U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 64149, updated on 10-Dec-2024

Summary

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; cytosol; and trans-Golgi network. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in testis (RPKM 4.3), thyroid (RPKM 4.1) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See C17orf75 in Genome Data Viewer
Location:
17q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32328441..32350014, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33274212..33295818, complement)
RS_2024_09 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_022344.4NP_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:46390
    Njmu-R1; Mjmu-R1-like protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_005258022.5XP_005258079.1  protein Njmu-R1 isoform X1

    Conserved Domains (1) summary
    pfam15053
    Location:38382
    Njmu-R1; Mjmu-R1-like protein family
  2. XM_017024941.3XP_016880430.1  protein Njmu-R1 isoform X2

  3. XM_017024940.3XP_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_054316899.1XP_054172874.1  protein Njmu-R1 isoform X1

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

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