Aliases for C17orf75 Gene

Aliases for C17orf75 Gene

  • Chromosome 17 Open Reading Frame 75 2 3 5
  • Sensitization To Ricin Complex Subunit 2 2 3
  • Protein Njmu-R1 3 4
  • Spermatogenesis-Related Protein 3
  • NJMU-R1 3
  • SRI2 3

External Ids for C17orf75 Gene

Previous GeneCards Identifiers for C17orf75 Gene

  • GC17M027683
  • GC17M030658
  • GC17M026845

Summaries for C17orf75 Gene

GeneCards Summary for C17orf75 Gene

C17orf75 (Chromosome 17 Open Reading Frame 75) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for C17orf75 Gene

  • As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis.

Additional gene information for C17orf75 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C17orf75 Gene

Genomics for C17orf75 Gene

GeneHancer (GH) Regulatory Elements for C17orf75 Gene

Promoters and enhancers for C17orf75 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 C17orf75 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C17orf75 gene promoter:
  • AP-4
  • CREB
  • HOXA9
  • Ik-3
  • LCR-F1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU2F1
  • POU2F1a

Genomic Locations for C17orf75 Gene

Genomic Locations for C17orf75 Gene
chr17:32,324,565-32,350,047
(GRCh38/hg38)
Size:
25,483 bases
Orientation:
Minus strand
chr17:30,651,584-30,677,042
(GRCh37/hg19)
Size:
25,459 bases
Orientation:
Minus strand

Genomic View for C17orf75 Gene

Genes around C17orf75 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf75 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf75 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf75 Gene

Proteins for C17orf75 Gene

  • Protein details for C17orf75 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAS0-NJMU_HUMAN
    Recommended name:
    Protein Njmu-R1
    Protein Accession:
    Q9HAS0
    Secondary Accessions:
    • Q7Z2H4

    Protein attributes for C17orf75 Gene

    Size:
    396 amino acids
    Molecular mass:
    44622 Da
    Quaternary structure:
    • Component of the complex WDR11 composed of C17orf75, FAM91A1 and WDR11; FAM91A1 and WDR11 are required for proper location of the complex (PubMed:29426865). Interacts with TBC1D23; this interaction may be indirect and recruits TBC1D23 to AP-1-derived vesicles (PubMed:29084197, PubMed:29426865).
    SequenceCaution:
    • Sequence=AAG23214.1; Type=Frameshift; Positions=362; Evidence={ECO:0000305};

neXtProt entry for C17orf75 Gene

Post-translational modifications for C17orf75 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C17orf75 Gene

Domains & Families for C17orf75 Gene

Gene Families for C17orf75 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for C17orf75 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C17orf75 Gene

GenScript: Design optimal peptide antigens:
  • Protein Njmu-R1 (NJMU_HUMAN)
genes like me logo Genes that share domains with C17orf75: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C17orf75 Gene

Function for C17orf75 Gene

Molecular function for C17orf75 Gene

UniProtKB/Swiss-Prot Function:
As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis.

Phenotypes From GWAS Catalog for C17orf75 Gene

Gene Ontology (GO) - Molecular Function for C17orf75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 29084197
genes like me logo Genes that share ontologies with C17orf75: view
genes like me logo Genes that share phenotypes with C17orf75: view

Animal Model Products

CRISPR Products

miRNA for C17orf75 Gene

miRTarBase miRNAs that target C17orf75

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C17orf75

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C17orf75 Gene

Localization for C17orf75 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C17orf75 Gene

Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle.

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 C17orf75 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for C17orf75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 29426865
GO:0031410 cytoplasmic vesicle IDA,IEA 29426865
genes like me logo Genes that share ontologies with C17orf75: view

Pathways & Interactions for C17orf75 Gene

PathCards logo

SuperPathways for C17orf75 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C17orf75 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IDA 29426865
GO:0099041 vesicle tethering to Golgi IDA 29426865
genes like me logo Genes that share ontologies with C17orf75: view

No data available for Pathways by source and SIGNOR curated interactions for C17orf75 Gene

Drugs & Compounds for C17orf75 Gene

No Compound Related Data Available

Transcripts for C17orf75 Gene

mRNA/cDNA for C17orf75 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C17orf75

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf75 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for C17orf75 Gene

GeneLoc Exon Structure for
C17orf75
ECgene alternative splicing isoforms for
C17orf75

Expression for C17orf75 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C17orf75 Gene

Protein differential expression in normal tissues from HIPED for C17orf75 Gene

This gene is overexpressed in Pancreas (11.0), Skin (8.9), Bone (7.3), and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C17orf75 Gene



NURSA nuclear receptor signaling pathways regulating expression of C17orf75 Gene:

C17orf75

SOURCE GeneReport for Unigene cluster for C17orf75 Gene:

Hs.655257

mRNA Expression by UniProt/SwissProt for C17orf75 Gene:

Q9HAS0-NJMU_HUMAN
Tissue specificity: Highly expressed in testis and also expressed in fetal testis.

Evidence on tissue expression from TISSUES for C17orf75 Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with C17orf75: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C17orf75 Gene

Orthologs for C17orf75 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C17orf75 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf75 32
  • 99.49 (n)
C17orf75 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf75 32
  • 91.58 (n)
C17orf75 33
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 5730455P16Rik 17 33 32
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia RGD1310429 32
  • 88.35 (n)
cow
(Bos Taurus)
Mammalia C19H17orf75 32
  • 88.3 (n)
C17orf75 33
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf75 33
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C17orf75 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18H17ORF75 32
  • 73.28 (n)
C17orf75 33
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf75 33
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3785 32
zebrafish
(Danio rerio)
Actinopterygii zgc:153240 32
  • 59.89 (n)
C3H17orf75 33
  • 52 (a)
OneToOne
wufj62a01 32
Species where no ortholog for C17orf75 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C17orf75 Gene

ENSEMBL:
Gene Tree for C17orf75 (if available)
TreeFam:
Gene Tree for C17orf75 (if available)

Paralogs for C17orf75 Gene

(1) SIMAP similar genes for C17orf75 Gene using alignment to 9 proteins:

  • NJMU_HUMAN
  • J3KRR1_HUMAN
  • J3KT97_HUMAN
  • J3QKQ1_HUMAN
  • J3QRW7_HUMAN
  • J9JIC5_HUMAN
  • K7EII1_HUMAN
  • K7EIQ2_HUMAN
  • K7ERX0_HUMAN
genes like me logo Genes that share paralogs with C17orf75: view

No data available for Paralogs for C17orf75 Gene

Variants for C17orf75 Gene

Sequence variations from dbSNP and Humsavar for C17orf75 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000211226 -- 32,334,483(-) T/C coding_sequence_variant, missense_variant
rs1000411272 -- 32,334,911(-) T/C intron_variant
rs1000748106 -- 32,327,979(-) A/C downstream_transcript_variant
rs1000939445 -- 32,345,749(-) T/C genic_upstream_transcript_variant, intron_variant
rs1001251241 -- 32,329,192(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant

Variation tolerance for C17orf75 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C17orf75 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C17orf75

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C17orf75 Gene

Disorders for C17orf75 Gene

Additional Disease Information for C17orf75

No disorders were found for C17orf75 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf75 Gene

Publications for C17orf75 Gene

  1. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. (PMID: 29426865) Navarro Negredo P … Robinson MS (Nature communications 2018) 2 3 4 56
  2. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. (PMID: 29084197) Shin JJH … Munro S (Nature cell biology 2017) 3 4 56
  3. A systematic mammalian genetic interaction map reveals pathways underlying ricin susceptibility. (PMID: 23394947) Bassik MC … Weissman JS (Cell 2013) 2 3 56
  4. 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 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for C17orf75 Gene

Sources for C17orf75 Gene