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    DYDC1 DPY30 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 143241, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DYDC1provided by HGNC
    Official Full Name
    DPY30 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23460
    See related
    Ensembl:ENSG00000170788 MIM:615154; AllianceGenome:HGNC:23460
    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
    DPY30D1
    Summary
    This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
    Expression
    Restricted expression toward testis (RPKM 10.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See DYDC1 in Genome Data Viewer
    Location:
    10q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80336013..80356755, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81205115..81225857, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82095858..82116511, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:82032694-82033893 Neighboring gene Sharpr-MPRA regulatory region 13640 Neighboring gene methionine adenosyltransferase 1A Neighboring gene zinc finger protein 519 pseudogene 1 Neighboring gene MPRA-validated peak1026 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82123032-82123216 Neighboring gene DPY30 domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82163430-82163602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82168661-82169254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82170101-82170600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:82177040-82177582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3654 Neighboring gene peroxiredoxin like 2A Neighboring gene Sharpr-MPRA regulatory region 12974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82214375-82214892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3659 Neighboring gene Sharpr-MPRA regulatory region 907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82224527-82225098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82225099-82225670 Neighboring gene Sharpr-MPRA regulatory region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3660 Neighboring gene tetraspanin 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2547 Neighboring gene Sharpr-MPRA regulatory region 2609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82257110-82258073 Neighboring gene Sharpr-MPRA regulatory region 10623

    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
    • 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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    Related articles in PubMed

    1. Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis. Li S, et al. Eur J Cell Biol, 2009 Sep. PMID 19545932
    2. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Kuhl A, et al. Eur J Hum Genet, 2008 Mar. PMID 18197198
    3. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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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    Homology

    Clone Names

    • FLJ43920

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    DPY30 domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001269053.2 → NP_001255982.1  DPY30 domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001255982.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1-4 all encode the longer isoform (a).
      Source sequence(s)
      AL359195, BC019250, BI828082
      Consensus CDS
      CCDS7366.1
      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33
      Related
      ENSP00000361276.1, ENST00000372202.6
      Conserved Domains (2) summary
      pfam04625
      Location:18 → 117
      DEC-1_N; DEC-1 protein, N-terminal region
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    2. NM_001370155.1 → NP_001357084.1  DPY30 domain-containing protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Variants 1-4 all encode the longer isoform (a).
      Source sequence(s)
      AL359195
      Consensus CDS
      CCDS7366.1
      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33
      Conserved Domains (2) summary
      pfam04625
      Location:18 → 117
      DEC-1_N; DEC-1 protein, N-terminal region
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    3. NM_001370156.1 → NP_001357085.1  DPY30 domain-containing protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1-4 all encode the longer isoform (a).
      Source sequence(s)
      AL359195, DB091778
      Consensus CDS
      CCDS7366.1
      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33
      Conserved Domains (2) summary
      pfam04625
      Location:18 → 117
      DEC-1_N; DEC-1 protein, N-terminal region
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    4. NM_001370157.1 → NP_001357086.1  DPY30 domain-containing protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL359195
      UniProtKB/TrEMBL
      X1WI33
      Conserved Domains (2) summary
      pfam04625
      Location:18 → 117
      DEC-1_N; DEC-1 protein, N-terminal region
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    5. NM_138812.4 → NP_620167.1  DPY30 domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_620167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1-4 all encode the longer isoform (a).
      Source sequence(s)
      AL359195, BC019250
      Consensus CDS
      CCDS7366.1
      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33
      Related
      ENSP00000361278.3, ENST00000372204.7
      Conserved Domains (2) summary
      pfam04625
      Location:18 → 117
      DEC-1_N; DEC-1 protein, N-terminal region
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      80336013..80356755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015749.2 → XP_016871238.1  DPY30 domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      X1WI33

    2. XM_011539335.2 → XP_011537637.1  DPY30 domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011537637.1

      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33
      Conserved Domains (2) summary
      pfam04625
      Location:18 → 117
      DEC-1_N; DEC-1 protein, N-terminal region
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    3. XM_047424655.1 → XP_047280611.1  DPY30 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33

    4. XM_005269549.5 → XP_005269606.1  DPY30 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005269606.1

      UniProtKB/TrEMBL
      X1WI33
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    5. XM_005269550.5 → XP_005269607.1  DPY30 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005269607.1

      UniProtKB/TrEMBL
      X1WI33
      Related
      ENSP00000414798.1, ENST00000454362.5
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    6. XM_011539334.3 → XP_011537636.1  DPY30 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011537636.1

      UniProtKB/TrEMBL
      X1WI33
      Conserved Domains (1) summary
      pfam05186
      Location:1 → 42
      Dpy-30; Dpy-30 motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      81205115..81225857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364906.1 → XP_054220881.1  DPY30 domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      X1WI33

    2. XM_054364904.1 → XP_054220879.1  DPY30 domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      X1WI33

    3. XM_054364902.1 → XP_054220877.1  DPY30 domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      X1WI33

    4. XM_054364905.1 → XP_054220880.1  DPY30 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33

    5. XM_054364903.1 → XP_054220878.1  DPY30 domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      X1WI33

    6. XM_054364907.1 → XP_054220882.1  DPY30 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
      UniProtKB/TrEMBL
      X1WI33
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWB3.1 GenPept UniProtKB/Swiss-Prot:Q8WWB3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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