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

Gene ID: 143241, updated on 27-Nov-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
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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 Variation Viewer (GRCh37.p13)

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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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

  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

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

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

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

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

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

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

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

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