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    C17orf75 chromosome 17 open reading frame 75 [ Homo sapiens (human) ]

    Gene ID: 64149, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C17orf75provided by HGNC
    Official Full Name
    chromosome 17 open reading frame 75provided by HGNC
    Primary source
    HGNC:HGNC:30173
    See related
    Ensembl:ENSG00000108666 AllianceGenome:HGNC:30173
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SRI2; NJMU-R1
    Summary
    Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 4.3), thyroid (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C17orf75 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32328441..32350014, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33274212..33295818, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30655460..30669192, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371731 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30602126-30602349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30606292-30607064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30607065-30607835 Neighboring gene rhomboid like 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30607836-30608607 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30616355-30617002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30625397-30626027 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30629544-30630417 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30630418-30631290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30649649-30650528 Neighboring gene uncharacterized LOC124903980 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30668222-30668404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30668873-30669759 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30673436-30673617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30679433-30679942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30681259-30681760 Neighboring gene oocyte secreted protein 1 pseudogene 2 Neighboring gene MPRA-validated peak2801 silencer Neighboring gene microRNA 632 Neighboring gene zinc finger protein 207 Neighboring gene nudix hydrolase 15 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A systematic mammalian genetic interaction map reveals pathways underlying ricin susceptibility. Bassik MC, et al. Cell, 2013 Feb 14. PMID 23394947, Free PMC Article
    2. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. Navarro Negredo P, et al. Nat Commun, 2018 Feb 9. PMID 29426865, Free PMC Article
    3. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. Shin JJH, et al. Nat Cell Biol, 2017 Dec. PMID 29084197, Free PMC Article
    4. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
    5. Quantitative Lys-ϵ-Gly-Gly (diGly) proteomics coupled with inducible RNAi reveals ubiquitin-mediated proteolysis of DNA damage-inducible transcript 4 (DDIT4) by the E3 ligase HUWE1. Thompson JW, et al. J Biol Chem, 2014 Oct 17. PMID 25147182, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle tethering to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle tethering to Golgi IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein Njmu-R1
    Names
    sensitization to ricin complex subunit 2
    spermatogenesis-related protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022344.4 → NP_071739.2  protein Njmu-R1

      See identical proteins and their annotated locations for NP_071739.2

      Status: VALIDATED

      Source sequence(s)
      AC005899, BC026017, BP308900, CA444740
      Consensus CDS
      CCDS58537.1
      UniProtKB/Swiss-Prot
      Q7Z2H4, Q9HAS0
      Related
      ENSP00000464275.1, ENST00000577809.6
      Conserved Domains (1) summary
      pfam15053
      Location:46 → 390
      Njmu-R1; Mjmu-R1-like protein family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      32328441..32350014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258022.5 → XP_005258079.1  protein Njmu-R1 isoform X1

      Conserved Domains (1) summary
      pfam15053
      Location:38 → 382
      Njmu-R1; Mjmu-R1-like protein family

    2. XM_017024941.3 → XP_016880430.1  protein Njmu-R1 isoform X2

    3. XM_017024940.3 → XP_016880429.1  protein Njmu-R1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      33274212..33295818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316899.1 → XP_054172874.1  protein Njmu-R1 isoform X1

    2. XM_054316901.1 → XP_054172876.1  protein Njmu-R1 isoform X2

    3. XM_054316900.1 → XP_054172875.1  protein Njmu-R1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAS0.2 GenPept UniProtKB/Swiss-Prot:Q9HAS0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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