DIXDC1 DIX domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIXDC1provided by HGNC
Official Full Name: DIX domain containing 1provided by HGNC
Primary source: HGNC:HGNC:23695
See related: Ensembl:ENSG00000150764 MIM:610493; AllianceGenome:HGNC:23695
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCD1
Summary: 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. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in brain (RPKM 11.3), endometrium (RPKM 10.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (111927315..112022653)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (111937556..112032895)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (111798039..111893377)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA circ_0000423 promotes gastric cancer cell proliferation, migration and invasion via the microR-582-3p/Disheveled-Axin domain containing 1 axis.
Title: Circular RNA circ_0000423 promotes gastric cancer cell proliferation, migration and invasion via the microR-582-3p/Disheveled-Axin domain containing 1 axis.
LncRNA SNHG20 enhances the progression of oral squamous cell carcinoma by regulating the miR-29a/DIXDC1/Wnt regulatory axis.
Title: LncRNA SNHG20 enhances the progression of oral squamous cell carcinoma by regulating the miR-29a/DIXDC1/Wnt regulatory axis.
High DIXDC1 expression is associated with Growth and Invasion of Gastric Cancer.
Title: MicroRNA-154 Inhibits the Growth and Invasion of Gastric Cancer Cells by Targeting DIXDC1/WNT Signaling.
these results demonstrate that DIXDC1 promotes the growth of acute myeloid leukemia cells, possibly through upregulating the Wnt/beta-catenin signaling pathway
Title: DIXDC1 promotes the growth of acute myeloid leukemia cells by upregulating the Wnt/β-catenin signaling pathway.
DIXDC1 silencing inhibited cell proliferation, invasion, and Wnt signaling in retinoblastoma cell lines. DIXDC1 was identified as a target gene of miR-186
Title: Suppression of Disheveled-Axin Domain Containing 1 (DIXDC1) by MicroRNA-186 Inhibits the Proliferation and Invasion of Retinoblastoma Cells.
MiR-539 inhibits glioma cell proliferation and invasion by targeting DIXDC1.
Title: MicroRNA-539 inhibits glioma cell proliferation and invasion by targeting DIXDC1.
DIXDC1 might participate in the development of glioma.
Title: Knockdown of DIXDC1 Inhibits the Proliferation and Migration of Human Glioma Cells.
Overexpression of DIXDC1 correlates with enhanced cell growth and poor prognosis in human pancreatic ductal adenocarcinoma.
Title: Overexpression of DIXDC1 correlates with enhanced cell growth and poor prognosis in human pancreatic ductal adenocarcinoma.
found that DIXDC1 could promote cell proliferation via modulating cell cycle progression and PI3K/AKT signaling pathway in NHLs
Title: DIXDC1 promotes tumor proliferation and cell adhesion mediated drug resistance (CAM-DR) via enhancing p-Akt in Non-Hodgkin's lymphomas.
Taken together, our results suggest that DIXDC1 plays an important role in regulating prostate cancer cell proliferation and invasion. Targeting DIXDC1 by miR-1271 may be a promising therapeutic strategy for prostate cancer.
Title: Inhibition of DIXDC1 by microRNA-1271 suppresses the proliferation and invasion of prostate cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103217 (e-PCR)
- UniSTS:97550

DIXDC1__4742 (e-PCR)
- UniSTS:462869

RH36905 (e-PCR)
- UniSTS:87932

STS-AA026898 (e-PCR)
- UniSTS:6593

RH104183 (e-PCR)
- UniSTS:98508

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables gamma-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info

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	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex radially oriented cell migration	IEA Inferred from Electronic Annotation more info
involved_in forebrain ventricular zone progenitor cell division	IEA Inferred from Electronic Annotation more info
involved_in modification of postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dixin

Names: coiled-coil protein 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.

Genomic

NG_033127.2 RefSeqGene

Range

15200..100510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001037954.4 → NP_001033043.1 dixin isoform a

See identical proteins and their annotated locations for NP_001033043.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as l-DIXDC1).

Source sequence(s)

AB051522, AB074187, AP000907, BC064479, DB358954, DQ642016

Consensus CDS

CCDS73381.1

UniProtKB/Swiss-Prot

A1A5D8, E9PRV4, Q155Q3, Q6P2J8, Q6PIK4, Q86SR7, Q8IVY4, Q96N69, Q9C0C8

Related

ENSP00000394352.3, ENST00000440460.7

Conserved Domains (3) summary

COG1196
Location:281 → 463

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

pfam00778
Location:600 → 677

DIX; DIX domain

cd21213
Location:22 → 128

CH_DIXDC1; calponin homology (CH) domain found in Dixin and similar proteins
NM_001278542.2 → NP_001265471.1 dixin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains multiple differences in the UTRs and coding region, compared to variant 1, including the lack of multiple 3' coding exons. The encoded isoform (c) is shorter and has distinct N- and C- termini, compared to isoform a.

Source sequence(s)

AP000907, BC048294, HY037299

Consensus CDS

CCDS60957.1

UniProtKB/Swiss-Prot

Q155Q3

Related

ENSP00000434130.1, ENST00000529225.5

Conserved Domains (1) summary

cd00014
Location:21 → 125

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 ...
NM_033425.5 → NP_219493.1 dixin isoform b

See identical proteins and their annotated locations for NP_219493.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and lacks multiple 5' coding exons, compared to variant 1. The encoded isoform (b, also known as s-DIXDC1) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB051522, AB074187, AP000907, DA096120, DB358954

Consensus CDS

CCDS73382.1

UniProtKB/TrEMBL

A8K192

Related

ENSP00000480808.1, ENST00000615255.1

Conserved Domains (2) summary

pfam00778
Location:389 → 464

DIX; DIX domain

pfam02601
Location:160 → 249

Exonuc_VII_L; Exonuclease VII, large subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

111927315..112022653

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018466.3 → XP_016873955.1 dixin isoform X1
XM_024448743.2 → XP_024304511.1 dixin isoform X3

Conserved Domains (3) summary

pfam00307
Location:23 → 126

CH; Calponin homology (CH) domain

pfam00778
Location:563 → 638

DIX; DIX domain

cl25732
Location:244 → 426

SMC_N; RecF/RecN/SMC N terminal domain
XM_017018467.2 → XP_016873956.1 dixin isoform X1
XM_024448742.2 → XP_024304510.1 dixin isoform X2

Conserved Domains (3) summary

pfam00307
Location:24 → 127

CH; Calponin homology (CH) domain

pfam00778
Location:564 → 639

DIX; DIX domain

cl25732
Location:245 → 427

SMC_N; RecF/RecN/SMC N terminal domain
XM_047427787.1 → XP_047283743.1 dixin isoform X4