ULK4 unc-51 like kinase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ULK4provided by HGNC
Official Full Name: unc-51 like kinase 4provided by HGNC
Primary source: HGNC:HGNC:15784
See related: Ensembl:ENSG00000168038 MIM:617010; AllianceGenome:HGNC:15784
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: FAM7C1; REC01035
Summary: This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]
Expression: Broad expression in testis (RPKM 5.0), thyroid (RPKM 0.8) and 16 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p22.1

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (41246599..41962103, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (41255217..41980057, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (41288090..42003595, complement)

Chromosome 3 - NC_000003.12 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?

Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.
Title: Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.
Nucleotide Binding, Evolutionary Insights, and Interaction Partners of the Pseudokinase Unc-51-like Kinase 4.
Title: Nucleotide Binding, Evolutionary Insights, and Interaction Partners of the Pseudokinase Unc-51-like Kinase 4.
High-Resolution Structure and Inhibition of the Schizophrenia-Linked Pseudokinase ULK4.
Title: High-Resolution Structure and Inhibition of the Schizophrenia-Linked Pseudokinase ULK4.
results indicate that genetic variations in LRP1 and ULK4 contribute to risk for presenting with an acute aortic dissection
Title: Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.
Our findings indicate that ULK4 is a rare susceptibility gene for schizophrenia.
Title: Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility.
First identified as an ULK family kinase and predicted to be catalytically inactive.
Title: The protein kinase complement of the human genome.
Single-nucleotide polymorphism rs1052501 in ULK4 gene is associated with monoclonal gammopathy of undetermined significance and multiple myeloma
Title: Single-nucleotide polymorphism rs1052501 associated with monoclonal gammopathy of undetermined significance and multiple myeloma.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. 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)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with ULK4	PubMed

Go to the HIV-1, Human Interaction Database

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

L18078 (e-PCR)
- UniSTS:52486

RH70465 (e-PCR)
- UniSTS:51980

SHGC-76867 (e-PCR)
- UniSTS:60691

SHGC-33763 (e-PCR)
- UniSTS:14102

G16649 (e-PCR)
- UniSTS:12057

SHGC-146346 (e-PCR)
- UniSTS:172587

G35054 (e-PCR)
- UniSTS:33849

SHGC-146340 (e-PCR)
- UniSTS:175162

D3S2407 (e-PCR)
- UniSTS:74573

D3S1529 (e-PCR)
- UniSTS:49487

RH45632 (e-PCR)
- UniSTS:66901

SHGC-85180 (e-PCR)
- UniSTS:104025

D3S3130 (e-PCR)
- UniSTS:58991

D3S3152 (e-PCR)
- UniSTS:42629

SHGC-148642 (e-PCR)
- UniSTS:176519

D3S3295E (e-PCR)
- UniSTS:153736

G69450 (e-PCR)
- UniSTS:229514

SHGC-83464 (e-PCR)
- UniSTS:170144

SHGC-85329 (e-PCR)
- UniSTS:104869

RH121010 (e-PCR)
- UniSTS:134062

SHGC-145766 (e-PCR)
- UniSTS:174778

SHGC-58623 (e-PCR)
- UniSTS:94435

SHGC-83753 (e-PCR)
- UniSTS:183795

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein kinase C signaling	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: serine/threonine-protein kinase ULK4

NP_001309429.1

EC 2.7.11.1

NP_001309430.1

EC 2.7.11.1

NP_060356.2

EC 2.7.11.1

XP_024309380.1

EC 2.7.11.1

XP_047304373.1

EC 2.7.11.1

XP_054203002.1

EC 2.7.11.1

XP_054203003.1

EC 2.7.11.1

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.

Genomic

NG_051047.1 RefSeqGene

Range

5918..721422

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001322500.2 → NP_001309429.1 serine/threonine-protein kinase ULK4 isoform 2

Status: REVIEWED

Source sequence(s)

AC097356, AC099059, AC099537, AC104305, AC137935

Conserved Domains (4) summary

smart00220
Location:4 → 279

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd00020
Location:646 → 756

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

cd14010
Location:3 → 280

STKc_ULK4; Catalytic domain of the Serine/Threonine kinase, Unc-51-like kinase 4

cl10013
Location:486 → 563

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
NM_001322501.2 → NP_001309430.1 serine/threonine-protein kinase ULK4 isoform 3

Status: REVIEWED

Source sequence(s)

AC097356, AC099059, AC099537, AC104305, AC104307, AC137935, BC018795

Conserved Domains (2) summary

cd00020
Location:344 → 454

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

cl10013
Location:184 → 261

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
NM_017886.4 → NP_060356.2 serine/threonine-protein kinase ULK4 isoform 1

See identical proteins and their annotated locations for NP_060356.2

Status: REVIEWED

Source sequence(s)

AC104305, AC137935, AK304341, BC018795, HY051714

Consensus CDS

CCDS43071.1

UniProtKB/Swiss-Prot

A6NF15, B3KSE5, B4E2M4, Q8IW79, Q96C45, Q9NWV6, Q9UF96

Related

ENSP00000301831.4, ENST00000301831.9

Conserved Domains (4) summary

smart00220
Location:4 → 279

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd00020
Location:646 → 756

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

cd14010
Location:3 → 280

STKc_ULK4; Catalytic domain of the Serine/Threonine kinase, Unc-51-like kinase 4

cl10013
Location:486 → 563

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...