This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] See more...

Aliases for UNKL Gene

Aliases for UNKL Gene

  • Unk Like Zinc Finger 2 3 5
  • Zinc Finger CCCH Domain-Containing Protein 5-Like 3 4
  • Putative E3 Ubiquitin-Protein Ligase UNKL 3 4
  • RING Finger Protein Unkempt-Like 3 4
  • C16orf28 3 4
  • ZC3HDC5L 3 4
  • ZC3H5L 3 4
  • Chromosome 16 Open Reading Frame 28 2
  • Unkempt Homolog (Drosophila)-Like 2
  • Unkempt Family Zinc Finger-Like 3
  • Unkempt Family Like Zinc Finger 2
  • Unkempt Homolog-Like 3
  • EC 2.3.2.- 4

External Ids for UNKL Gene

Previous HGNC Symbols for UNKL Gene

  • C16orf28

Previous GeneCards Identifiers for UNKL Gene

  • GC16M001449
  • GC16M001373
  • GC16M001358
  • GC16M001414
  • GC16M001343
  • GC16M001418
  • GC16M001419
  • GC16M001420
  • GC16M001422
  • GC16M001427
  • GC16M001428
  • GC16M001432

Summaries for UNKL Gene

Entrez Gene Summary for UNKL Gene

  • This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

GeneCards Summary for UNKL Gene

UNKL (Unk Like Zinc Finger) is a Protein Coding gene. Diseases associated with UNKL include Mucolipidosis Iii Gamma and Mucolipidosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is UNK.

UniProtKB/Swiss-Prot Summary for UNKL Gene

  • May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven.

Gene Wiki entry for UNKL Gene

Additional gene information for UNKL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UNKL Gene

Genomics for UNKL Gene

GeneHancer (GH) Regulatory Elements for UNKL Gene

Promoters and enhancers for UNKL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UNKL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UNKL

Top Transcription factor binding sites by QIAGEN in the UNKL gene promoter:
  • AML1a
  • AREB6
  • Arnt
  • ATF6
  • Egr-1
  • En-1
  • FOXL1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for UNKL Gene

Genomic Locations for UNKL Gene
chr16:1,363,205-1,414,751
(GRCh38/hg38)
Size:
51,547 bases
Orientation:
Minus strand
chr16:1,413,206-1,464,752
(GRCh37/hg19)
Size:
51,547 bases
Orientation:
Minus strand

Genomic View for UNKL Gene

Genes around UNKL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UNKL Gene

Proteins for UNKL Gene

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

    Protein Symbol:
    Q9H9P5-UNKL_HUMAN
    Recommended name:
    Putative E3 ubiquitin-protein ligase UNKL
    Protein Accession:
    Q9H9P5
    Secondary Accessions:
    • B0QYN6
    • B1GXI8
    • Q96EV1
    • Q96RZ1
    • Q9BWL5
    • Q9H5K0
    • Q9UJJ8

    Protein attributes for UNKL Gene

    Size:
    680 amino acids
    Molecular mass:
    73828 Da
    Quaternary structure:
    • Isoform 4 (C-terminal) interacts with the GTP-bound form of RAC1. Isoform 4 (C-terminal) interacts with SMARCD2/BAF60b.
    Miscellaneous:
    • [Isoform 4]: Splice site between exons 6 and 7 is non-canonical.

    Alternative splice isoforms for UNKL Gene

neXtProt entry for UNKL Gene

Post-translational modifications for UNKL Gene

  • Isoform 4 is ubiquitinated in the C-terminal. Ubiquitination is enhanced by activated RAC1. The presence of the RING finger domain is not essential for ubiquitination to occur.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UNKL Gene

Domains & Families for UNKL Gene

Gene Families for UNKL Gene

Protein Domains for UNKL Gene

Blocks:
  • Zn-finger, RING
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNKL Gene

GenScript: Design optimal peptide antigens:
  • Unkempt homolog (Drosophila)-like (B1AK37_HUMAN)
  • Putative E3 ubiquitin-protein ligase UNKL (UNKL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9P5

UniProtKB/Swiss-Prot:

UNKL_HUMAN :
  • Although this protein contains a RING domain, intrinsic E3 ligase activity has not been proven.
  • Belongs to the unkempt family.
Domain:
  • Although this protein contains a RING domain, intrinsic E3 ligase activity has not been proven.
Family:
  • Belongs to the unkempt family.
genes like me logo Genes that share domains with UNKL: view

Function for UNKL Gene

Molecular function for UNKL Gene

UniProtKB/Swiss-Prot Function:
May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven.

Enzyme Numbers (IUBMB) for UNKL Gene

Phenotypes From GWAS Catalog for UNKL Gene

Gene Ontology (GO) - Molecular Function for UNKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20148946
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UNKL: view
genes like me logo Genes that share phenotypes with UNKL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNKL

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UNKL Gene

Localization for UNKL Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNKL Gene

[Isoform 4]: Cytoplasm. Nucleus. Note=Isoform 4 is primarily localized in the cytoplasm but has the ability to shuttle between the nucleus and the cytoplasm.

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 UNKL gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UNKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with UNKL: view

Pathways & Interactions for UNKL Gene

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

UniProtKB/Swiss-Prot Q9H9P5-UNKL_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UNKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with UNKL: view

No data available for SIGNOR curated interactions for UNKL Gene

Drugs & Compounds for UNKL Gene

No Compound Related Data Available

Transcripts for UNKL Gene

mRNA/cDNA for UNKL Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNKL

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -
SP3: - -
SP4: -
SP5: - - -

Relevant External Links for UNKL Gene

GeneLoc Exon Structure for
UNKL

Expression for UNKL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UNKL Gene

This gene is overexpressed in Placenta (66.5).

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



Protein tissue co-expression partners for UNKL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UNKL

SOURCE GeneReport for Unigene cluster for UNKL Gene:

Hs.643536

Evidence on tissue expression from TISSUES for UNKL Gene

  • Liver(4)
genes like me logo Genes that share expression patterns with UNKL: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UNKL Gene

Orthologs for UNKL Gene

This gene was present in the common ancestor of animals.

Orthologs for UNKL Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Unkl 17 31 30
  • 82.84 (n)
Gm5819 31
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia UNKL 31 30
  • 82.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Unkl 30
  • 82.74 (n)
dog
(Canis familiaris)
Mammalia UNKL 31 30
  • 82.02 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UNKL 31
  • 57 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UNKL 31
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNKL 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNKL 31 30
  • 70.2 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia unkl 30
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii unkl 30
  • 65.1 (n)
UNKL 31
  • 54 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10310 30
fruit fly
(Drosophila melanogaster)
Insecta unk 31
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C34D10.2 31
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for UNKL 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 UNKL Gene

ENSEMBL:
Gene Tree for UNKL (if available)
TreeFam:
Gene Tree for UNKL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UNKL: view image

Paralogs for UNKL Gene

Paralogs for UNKL Gene

(1) SIMAP similar genes for UNKL Gene using alignment to 4 proteins:

  • UNKL_HUMAN
  • D6RA68_HUMAN
  • E2QRG9_HUMAN
  • E9PDK2_HUMAN
genes like me logo Genes that share paralogs with UNKL: view

Variants for UNKL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UNKL Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs539354203 Uncertain Significance: Mucolipidosis III Gamma 1,363,347(-) T/TA NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs7192408 Likely Benign: Mucolipidosis III Gamma 1,363,315(-) T/C NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs886051685 Uncertain Significance: Mucolipidosis III Gamma 1,363,197(-) GACAAA/G THREE_PRIME_UTR_VARIANT
rs886051686 Uncertain Significance: Mucolipidosis III Gamma 1,363,296(-) T/C NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for UNKL Gene

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

Variant ID Type Subtype PubMed ID
dgv1286n106 CNV deletion 24896259
dgv2692n100 CNV gain 25217958
dgv322e201 CNV deletion 23290073
dgv473e214 CNV loss 21293372
dgv4850n54 CNV loss 21841781
dgv4851n54 CNV loss 21841781
dgv4852n54 CNV gain+loss 21841781
dgv4853n54 CNV loss 21841781
esv1002378 CNV gain 20482838
esv1006152 CNV deletion 20482838
esv1007015 CNV deletion 20482838
esv1590891 CNV deletion 17803354
esv2422427 CNV duplication 17116639
esv24901 CNV gain 19812545
esv2606593 CNV deletion 19546169
esv2750334 CNV deletion 23290073
esv2750336 CNV deletion 23290073
esv2750338 CNV deletion 23290073
esv2750339 CNV deletion 23290073
esv2750341 CNV deletion 23290073
esv2750342 CNV deletion 23290073
esv2762143 CNV gain 21179565
esv2914 CNV loss 18987735
esv3208235 CNV deletion 24192839
esv3552993 CNV deletion 23714750
esv3637616 CNV gain 21293372
esv8940 CNV loss 19470904
nsv1046314 CNV loss 25217958
nsv1069896 CNV deletion 25765185
nsv1069897 CNV deletion 25765185
nsv1071249 CNV deletion 25765185
nsv1130693 CNV deletion 24896259
nsv1138406 CNV deletion 24896259
nsv1143801 CNV deletion 24896259
nsv428316 CNV gain+loss 18775914
nsv457331 CNV loss 19166990
nsv471066 CNV loss 18288195
nsv512419 CNV loss 21212237
nsv571144 CNV gain 21841781
nsv571160 CNV loss 21841781
nsv819259 CNV gain 19587683
nsv819318 CNV loss 19587683
nsv819844 CNV gain 19587683
nsv827493 CNV gain 20364138
nsv952899 CNV deletion 24416366

Variation tolerance for UNKL Gene

Gene Damage Index Score: 2.91; 48.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNKL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UNKL Gene

MalaCards: The human disease database

(2) MalaCards diseases for UNKL Gene - From: GeneCards

Disorder Aliases PubMed IDs
mucolipidosis iii gamma
  • mucolipidosis iii
mucolipidosis
- elite association - COSMIC cancer census association via MalaCards
Search UNKL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UNKL

genes like me logo Genes that share disorders with UNKL: view

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

Publications for UNKL Gene

  1. The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt. (PMID: 20148946) Lorès P … Gacon G (The FEBS journal 2010) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4 54
  5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 54

Products for UNKL Gene

Sources for UNKL Gene