Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NHSL1 Gene

Aliases for NHSL1 Gene

  • NHS Like 1 2 3 5
  • C6orf63 3 4
  • Chromosome 6 Open Reading Frame 63 2
  • NHS-Like Protein 1 3
  • KIAA1357 4

External Ids for NHSL1 Gene

Previous HGNC Symbols for NHSL1 Gene

  • C6orf63

Previous GeneCards Identifiers for NHSL1 Gene

  • GC06M138784
  • GC06M136304
  • GC06M138743

Summaries for NHSL1 Gene

GeneCards Summary for NHSL1 Gene

NHSL1 (NHS Like 1) is a Protein Coding gene. An important paralog of this gene is NHS.

Additional gene information for NHSL1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NHSL1 Gene

Genomics for NHSL1 Gene

Regulatory Elements for NHSL1 Gene

Enhancers for NHSL1 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
GH06H138535 1.8 FANTOM5 Ensembl ENCODE dbSUPER 26.6 +150.9 150892 12 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ZNF121 SLC30A9 FOS NHSL1 FLJ46906 PERP HEBP2 PBOV1 ENSG00000274594 LOC100129577
GH06H138549 1.2 ENCODE dbSUPER 27.6 +142.4 142374 1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 SP5 MXD4 REST MIER2 NHSL1 FLJ46906 ENSG00000274594 LOC100129577
GH06H138496 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +189.5 189488 13 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 NHSL1 PERP REPS1 ENSG00000274594 LOC100129577
GH06H138591 1.3 Ensembl ENCODE 17.4 +98.4 98427 4 FOXA2 SIN3A ARID4B DMAP1 SLC30A9 FOS ATF7 RUNX3 SP5 JUNB FLJ46906 NHSL1 CCDC28A PERP LOC100129577 ENSG00000274594
GH06H138588 1.1 Ensembl ENCODE 16.2 +103.6 103616 0 ELF3 RB1 ARID4B ZNF2 ZSCAN9 RAD21 EGR1 ZNF366 ZSCAN5C ZNF143 NHSL1 FLJ46906 PERP LOC100129577 ENSG00000274594
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NHSL1 on UCSC Golden Path with GeneCards custom track

Promoters for NHSL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203799 -84 2601 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B SLC30A9 GLIS2 ZNF143 SP3

Genomic Location for NHSL1 Gene

Chromosome:
6
Start:
138,422,043 bp from pter
End:
138,692,616 bp from pter
Size:
270,574 bases
Orientation:
Minus strand

Genomic View for NHSL1 Gene

Genes around NHSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NHSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHSL1 Gene

Proteins for NHSL1 Gene

  • Protein details for NHSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SYE7-NHSL1_HUMAN
    Recommended name:
    NHS-like protein 1
    Protein Accession:
    Q5SYE7
    Secondary Accessions:
    • Q3ZCS5
    • Q5SYE8
    • Q9P2J0

    Protein attributes for NHSL1 Gene

    Size:
    1610 amino acids
    Molecular mass:
    170668 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI12098.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12099.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14156.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14157.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NHSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NHSL1 Gene

Post-translational modifications for NHSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NHSL1 Gene

Domains & Families for NHSL1 Gene

Gene Families for NHSL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NHSL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NHSL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5SYE7

UniProtKB/Swiss-Prot:

NHSL1_HUMAN :
  • Belongs to the NHS family.
Family:
  • Belongs to the NHS family.
genes like me logo Genes that share domains with NHSL1: view

Function for NHSL1 Gene

Phenotypes From GWAS Catalog for NHSL1 Gene

Phenotypes for NHSL1 Gene

genes like me logo Genes that share phenotypes with NHSL1: view

Animal Models for NHSL1 Gene

MGI Knock Outs for NHSL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NHSL1 Gene

Localization for NHSL1 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 NHSL1 gene
Compartment Confidence
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NHSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with NHSL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NHSL1 Gene

Pathways & Interactions for NHSL1 Gene

SuperPathways for NHSL1 Gene

No Data Available

Interacting Proteins for NHSL1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000394546%0d%0a9606.ENSP00000233154%0d%0a
Selected Interacting proteins: ENSP00000394546 Q5SYE7-NHSL1_HUMAN for NHSL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for NHSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097475 motor neuron migration IBA --
genes like me logo Genes that share ontologies with NHSL1: view

No data available for Pathways by source and SIGNOR curated interactions for NHSL1 Gene

Drugs & Compounds for NHSL1 Gene

No Compound Related Data Available

Transcripts for NHSL1 Gene

Unigene Clusters for NHSL1 Gene

NHS-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NHSL1 Gene

No ASD Table

Relevant External Links for NHSL1 Gene

GeneLoc Exon Structure for
NHSL1
ECgene alternative splicing isoforms for
NHSL1

Expression for NHSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NHSL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NHSL1 Gene

This gene is overexpressed in Plasma (47.0) and Placenta (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NHSL1 Gene



Protein tissue co-expression partners for NHSL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NHSL1 Gene:

NHSL1

SOURCE GeneReport for Unigene cluster for NHSL1 Gene:

Hs.652741

mRNA Expression by UniProt/SwissProt for NHSL1 Gene:

Q5SYE7-NHSL1_HUMAN
Tissue specificity: Widely expressed. Expressed in adult and fetal brain, fetal eyes, adult lens, kidney, liver and intestine.

Evidence on tissue expression from TISSUES for NHSL1 Gene

  • Liver(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NHSL1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NHSL1 Gene

Orthologs for NHSL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NHSL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHSL1 33 34
  • 98.96 (n)
dog
(Canis familiaris)
Mammalia NHSL1 33 34
  • 83.7 (n)
cow
(Bos Taurus)
Mammalia NHSL1 33 34
  • 82.58 (n)
mouse
(Mus musculus)
Mammalia Nhsl1 33 16 34
  • 81.17 (n)
rat
(Rattus norvegicus)
Mammalia Nhsl1 33
  • 80.42 (n)
oppossum
(Monodelphis domestica)
Mammalia NHSL1 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 60 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves NHSL1 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NHSL1 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nhsl1 33
  • 54.57 (n)
zebrafish
(Danio rerio)
Actinopterygii nhsl1b 33 34
  • 60.01 (n)
nhsl1a 34
  • 34 (a)
OneToMany
Species where no ortholog for NHSL1 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NHSL1 Gene

ENSEMBL:
Gene Tree for NHSL1 (if available)
TreeFam:
Gene Tree for NHSL1 (if available)

Paralogs for NHSL1 Gene

Paralogs for NHSL1 Gene

genes like me logo Genes that share paralogs with NHSL1: view

Variants for NHSL1 Gene

Sequence variations from dbSNP and Humsavar for NHSL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000002182 -- 138,587,354(+) AAGTG(A/G)GTGGA intron-variant
rs1000004881 -- 138,627,860(+) TGGGC(A/G)ACAGA intron-variant
rs1000016156 -- 138,533,836(+) GCCAT(C/T)TTCCA intron-variant
rs1000022885 -- 138,548,339(+) GACTG(A/C)AAAGT intron-variant, upstream-variant-2KB
rs1000034519 -- 138,539,497(+) CCTTG(C/T)AACTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NHSL1 Gene

Variant ID Type Subtype PubMed ID
esv1934223 CNV deletion 18987734
esv2399126 CNV deletion 18987734
esv2469347 CNV deletion 19546169
esv2732769 CNV deletion 23290073
esv2732770 CNV deletion 23290073
esv2732771 CNV deletion 23290073
esv2752090 CNV gain 17911159
esv3610957 CNV loss 21293372
nsv1117668 CNV deletion 24896259
nsv1124122 CNV deletion 24896259
nsv5499 CNV deletion 18451855

Variation tolerance for NHSL1 Gene

Gene Damage Index Score: 4.65; 65.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NHSL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NHSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHSL1 Gene

Disorders for NHSL1 Gene

Relevant External Links for NHSL1

Genetic Association Database (GAD)
NHSL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NHSL1

No disorders were found for NHSL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NHSL1 Gene

Publications for NHSL1 Gene

  1. Identification of the gene for Nance-Horan syndrome (NHS). (PMID: 15466011) Brooks SP … Hardcastle AJ (Journal of medical genetics 2004) 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 60
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for NHSL1 Gene

Sources for NHSL1 Gene

Content
Loading form....