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Aliases for MAP4K1 Gene

Aliases for MAP4K1 Gene

  • Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1 2 3 5
  • Hematopoietic Progenitor Kinase 1 2 3
  • MAPK/ERK Kinase Kinase Kinase 1 3 4
  • MEK Kinase Kinase 1 3 4
  • EC 2.7.11.1 4 61
  • MEKKK 1 3 4
  • HPK1 3 4
  • Hematopoietic Progenitor Kinase 4
  • EC 2.7.11 61

External Ids for MAP4K1 Gene

Previous GeneCards Identifiers for MAP4K1 Gene

  • GC19M039692
  • GC19M039469
  • GC19M043754
  • GC19M043770
  • GC19M039078
  • GC19M035526

Summaries for MAP4K1 Gene

GeneCards Summary for MAP4K1 Gene

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1) is a Protein Coding gene. Among its related pathways are TGF-Beta Pathway and MicroRNAs in cardiomyocyte hypertrophy. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAP4K3.

UniProtKB/Swiss-Prot for MAP4K1 Gene

  • Serine/threonine-protein kinase, which may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation. Able to autophosphorylate.

Gene Wiki entry for MAP4K1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAP4K1 Gene

Genomics for MAP4K1 Gene

Regulatory Elements for MAP4K1 Gene

Enhancers for MAP4K1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G038312 2 FANTOM5 Ensembl ENCODE dbSUPER 3.7 +301.3 301262 9.9 CREB3L1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN C19orf33 CATSPERG SPINT2 ZNF607 ENSG00000269688 ZNF571-AS1 ZNF793-AS1 ZNF793 ZNF781 LOC100631378
GH19G038427 1.1 FANTOM5 ENCODE 3.3 +191.4 191381 0.3 HDGF ELF3 PKNOX1 FOXA2 RAD21 RARA RELB CREM THAP11 ZNF263 RINL GMFG MAP4K1 LGALS7 RASGRP4 RYR1
GH19G038673 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.7 -76.0 -76005 42.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF573 ZNF607 EID2B ACTN4 ENSG00000267152 RN7SL566P RPS16 LOC100631378 CAPN12 SUPT5H
GH19G038924 1.1 FANTOM5 ENCODE 1.7 -306.0 -306027 1.6 CTCF KLF17 ZMYM3 ZNF335 HIC1 GLIS2 ZFHX2 POLR2A PRDM10 EGR2 SARS2 ENSG00000267892 NFKBIB ZFP36 MAP4K1 HNRNPL MRPS12 CCER2
GH19G038634 1.7 Ensembl ENCODE dbSUPER 0.4 -17.8 -17785 4.9 CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 SP3 NFYC ZNF607 ZNF573 ZNF781 ENSG00000267892 ENSG00000267152 RPS16 FBXO17 RN7SL566P CAPN12 ENSG00000269688
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAP4K1 on UCSC Golden Path with GeneCards custom track

Promoters for MAP4K1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109298 -318 1201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for MAP4K1 Gene

Chromosome:
19
Start:
38,587,640 bp from pter
End:
38,618,882 bp from pter
Size:
31,243 bases
Orientation:
Minus strand

Genomic View for MAP4K1 Gene

Genes around MAP4K1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP4K1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP4K1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP4K1 Gene

Proteins for MAP4K1 Gene

  • Protein details for MAP4K1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92918-M4K1_HUMAN
    Recommended name:
    Mitogen-activated protein kinase kinase kinase kinase 1
    Protein Accession:
    Q92918

    Protein attributes for MAP4K1 Gene

    Size:
    833 amino acids
    Molecular mass:
    91296 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with MAP3K1. Interacts with FBXW8.

    Alternative splice isoforms for MAP4K1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP4K1 Gene

Selected DME Specific Peptides for MAP4K1 Gene

Q92918:
  • FIGTPYWMAPEV
  • MEFCGAGS
  • MDGSVKL
  • LFLMTKS
  • CDIWSLG
  • GITAIEL
  • HRDIKGANI
  • GTPYWMAPE

Post-translational modifications for MAP4K1 Gene

  • Autophosphorylates: phosphorylation promotes ubiquitination by the Cul7-RING(FBXW8) ubiquitin-protein ligase complex, leading to its degradation by the proteasome.
  • Ubiquitinated by the Cul7-RING(FBXW8) ubiquitin-protein ligase complex following autophosphorylation, leading to its degradation by the proteasome.
  • Ubiquitination at posLast=139139
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MAP4K1 (HPK1)

Domains & Families for MAP4K1 Gene

Protein Domains for MAP4K1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92918

UniProtKB/Swiss-Prot:

M4K1_HUMAN :
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
genes like me logo Genes that share domains with MAP4K1: view

Function for MAP4K1 Gene

Molecular function for MAP4K1 Gene

GENATLAS Biochemistry:
mitogen-activated kinase kinase kinase kinase 1,nuclear,predominantly expressed in hematopoietic cells,binding MAP3K1 (MEKK1) activating the JNK/SAPK kinase pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase, which may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation. Able to autophosphorylate.

Enzyme Numbers (IUBMB) for MAP4K1 Gene

Gene Ontology (GO) - Molecular Function for MAP4K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity TAS,IEA 8824585
GO:0004674 protein serine/threonine kinase activity IDA,IEA 8824585
GO:0005515 protein binding IPI 9346925
GO:0005524 ATP binding IEA,IDA 8824585
genes like me logo Genes that share ontologies with MAP4K1: view
genes like me logo Genes that share phenotypes with MAP4K1: view

Animal Models for MAP4K1 Gene

MGI Knock Outs for MAP4K1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MAP4K1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MAP4K1 Gene

Localization for MAP4K1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAP4K1 gene
Compartment Confidence
cytosol 4
plasma membrane 3
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MAP4K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with MAP4K1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MAP4K1 Gene

Pathways & Interactions for MAP4K1 Gene

genes like me logo Genes that share pathways with MAP4K1: view

Pathways by source for MAP4K1 Gene

1 GeneGo (Thomson Reuters) pathway for MAP4K1 Gene
3 Qiagen pathways for MAP4K1 Gene

SIGNOR curated interactions for MAP4K1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MAP4K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000185 activation of MAPKKK activity IEA,IC 11053428
GO:0006468 protein phosphorylation IDA,IEA 8824585
GO:0006950 response to stress IDA 8824585
GO:0007257 activation of JUN kinase activity TAS 8824585
GO:0008283 cell proliferation IMP 24362026
genes like me logo Genes that share ontologies with MAP4K1: view

Drugs & Compounds for MAP4K1 Gene

(4) Drugs for MAP4K1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0
genes like me logo Genes that share compounds with MAP4K1: view

Transcripts for MAP4K1 Gene

Unigene Clusters for MAP4K1 Gene

Mitogen-activated protein kinase kinase kinase kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP4K1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6: -

Relevant External Links for MAP4K1 Gene

GeneLoc Exon Structure for
MAP4K1
ECgene alternative splicing isoforms for
MAP4K1

Expression for MAP4K1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAP4K1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAP4K1 Gene

This gene is overexpressed in Whole Blood (x9.0), Spleen (x8.5), and Small Intestine - Terminal Ileum (x4.2).

Protein differential expression in normal tissues from HIPED for MAP4K1 Gene

This gene is overexpressed in Lymph node (30.4), Peripheral blood mononuclear cells (16.5), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAP4K1 Gene



Protein tissue co-expression partners for MAP4K1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAP4K1 Gene:

MAP4K1

SOURCE GeneReport for Unigene cluster for MAP4K1 Gene:

Hs.95424

mRNA Expression by UniProt/SwissProt for MAP4K1 Gene:

Q92918-M4K1_HUMAN
Tissue specificity: Expressed primarily in hematopoietic organs, including bone marrow, spleen and thymus. Also expressed at very low levels in lung, kidney, mammary glands and small intestine.

Evidence on tissue expression from TISSUES for MAP4K1 Gene

  • Blood(2.4)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with MAP4K1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP4K1 Gene

Orthologs for MAP4K1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAP4K1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAP4K1 34 35
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia MAP4K1 34 35
  • 89.8 (n)
dog
(Canis familiaris)
Mammalia MAP4K1 34 35
  • 89.8 (n)
rat
(Rattus norvegicus)
Mammalia Map4k1 34
  • 84.98 (n)
mouse
(Mus musculus)
Mammalia Map4k1 34 16 35
  • 84.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAP4K1 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAP4K1 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAP4K1 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia map4k1 34
  • 57.69 (n)
zebrafish
(Danio rerio)
Actinopterygii MAP4K1 35
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7097 36
  • 52 (a)
hppy 35
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gck-2 35
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIC1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for MAP4K1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAP4K1 Gene

ENSEMBL:
Gene Tree for MAP4K1 (if available)
TreeFam:
Gene Tree for MAP4K1 (if available)

Paralogs for MAP4K1 Gene

Variants for MAP4K1 Gene

Sequence variations from dbSNP and Humsavar for MAP4K1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_040742 A metastatic melanoma sample
rs188314477 Likely benign 38,587,555(+) CTACG(C/T)CCCCC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs751549832 Likely benign 38,587,402(+) CAGTA(C/T)GAGGA downstream-variant-500B, reference, synonymous-codon
rs1057519258 Uncertain significance 38,587,376(+) TCCCA(A/G)CTGGT downstream-variant-500B, reference, missense
rs201765762 Uncertain significance 38,587,401(+) GCAGT(A/G)TGAGG downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MAP4K1 Gene

Variant ID Type Subtype PubMed ID
dgv1780n106 CNV duplication 24896259
dgv3526n100 CNV gain 25217958
nsv1114005 CNV deletion 24896259
nsv1125672 CNV tandem duplication 24896259
nsv470140 CNV gain 18288195
nsv833824 CNV loss 17160897
nsv833826 CNV loss 17160897
nsv833827 CNV gain 17160897
nsv833828 CNV loss 17160897
nsv953298 CNV deletion 24416366

Variation tolerance for MAP4K1 Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.19; 39.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAP4K1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP4K1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP4K1 Gene

Disorders for MAP4K1 Gene

Relevant External Links for MAP4K1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAP4K1

No disorders were found for MAP4K1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAP4K1 Gene

Publications for MAP4K1 Gene

  1. Human HPK1, a novel human hematopoietic progenitor kinase that activates the JNK/SAPK kinase cascade. (PMID: 8824585) Hu M.C.-T. … Tan T.-H. (Genes Dev. 1996) 2 3 4 22 64
  2. The CUL7/F-box and WD repeat domain containing 8 (CUL7/Fbxw8) ubiquitin ligase promotes degradation of hematopoietic progenitor kinase 1. (PMID: 24362026) Wang H. … Wang H. (J. Biol. Chem. 2014) 3 4 64
  3. Proteasome-mediated degradation and functions of hematopoietic progenitor kinase 1 in pancreatic cancer. (PMID: 19141650) Wang H. … Wang H. (Cancer Res. 2009) 3 22 64
  4. Phosphorylation of CARMA1 by HPK1 is critical for NF-kappaB activation in T cells. (PMID: 19706536) Brenner D. … Arnold R. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 22 64
  5. Recruitment of Sprouty1 to immune synapse regulates T cell receptor signaling. (PMID: 19915061) Lee J.S. … Choi K. (J. Immunol. 2009) 3 22 64

Products for MAP4K1 Gene

Sources for MAP4K1 Gene

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