domain and C-terminal DIX domain.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
DIX domain containing 1	O15169	AXIN1	HPRD	PubMed
DIX domain containing 1	Q9Y6R4	MAP3K4	HPRD	PubMed
BioGRID:124542	BioGRID:107424	CDC5L	BioGRID	PubMed	Two-hybrid
BioGRID:124542	BioGRID:123527	NDEL1	BioGRID	PubMed	Two-hybrid
BioGRID:124542	BioGRID:212013	Nde1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:124542	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info
gamma-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
mitogen-activated protein kinase kinase kinase binding	IBA Inferred from Biological aspect of Ancestor more info
protein binding	IPI Inferred from Physical Interaction more info
protein domain specific binding	IEA Inferred from Electronic Annotation more info
signal transducer activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
NOT Wnt receptor signaling pathway, planar cell polarity pathway	IRD Inferred from Rapid Divergence more info
camera-type eye development	IBA Inferred from Biological aspect of Ancestor more info
cell cycle	IEA Inferred from Electronic Annotation more info
cerebellar cortex development	IBA Inferred from Biological aspect of Ancestor more info
cerebral cortex radially oriented cell migration	IEA Inferred from Electronic Annotation more info
forebrain development	IBA Inferred from Biological aspect of Ancestor more info
forebrain ventricular zone progenitor cell division	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of canonical Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info
regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
regulation of actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
regulation of microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axon terminus	IBA Inferred from Biological aspect of Ancestor more info
cell cortex	IBA Inferred from Biological aspect of Ancestor more info
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	IDA Inferred from Direct Assay more info	PubMed
focal adhesion	IEA Inferred from Electronic Annotation more info
intracellular	IEA Inferred from Electronic Annotation more info
neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Preferred Names: dixin

Names: dixin; coiled-coil-DIX1; coiled-coil protein DIX1; DIX domain-containing protein 1

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001037954.2 → NP_001033043.1 dixin isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform a).

Source sequence(s)

AB051522, AB074187, BC064479, DQ642016

UniProtKB/Swiss-Prot

Q155Q3

Related

ENSP00000394352, ENST00000440460

Conserved Domains (3) summary

cd00014
Location:22 – 126
Blast Score: 168

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

COG1196
Location:333 – 565
Blast Score: 121

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02426
Location:601 – 680
Blast Score: 347

DIX; DIX domain
NM_033425.3 → NP_219493.1 dixin isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alterate segment for its 5' UTR and 5' CDS and lacks many segments in the CDS when compared to variant 1. The resulting protein (isoform b) has a shorter and distinct N-terminus when it is compared to isoform a.

Source sequence(s)

AB051522, AB074187, DA096120

UniProtKB/Swiss-Prot

Q155Q3

Related

ENSP00000314068, ENST00000315253

Conserved Domains (2) summary

COG1196
Location:122 – 354
Blast Score: 120

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02426
Location:390 – 469
Blast Score: 344

DIX; DIX domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

111807927..111893308

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

107731888..107817331

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP000907.6 (78965..123611)	None
genomic	CH471065.1	EAW67171.1
		EAW67172.1
		EAW67173.1
mRNA	AB051522.1	BAB21826.1
mRNA	AB074187.1	None
mRNA	AF070621.1	None
mRNA	AK055469.1	BAG51522.1
mRNA	AK055899.1	BAB71039.1
mRNA	AK074277.1	None
mRNA	AK289807.1	BAF82496.1
mRNA	AK294954.1	BAG58029.1
mRNA	AU253693.1	None
mRNA	BC033034.2	AAH33034.1
mRNA	BC035509.2	AAH35509.1
mRNA	BC041626.1	AAH41626.2
mRNA	BC048294.1	AAH48294.1
mRNA	BC064479.1	AAH64479.1
mRNA	BC128600.1	AAI28601.1
mRNA	BX370159.2	None
mRNA	DA096120.1	None
mRNA	DQ642016.1	ABG25914.1