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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
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Genomic context

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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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