DLGAP5 DLG associated protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLGAP5provided by HGNC
Official Full Name: DLG associated protein 5provided by HGNC
Primary source: HGNC:HGNC:16864
See related: Ensembl:ENSG00000126787 MIM:617859; AllianceGenome:HGNC:16864
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DLG7; HURP
Summary: Predicted to enable microtubule binding activity. Predicted to be involved in several processes, including centrosome localization; kinetochore assembly; and mitotic spindle organization. Located in several cellular components, including centrosome; cytosol; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bone marrow (RPKM 9.4), testis (RPKM 9.1) and 12 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q22.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (55148135..55191585, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (49353325..49396782, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (55614853..55658303, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DLGAP5 promotes lung adenocarcinoma growth via upregulating PLK1 and serves as a therapeutic target.
Title: DLGAP5 promotes lung adenocarcinoma growth via upregulating PLK1 and serves as a therapeutic target.
DLGAP5 triggers proliferation and metastasis of bladder cancer by stabilizing E2F1 via USP11.
Title: DLGAP5 triggers proliferation and metastasis of bladder cancer by stabilizing E2F1 via USP11.
circ_0058063 promotes breast cancer progression by upregulating DLGAP5 via sponging miR-557.
Title: circ_0058063 promotes breast cancer progression by upregulating DLGAP5 via sponging miR-557.
DLGAP5 promotes gallbladder cancer migration and tumor-associated macrophage M2 polarization by activating cAMP.
Title: DLGAP5 promotes gallbladder cancer migration and tumor-associated macrophage M2 polarization by activating cAMP.
DLGAP5 knockdown inactivates the Wnt/beta-catenin signal to repress endometrial cancer cell malignant activities.
Title: DLGAP5 knockdown inactivates the Wnt/β-catenin signal to repress endometrial cancer cell malignant activities.
High Expression of DLGAP5 Indicates Poor Prognosis and Immunotherapy in Lung Adenocarcinoma and Promotes Proliferation through Regulation of the Cell Cycle.
Title: High Expression of DLGAP5 Indicates Poor Prognosis and Immunotherapy in Lung Adenocarcinoma and Promotes Proliferation through Regulation of the Cell Cycle.
Whole Genome Transcriptomic Analysis of Ovary Granulosa Cells Revealed an Anti-Apoptosis Regulatory Gene DLGAP5 in Polycystic Ovary Syndrome.
Title: Whole Genome Transcriptomic Analysis of Ovary Granulosa Cells Revealed an Anti-Apoptosis Regulatory Gene DLGAP5 in Polycystic Ovary Syndrome.
Screening and identification of LMNB1 and DLGAP5, two key biomarkers in gliomas.
Title: Screening and identification of LMNB1 and DLGAP5, two key biomarkers in gliomas.
Pan-cancer analysis and experiments with cell lines reveal that the slightly elevated expression of DLGAP5 is involved in clear cell renal cell carcinoma progression.
Title: Pan-cancer analysis and experiments with cell lines reveal that the slightly elevated expression of DLGAP5 is involved in clear cell renal cell carcinoma progression.
The expression of hepatoma upregulated protein in human endometrium during the menstrual cycle.
Title: The expression of hepatoma upregulated protein in human endometrium during the menstrual cycle.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of circulating galectin-3. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G36257 (e-PCR)
- UniSTS:27525

D14S1183 (e-PCR)
- UniSTS:1781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in centrosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in kinetochore assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic chromosome movement towards spindle pole	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mitotic metaphase/anaphase transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in signaling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle pole centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle pole centrosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: disks large-associated protein 5

Names: DAP-5; discs large homolog associated protein 5; discs, large homolog 7; disks large-associated protein DLG7; hepatoma up-regulated protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001146015.2 → NP_001139487.1 disks large-associated protein 5 isoform b

See identical proteins and their annotated locations for NP_001139487.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AK299338, BM788630, BX248255

Consensus CDS

CCDS53897.1

UniProtKB/TrEMBL

A8K732

Related

ENSP00000378815.2, ENST00000395425.6

Conserved Domains (1) summary

pfam03359
Location:432 → 599

GKAP; Guanylate-kinase-associated protein (GKAP) protein
NM_014750.5 → NP_055565.3 disks large-associated protein 5 isoform a

See identical proteins and their annotated locations for NP_055565.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).

Source sequence(s)

AB076695, BC010658

Consensus CDS

CCDS9723.1

UniProtKB/Swiss-Prot

A8MTM6, B4DRM8, Q15398, Q86T11, Q8NG58

UniProtKB/TrEMBL

A8K732

Related

ENSP00000247191.2, ENST00000247191.7

Conserved Domains (1) summary

pfam03359
Location:432 → 599

GKAP; Guanylate-kinase-associated protein (GKAP) protein

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

55148135..55191585 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017021840.3 → XP_016877329.1 disks large-associated protein 5 isoform X1

UniProtKB/Swiss-Prot

A8MTM6, B4DRM8, Q15398, Q86T11, Q8NG58

UniProtKB/TrEMBL

A8K732

Conserved Domains (1) summary

pfam03359
Location:432 → 599

GKAP; Guanylate-kinase-associated protein (GKAP) protein
XM_047432016.1 → XP_047287972.1 disks large-associated protein 5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

49353325..49396782 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377137.1 → XP_054233112.1 disks large-associated protein 5 isoform X1

UniProtKB/Swiss-Prot

A8MTM6, B4DRM8, Q15398, Q86T11, Q8NG58
XM_054377138.1 → XP_054233113.1 disks large-associated protein 5 isoform X2