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

Gene ID: 85458, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See DIXDC1 in Genome Data Viewer
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_000011.10Genomic Context describing neighboring genes Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111784209-111784862 Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene crystallin alpha B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3903 Neighboring gene chromosome 11 open reading frame 52 Neighboring gene heat shock protein family B (small) member 2 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111848219-111848850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5528 Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene peptidylprolyl isomerase H pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. MiR-539 inhibits glioma cell proliferation and invasion by targeting DIXDC1.
    Title: MicroRNA-539 inhibits glioma cell proliferation and invasion by targeting DIXDC1.
  7. DIXDC1 might participate in the development of glioma.
    Title: Knockdown of DIXDC1 Inhibits the Proliferation and Migration of Human Glioma Cells.
  8. 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.
  9. 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.
  10. 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 Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1735

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

  1. NG_033127.2 RefSeqGene

    Range
    15200..100510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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 ...

  3. 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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    111927315..112022653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018466.3 → XP_016873955.1  dixin isoform X1

  2. 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

  3. XM_017018467.2 → XP_016873956.1  dixin isoform X1

  4. 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

  5. XM_047427787.1 → XP_047283743.1  dixin isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    111937556..112032895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370328.1 → XP_054226303.1  dixin isoform X1

  2. XM_054370331.1 → XP_054226306.1  dixin isoform X3

  3. XM_054370329.1 → XP_054226304.1  dixin isoform X1

  4. XM_054370330.1 → XP_054226305.1  dixin isoform X2

  5. XM_054370332.1 → XP_054226307.1  dixin isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q155Q3.2 GenPept UniProtKB/Swiss-Prot:Q155Q3

Gene LinkOut

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