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Aliases for UHMK1 Gene

Aliases for UHMK1 Gene

  • U2AF Homology Motif Kinase 1 2 3 4 5
  • PAM COOH-Terminal Interactor Protein 2 3 4
  • U2AF Homology Motif (UHM) Kinase 1 2 3
  • P-CIP2 3 4
  • KIST 3 4
  • KIS 3 4
  • Kinase Interacting With Leukemia-Associated Gene (Stathmin) 3
  • Serine/Threonine-Protein Kinase Kist 3
  • Kinase Interacting With Stathmin 4
  • KIS Protein Kinase 3
  • EC 4

External Ids for UHMK1 Gene

Previous GeneCards Identifiers for UHMK1 Gene

  • GC01P159200
  • GC01P160734
  • GC01P133712

Summaries for UHMK1 Gene

Entrez Gene Summary for UHMK1 Gene

  • The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for UHMK1 Gene

UHMK1 (U2AF Homology Motif Kinase 1) is a Protein Coding gene. Diseases associated with UHMK1 include Median Arcuate Ligament Syndrome and Dracunculiasis. Among its related pathways are GPCR Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is U2AF2.

UniProtKB/Swiss-Prot for UHMK1 Gene

  • Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity).

Gene Wiki entry for UHMK1 Gene

Additional gene information for UHMK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UHMK1 Gene

Genomics for UHMK1 Gene

GeneHancer (GH) Regulatory Elements for UHMK1 Gene

Promoters and enhancers for UHMK1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I162497 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.2 +1.1 1146 2.5 SMAD1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 POLR2B UHMK1 LOC105371497 HSPA7 GC01P162525
GH01I162536 Enhancer 1.1 FANTOM5 Ensembl ENCODE 27.8 +41.1 41123 4.4 ZNF449 JUN CEBPG GTF3C2 FOSL1 POLR3A POLR2A SCRT2 TRIM24 CEBPB UHMK1 SH2D1B UAP1 UQCRBP2 GC01P162525
GH01I162628 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 +135.2 135239 6.8 HDGF ARNT IRF4 ZNF766 ZNF207 ATF7 FOS RUNX3 JUNB REST DDR2 DUSP12 UHMK1 SH2D1B RN7SL861P
GH01I162560 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 +64.6 64557 3.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 GC01M162560 LOC102724358 UAP1 DUSP12 DDR2 UHMK1 OLFML2B ENSG00000272574
GH01I162021 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.6 -474.2 -474239 3.9 PKNOX1 SIN3A ZNF2 ZNF48 GLIS2 KLF7 SP3 ZNF518A ZNF610 GLIS1 OLFML2B DUSP12 USP21 PPOX PCP4L1 UHMK1 PIR31181
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UHMK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UHMK1 gene promoter:

Genomic Locations for UHMK1 Gene

Genomic Locations for UHMK1 Gene
32,456 bases
Plus strand

Genomic View for UHMK1 Gene

Genes around UHMK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UHMK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UHMK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UHMK1 Gene

Proteins for UHMK1 Gene

  • Protein details for UHMK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine/threonine-protein kinase Kist
    Protein Accession:
    Secondary Accessions:
    • A0A0A6YYC2
    • A8K8K4
    • G3V1M1
    • Q96C22

    Protein attributes for UHMK1 Gene

    419 amino acids
    Molecular mass:
    46546 Da
    Quaternary structure:
    • Interacts with stathmin and CDKN1B/p27Kip1 (By similarity). Interacts with PAM.

    Alternative splice isoforms for UHMK1 Gene


neXtProt entry for UHMK1 Gene

Post-translational modifications for UHMK1 Gene

  • Ubiquitination at isoforms=2, 3183, posLast=383383, and posLast=397397
  • Modification sites at PhosphoSitePlus

Other Protein References for UHMK1 Gene

No data available for DME Specific Peptides for UHMK1 Gene

Domains & Families for UHMK1 Gene

Gene Families for UHMK1 Gene

Suggested Antigen Peptide Sequences for UHMK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with UHMK1: view

Function for UHMK1 Gene

Molecular function for UHMK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity).

Enzyme Numbers (IUBMB) for UHMK1 Gene

Phenotypes From GWAS Catalog for UHMK1 Gene

Gene Ontology (GO) - Molecular Function for UHMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA 12093740
GO:0005515 protein binding IPI 12093740
genes like me logo Genes that share ontologies with UHMK1: view
genes like me logo Genes that share phenotypes with UHMK1: view

Animal Models for UHMK1 Gene

MGI Knock Outs for UHMK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for UHMK1

CRISPR Products

miRNA for UHMK1 Gene

miRTarBase miRNAs that target UHMK1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UHMK1 Gene

Localization for UHMK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UHMK1 Gene

Subcellular locations from

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 UHMK1 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UHMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000243 commitment complex IBA --
GO:0005634 nucleus IDA 12093740
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0016607 nuclear speck IBA --
genes like me logo Genes that share ontologies with UHMK1: view

Pathways & Interactions for UHMK1 Gene

SuperPathways for UHMK1 Gene

SuperPathway Contained pathways
1 GPCR Pathway
genes like me logo Genes that share pathways with UHMK1: view

Pathways by source for UHMK1 Gene

1 Qiagen pathway for UHMK1 Gene

SIGNOR curated interactions for UHMK1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for UHMK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007050 cell cycle arrest IMP 12093740
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation ISS --
GO:0031175 neuron projection development ISS --
genes like me logo Genes that share ontologies with UHMK1: view

Drugs & Compounds for UHMK1 Gene

No Compound Related Data Available

Transcripts for UHMK1 Gene

Unigene Clusters for UHMK1 Gene

U2AF homology motif (UHM) kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UHMK1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP3: -

Relevant External Links for UHMK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UHMK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UHMK1 Gene

Protein differential expression in normal tissues from HIPED for UHMK1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UHMK1 Gene

Protein tissue co-expression partners for UHMK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UHMK1 Gene:


SOURCE GeneReport for Unigene cluster for UHMK1 Gene:


mRNA Expression by UniProt/SwissProt for UHMK1 Gene:

Tissue specificity: Widely expressed, with highest levels in skeletal muscle, kidney, placenta and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for UHMK1 Gene

  • Skin(4.3)
  • Eye(4.2)
  • Nervous system(4.2)
  • Stomach(3.4)
  • Liver(2.5)
  • Blood(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with UHMK1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UHMK1 Gene

Orthologs for UHMK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UHMK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UHMK1 33 34
  • 99.68 (n)
(Bos Taurus)
Mammalia UHMK1 33 34
  • 95.94 (n)
(Canis familiaris)
Mammalia UHMK1 33 34
  • 95.78 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
-- 34
  • 90 (a)
(Mus musculus)
Mammalia Uhmk1 33 16 34
  • 93 (n)
(Rattus norvegicus)
Mammalia Uhmk1 33
  • 92.6 (n)
(Gallus gallus)
Aves UHMK1 33 34
  • 81.62 (n)
(Anolis carolinensis)
Reptilia UHMK1 34
  • 77 (a)
(Danio rerio)
Actinopterygii uhmk1 33 34
  • 69.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta LS2 34
  • 18 (a)
(Caenorhabditis elegans)
Secernentea uaf-1 34
  • 17 (a)
Species where no ortholog for UHMK1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UHMK1 Gene

Gene Tree for UHMK1 (if available)
Gene Tree for UHMK1 (if available)

Paralogs for UHMK1 Gene

Paralogs for UHMK1 Gene

(1) SIMAP similar genes for UHMK1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UHMK1: view

Variants for UHMK1 Gene

Sequence variations from dbSNP and Humsavar for UHMK1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs869312863 likely-pathogenic, Cerebral visual impairment and intellectual disability 162,522,504(+) C/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000016631 -- 162,513,544(+) A/G intron_variant
rs1000075882 -- 162,507,354(+) G/A intron_variant
rs1000325456 -- 162,513,261(+) T/A/C intron_variant
rs1000371584 -- 162,528,400(+) A/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for UHMK1 Gene

Variant ID Type Subtype PubMed ID
esv2758973 CNV gain 17122850
nsv159160 CNV deletion 16902084
nsv516482 CNV gain+loss 19592680
nsv946473 CNV duplication 23825009

Variation tolerance for UHMK1 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UHMK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UHMK1 Gene

Disorders for UHMK1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for UHMK1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
median arcuate ligament syndrome
  • celiac artery compression syndrome
  • dracontiasis
maxillary sinus cancer
  • malignant neoplasm of antrum
paranasal sinus cancer
  • adenoid cystic carcinoma of accessory sinus
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search UHMK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UHMK1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UHMK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UHMK1 Gene

Publications for UHMK1 Gene

  1. Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human. (PMID: 12782393) Bièche I … Maucuer A (Brain research. Molecular brain research 2003) 2 3 4 22 58
  2. Expression of kinase interacting with stathmin (KIS, UHMK1) in human brain and lymphoblasts: Effects of schizophrenia and genotype. (PMID: 19747464) Bristow GC … Eastwood SL (Brain research 2009) 3 22 44 58
  3. Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3. (PMID: 18414510) Puri V … Gurling H (European journal of human genetics : EJHG 2008) 3 22 44 58
  4. A growth factor-dependent nuclear kinase phosphorylates p27(Kip1) and regulates cell cycle progression. (PMID: 12093740) Boehm M … Nabel EG (The EMBO journal 2002) 2 3 4 58
  5. The CATS (FAM64A) protein is a substrate of the Kinase Interacting Stathmin (KIS). (PMID: 23419774) Archangelo LF … Saad ST (Biochimica et biophysica acta 2013) 3 4 58

Products for UHMK1 Gene

  • Addgene plasmids for UHMK1

Sources for UHMK1 Gene

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