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

Gene ID: 85458, updated on 1-Jun-2020

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
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

Genomic context

See DIXDC1 in Genome Data Viewer
Location:
11q23.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (111927144..112022653)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111797868..111893374)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene crystallin alpha B 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 RNA, U6 small nuclear 893, pseudogene Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene peptidylprolyl isomerase H pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
gamma-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cerebral cortex radially oriented cell migration IEA
Inferred from Electronic Annotation
more info
 
forebrain ventricular zone progenitor cell division IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Wnt signaling pathway IEA
Inferred from Electronic Annotation
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
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dixin
Names
coiled-coil protein DIX1

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.

Genomic

  1. NG_033127.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001037954.4NP_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
    Q155Q3
    Related
    ENSP00000394352.3, ENST00000440460.7
    Conserved Domains (3) summary
    cd00014
    Location:22126
    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:600675
    DIX; DIX domain
    pfam02601
    Location:371460
    Exonuc_VII_L; Exonuclease VII, large subunit
  2. NM_001278542.1NP_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:21125
    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_033425.4NP_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, DA096120, DB358954
    Consensus CDS
    CCDS73382.1
    UniProtKB/Swiss-Prot
    Q155Q3
    Related
    ENSP00000480808.1, ENST00000615255.1
    Conserved Domains (2) summary
    pfam00778
    Location:389464
    DIX; DIX domain
    pfam02601
    Location:160249
    Exonuc_VII_L; Exonuclease VII, large subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    111927144..112022653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018466.2XP_016873955.1  dixin isoform X1

  2. XM_024448743.1XP_024304511.1  dixin isoform X3

    Conserved Domains (3) summary
    pfam00307
    Location:23126
    CH; Calponin homology (CH) domain
    pfam00778
    Location:563638
    DIX; DIX domain
    cl25732
    Location:244426
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_017018467.1XP_016873956.1  dixin isoform X1

  4. XM_024448742.1XP_024304510.1  dixin isoform X2

    Conserved Domains (3) summary
    pfam00307
    Location:24127
    CH; Calponin homology (CH) domain
    pfam00778
    Location:564639
    DIX; DIX domain
    cl25732
    Location:245427
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_017018468.1XP_016873957.1  dixin isoform X4

  6. XM_017018469.1XP_016873958.1  dixin isoform X5

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