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

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, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 4.3), thyroid (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-33551 (e-PCR)
- UniSTS:3348

GDB:434012 (e-PCR)
- UniSTS:157204

RH91950 (e-PCR)
- UniSTS:84506

L17705 (e-PCR)
- UniSTS:66091

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

RH18407 (e-PCR)
- UniSTS:22893

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D17S1136 (e-PCR)
- UniSTS:473214

D17S1476E (e-PCR)
- UniSTS:39041

D17S610 (e-PCR)
- UniSTS:46230

L17809 (e-PCR)
- UniSTS:39087

GDB:335751 (e-PCR)
- UniSTS:156601

GDB:631802 (e-PCR)
- UniSTS:158429

D3S1673 (e-PCR)
- UniSTS:148450

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

Go to the top of the page Help

Preferred Names: protein Njmu-R1

Names: sensitization to ricin complex subunit 2; spermatogenesis-related protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

32328441..32350014 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_017024941.3 → XP_016880430.1 protein Njmu-R1 isoform X2
XM_017024940.3 → XP_016880429.1 protein Njmu-R1 isoform X2