DOK1 docking protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOK1provided by HGNC
Official Full Name: docking protein 1provided by HGNC
Primary source: HGNC:HGNC:2990
See related: Ensembl:ENSG00000115325 MIM:602919; AllianceGenome:HGNC:2990
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: pp62; P62DOK
Summary: The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Expression: Ubiquitous expression in fat (RPKM 6.6), spleen (RPKM 6.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74549105..74557551)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74557671..74566117)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74776232..74784678)

Chromosome 2 - NC_000002.12 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?

Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1.
Title: Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1.
Docking protein 1 and free fatty acids are associated with insulin resistance in patients with type 2 diabetes mellitus.
Title: Docking protein 1 and free fatty acids are associated with insulin resistance in patients with type 2 diabetes mellitus.
Analysis of the DOK1 gene in breast cancer.
Title: Analysis of the DOK1 gene in breast cancer.
Nck adapter proteins promote podosome biogenesis facilitating extracellular matrix degradation and cancer invasion.
Title: Nck adapter proteins promote podosome biogenesis facilitating extracellular matrix degradation and cancer invasion.
Decreased DOK1/2 expressions associated with their promoter hypermethylations predict adverse prognosis in AML.
Title: Methylation-associated DOK1 and DOK2 down-regulation: Potential biomarkers for predicting adverse prognosis in acute myeloid leukemia.
Taken together, these results indicate that ATRA-enhanced expression of DOK1 activates PPARgamma leading to inhibition of cell proliferation and enhancement of cell apoptosis in MCF-7 cell.
Title: DOK1/PPARgamma pathway mediates anti-tumor ability of all-trans retinoic acid in breast cancer MCF-7 cells.
DOK1 was identified as a prognostic factor for non-metastatic CRC, and, via its drugability by PPARgamma-agonist, may constitute a potential target for future cancer treatments.
Title: Subcellular compartmentalization of docking protein-1 contributes to progression in colorectal cancer.
DOK3 expression was not altered much in HTLV-1-infected T cells.
Title: Expression of DOK1, 2, and 3 genes in HTLV-1-infected T cells.
Results indicate that hypermethylation of tumor suppressor protein RASSF1A and docking protein 1 (DOK1) contributes to hepatocarcinogenesis and is associated to clinicopathological characteristics.
Title: RASSF1A and DOK1 Promoter Methylation Levels in Hepatocellular Carcinoma, Cirrhotic and Non-Cirrhotic Liver, and Correlation with Liver Cancer in Brazilian Patients.
Data show that residues Ser745 and Ser756 in the integrin beta2 tail, which are adjacent to the NxxF motif, are required for docking protein 1, docking protein 1, 62kDa (downstream of tyrosine kinase 1) (Dok1) interaction.
Title: An Alternative Phosphorylation Switch in Integrin β2 (CD18) Tail for Dok1 Binding.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 PR is identified to have a physical interaction with docking protein 1 (DOK1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3697 (e-PCR)
- UniSTS:474275

RH48230 (e-PCR)
- UniSTS:37541

NoName (e-PCR)
- UniSTS:489697

RH70700 (e-PCR)
- UniSTS:66799

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in macrophage colony-stimulating factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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 nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: docking protein 1

Names: Downstream of tyrosine kinase 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.

Genomic

NG_050617.1 RefSeqGene

Range

11516..14347

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001197260.2 → NP_001184189.1 docking protein 1 isoform b

See identical proteins and their annotated locations for NP_001184189.1

Status: REVIEWED

Description

Transcript Variant: This variant differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b, also known as 2) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).

Source sequence(s)

AF035299, BQ575925, DA382785

Consensus CDS

CCDS56125.1

UniProtKB/Swiss-Prot

Q99704

Related

ENSP00000387016.1, ENST00000409429.5

Conserved Domains (1) summary

cd01203
Location:12 → 114

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
NM_001318866.2 → NP_001305795.1 docking protein 1 isoform b

Status: REVIEWED

Source sequence(s)

AK055944, AK314678, BQ575925

Consensus CDS

CCDS56125.1

UniProtKB/TrEMBL

B3KP83

Conserved Domains (1) summary

cd01203
Location:12 → 114

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
NM_001318867.2 → NP_001305796.1 docking protein 1 isoform c

Status: REVIEWED

Source sequence(s)

AK055944, AK296154, BQ575925

UniProtKB/TrEMBL

B3KP83, B4DJN1, Q53GP8

Conserved Domains (3) summary

cd01203
Location:140 → 242

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)

pfam00169
Location:8 → 105

PH; PH domain

cl17171
Location:11 → 108

PH-like; Pleckstrin homology-like domain
NM_001318868.2 → NP_001305797.1 docking protein 1 isoform d

Status: REVIEWED

Source sequence(s)

AC005033, AK055944, BC111055, BQ575925

Consensus CDS

CCDS82474.1

UniProtKB/Swiss-Prot

Q99704

UniProtKB/TrEMBL

B3KP83, Q2TA81

Related

ENSP00000344330.6, ENST00000340004.6

Conserved Domains (1) summary

cl17171
Location:6 → 119

PH-like; Pleckstrin homology-like domain
NM_001318869.2 → NP_001305798.1 docking protein 1 isoform e

Status: REVIEWED

Source sequence(s)

AC005033, AK055944, BC114497, BQ575925

UniProtKB/TrEMBL

Q14CB2, Q2TA81

Conserved Domains (1) summary

cl17171
Location:1 → 39

PH-like; Pleckstrin homology-like domain
NM_001381.5 → NP_001372.1 docking protein 1 isoform a

See identical proteins and their annotated locations for NP_001372.1

Status: REVIEWED

Source sequence(s)

AC005033, AK055944, BQ575925

Consensus CDS

CCDS1954.1

UniProtKB/Swiss-Prot

O43204, Q53TY2, Q99704, Q9UHG6

UniProtKB/TrEMBL

B3KP83, Q53GP8

Related

ENSP00000233668.5, ENST00000233668.10

Conserved Domains (2) summary

cd01203
Location:151 → 253

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)

cl17171
Location:6 → 119

PH-like; Pleckstrin homology-like domain