U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 85458, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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
     
    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

    Preferred Names
    dixin
    Names
    coiled-coil protein DIX1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A1A5D8, E9PRV4, Q155Q3, Q6P2J8, Q6PIK4, Q86SR7, Q8IVY4, Q96N69, Q9C0C8
      Related
      ENSP00000394352.3, ENST00000440460.7
      Conserved Domains (3) summary
      COG1196
      Location:281463
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam00778
      Location:600677
      DIX; DIX domain
      cd21213
      Location:22128
      CH_DIXDC1; calponin homology (CH) domain found in Dixin and similar proteins
    2. NM_001278542.2NP_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_033425.5NP_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:389464
      DIX; DIX domain
      pfam02601
      Location:160249
      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_017018466.3XP_016873955.1  dixin isoform X1

    2. XM_024448743.2XP_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_017018467.2XP_016873956.1  dixin isoform X1

    4. XM_024448742.2XP_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_047427787.1XP_047283743.1  dixin isoform X4

      UniProtKB/TrEMBL
      B4DH68

    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_054370328.1XP_054226303.1  dixin isoform X1

    2. XM_054370331.1XP_054226306.1  dixin isoform X3

    3. XM_054370329.1XP_054226304.1  dixin isoform X1

    4. XM_054370330.1XP_054226305.1  dixin isoform X2

    5. XM_054370332.1XP_054226307.1  dixin isoform X4

      UniProtKB/TrEMBL
      B4DH68