Dixdc1 DIX domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dixdc1provided by MGI
Official Full Name: DIX domain containing 1provided by MGI
Primary source: MGI:MGI:2679721
See related: Ensembl:ENSMUSG00000032064 AllianceGenome:MGI:2679721
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ccd1; Ccd1CL; mKIAA1735; Ccd1BbetaL; Ccd1Abeta1L; Ccd1BalphaL; Ccd1Aalpha1L; 4930563F16Rik
Summary: Enables protein domain specific binding activity. Involved in several processes, including forebrain development; modification of postsynaptic actin cytoskeleton; and regulation of cytoskeleton organization. Is active in cytosol; glutamatergic synapse; and postsynapse. Is expressed in several structures, including alimentary system; autonomic nervous system; central nervous system; embryo mesenchyme; and sensory organ. Orthologous to human DIXDC1 (DIX domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cerebellum adult (RPKM 11.8), CNS E18 (RPKM 6.4) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.3; 9 27.75 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (50574052..50650900, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (50662752..50739602, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DIX domain containing 1 (DIXDC1) modulates VEGFR2 level in vasculatures to regulate embryonic and postnatal retina angiogenesis.
Title: DIX domain containing 1 (DIXDC1) modulates VEGFR2 level in vasculatures to regulate embryonic and postnatal retina angiogenesis.
Proteomic Analysis Reveals Autism-Associated Gene DIXDC1 Regulates Proteins Associated with Mitochondrial Organization and Function.
Title: Proteomic Analysis Reveals Autism-Associated Gene DIXDC1 Regulates Proteins Associated with Mitochondrial Organization and Function.
DIXDC1 prevents oxygen-glucose deprivation/reoxygenation-induced neuronal injury by promoting Wnt/beta-catenin signaling.
Title: DIXDC1 prevents oxygen-glucose deprivation/reoxygenation-induced injury in hippocampal neurons in vitro by promoting Wnt/β-catenin signaling.
These findings suggest a novel regulatory mechanism by which mCcd1 modulates Wnt signaling through auto-inhibition of dynamic head-to-tail homopolymerization.
Title: Structural basis for Ccd1 auto-inhibition in the Wnt pathway through homomerization of the DIX domain.
DIXDC1 is a regulator of cortical dendrite and synaptic development.
Title: DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.
Abnormal behavior in Dixdc1 mice could elucidate molecular pathophysiology involving Disc1 in major mental illnesses.
Title: Abnormal behavior in mice mutant for the Disc1 binding partner, Dixdc1.
crystals of the Ccd1 DIX domain belonged to space group P2(1)2(1)2(1), with unit-cell parameters a=72.9, b=75.7, c=125.6 A. An X-ray diffraction data set was collected at 3.0 A resolution
Title: Crystallographic characterization of the DIX domain of the Wnt signalling positive regulator Ccd1.
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.
mouse Ccd1 functions as a positive regulator of the Wnt/beta-catenin pathway. Furthermore, Ccd1 is highly expressed and co-localized with Wnt signaling molecules in the embryonic and adult brain.
Title: Identification and differential expression of multiple isoforms of mouse Coiled-coil-DIX1 (Ccd1), a positive regulator of Wnt signaling.
DIXDC1 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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136195 (e-PCR)
- UniSTS:210190

D9Mit97 (e-PCR), detects polymorphism
- UniSTS:131984

AI835735 (e-PCR)
- UniSTS:165627

D9Mit27 (e-PCR), detects polymorphism
- UniSTS:131836

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables gamma-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables mitogen-activated protein kinase kinase kinase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell proliferation in forebrain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellar cortex development	ISO Inferred from Sequence Orthology more info
involved_in cerebral cortex cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex radially oriented cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in forebrain ventricular zone progenitor cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modification of postsynaptic actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
involved_in modification of postsynaptic actin cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon terminus	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dixin

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

NCBI Reference Sequences (RefSeq)

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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_001311069.1 → NP_001297998.1 dixin isoform 2

See identical proteins and their annotated locations for NP_001297998.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon, which results in a different 5' UTR and use of an alternate translation start codon compared to variant 1. It encodes isoform 2, which is shorter than and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC113987, AK147596, AY549883, BC048182

Consensus CDS

CCDS80995.1

UniProtKB/Swiss-Prot

Q80Y83

Conserved Domains (3) summary

TIGR02168
Location:307 → 504

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:23 → 152

CH; Calponin homology (CH) domain

pfam00778
Location:627 → 702

DIX; DIX domain
NM_001374656.1 → NP_001361585.1 dixin isoform 3

Status: VALIDATED

Source sequence(s)

AC113987

Consensus CDS

CCDS90563.1

Related

ENSMUSP00000112431.2, ENSMUST00000117646.8

Conserved Domains (3) summary

TIGR02168
Location:282 → 479

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:24 → 127

CH; Calponin homology (CH) domain

pfam00778
Location:602 → 677

DIX; DIX domain
NM_178118.2 → NP_835219.1 dixin isoform 1

See identical proteins and their annotated locations for NP_835219.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK147596, AK164424, BC048182

Consensus CDS

CCDS23169.1

UniProtKB/Swiss-Prot

Q3TPF4, Q3UQ90, Q5DPZ2, Q5DPZ3, Q5DPZ4, Q5DPZ6, Q6ZPJ2, Q80Y83, Q8C467, Q8R1C1

Related

ENSMUSP00000034566.9, ENSMUST00000034566.15

Conserved Domains (3) summary

cd00014
Location:22 → 152

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 ...

pfam00778
Location:628 → 703

DIX; DIX domain

pfam02601
Location:397 → 486

Exonuc_VII_L; Exonuclease VII, large subunit

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

50574052..50650900 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313439.3 → XP_017168928.1 dixin isoform X1

UniProtKB/Swiss-Prot

Q80Y83

Related

ENSMUSP00000113089.2, ENSMUST00000121634.8

Conserved Domains (3) summary

TIGR02168
Location:307 → 504

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:23 → 152

CH; Calponin homology (CH) domain

pfam00778
Location:627 → 702

DIX; DIX domain
XM_017313440.3 → XP_017168929.1 dixin isoform X1

UniProtKB/Swiss-Prot

Q80Y83

Conserved Domains (3) summary

TIGR02168
Location:307 → 504

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:23 → 152

CH; Calponin homology (CH) domain

pfam00778
Location:627 → 702

DIX; DIX domain
XM_030244427.1 → XP_030100287.1 dixin isoform X4

Conserved Domains (3) summary

TIGR02168
Location:282 → 535

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:24 → 127

CH; Calponin homology (CH) domain

pfam00778
Location:572 → 647

DIX; DIX domain
XM_006510451.4 → XP_006510514.1 dixin isoform X2

Conserved Domains (3) summary

TIGR02168
Location:307 → 504

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:24 → 152

CH; Calponin homology (CH) domain

pfam00778
Location:627 → 702

DIX; DIX domain
XM_006510455.4 → XP_006510518.1 dixin isoform X3

UniProtKB/Swiss-Prot

Q80Y83

Conserved Domains (3) summary

TIGR02168
Location:308 → 561

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00307
Location:24 → 153

CH; Calponin homology (CH) domain

pfam00778
Location:598 → 673

DIX; DIX domain
XM_036155083.1 → XP_036010976.1 dixin isoform X9

Conserved Domains (2) summary

TIGR02168
Location:39 → 170

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00778
Location:308 → 385

DIX; DIX domain
XM_017313441.3 → XP_017168930.1 dixin isoform X8

UniProtKB/Swiss-Prot

Q80Y83

Conserved Domains (2) summary

TIGR02168
Location:71 → 324

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00778
Location:361 → 436

DIX; DIX domain
XM_006510456.5 → XP_006510519.1 dixin isoform X7

See identical proteins and their annotated locations for XP_006510519.1

UniProtKB/Swiss-Prot

Q80Y83

Related

ENSMUST00000141919.8

Conserved Domains (2) summary

TIGR02168
Location:71 → 268

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00778
Location:391 → 466

DIX; DIX domain
XM_006510457.5 → XP_006510520.1 dixin isoform X9

See identical proteins and their annotated locations for XP_006510520.1

UniProtKB/Swiss-Prot

Q80Y83

Conserved Domains (2) summary

TIGR02168
Location:39 → 170

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00778
Location:308 → 385

DIX; DIX domain
XM_036155082.1 → XP_036010975.1 dixin isoform X6

Conserved Domains (2) summary

TIGR02169
Location:312 → 567

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

cd21213
Location:22 → 154

CH_DIXDC1; calponin homology (CH) domain found in Dixin and similar proteins
XM_036155081.1 → XP_036010974.1 dixin isoform X5

Conserved Domains (2) summary

COG1196
Location:307 → 495

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21213
Location:22 → 154

CH_DIXDC1; calponin homology (CH) domain found in Dixin and similar proteins
XM_036155084.1 → XP_036010977.1 dixin isoform X10

Related

ENSMUSP00000113934.2, ENSMUST00000120622.2

Conserved Domains (1) summary

COG1196
Location:70 → 258

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]