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

Summary

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

Location:: 10q23.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (80336013..80356755, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (81205115..81225857, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (82095858..82116511, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of Set1C/COMPASS complex	IBA Inferred from Biological aspect of Ancestor more info
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)

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
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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

80336013..80356755 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

X1WI33
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
XM_047424655.1 → XP_047280611.1 DPY30 domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
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
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
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

NC_060934.1 Alternate T2T-CHM13v2.0

Range

81205115..81225857 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364906.1 → XP_054220881.1 DPY30 domain-containing protein 1 isoform X3
XM_054364904.1 → XP_054220879.1 DPY30 domain-containing protein 1 isoform X1
XM_054364902.1 → XP_054220877.1 DPY30 domain-containing protein 1 isoform X1
XM_054364905.1 → XP_054220880.1 DPY30 domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3
XM_054364903.1 → XP_054220878.1 DPY30 domain-containing protein 1 isoform X1
XM_054364907.1 → XP_054220882.1 DPY30 domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

A8K927, Q5QP03, Q5QP04, Q6WNP4, Q6ZU87, Q8WWB3