C17orf75

Summary

C17orf75 (chromosome 17 open reading frame 75, HGNC:30173) is a protein-coding gene on chromosome 17q11.2, encoding Protein Njmu-R1 (Q9HAS0). As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1.

Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle; cytosol; and trans-Golgi network.

Source: NCBI Gene 64149 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 24 total — 1 pathogenic
• MANE Select transcript: NM_022344

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30173
Approved symbol	C17orf75
Name	chromosome 17 open reading frame 75
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	NJMU-R1, SRI2
Ensembl gene	ENSG00000108666
Ensembl biotype	protein_coding
Entrez	64149

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000577809, ENST00000578215, ENST00000580294, ENST00000580485, ENST00000580558, ENST00000581747, ENST00000582073, ENST00000582961, ENST00000583104, ENST00000583221, ENST00000583334, ENST00000583774, ENST00000925974, ENST00000950073

RefSeq mRNA: 1 — MANE Select: NM_022344 NM_022344

CCDS: CCDS58537

Canonical transcript exons

ENST00000577809 — 10 exons

Exon	Start	End
ENSE00000712722	32333417	32333520
ENSE00002706164	32342000	32342173
ENSE00002717715	32328441	32331978
ENSE00002765154	32334469	32334605
ENSE00002963318	32334775	32334839
ENSE00003470351	32341204	32341284
ENSE00003509582	32335323	32335442
ENSE00003567541	32337897	32337954
ENSE00003594646	32339813	32339938
ENSE00003641943	32338208	32338351

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 92.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7081 / max 162.6621, expressed in 1747 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165252	7.7338	1685
165253	0.8337	490
165251	0.6641	405
165254	0.4765	168

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	92.40	gold quality
left testis	UBERON:0004533	91.85	gold quality
ganglionic eminence	UBERON:0004023	91.70	gold quality
right adrenal gland cortex	UBERON:0035827	91.27	gold quality
right adrenal gland	UBERON:0001233	91.01	gold quality
adrenal tissue	UBERON:0018303	90.72	gold quality
right uterine tube	UBERON:0001302	90.60	gold quality
cortical plate	UBERON:0005343	90.54	gold quality
metanephros cortex	UBERON:0010533	90.20	gold quality
testis	UBERON:0000473	90.18	gold quality
ventricular zone	UBERON:0003053	90.07	gold quality
oocyte	CL:0000023	90.05	gold quality
left adrenal gland	UBERON:0001234	89.87	gold quality
adenohypophysis	UBERON:0002196	89.84	gold quality
left adrenal gland cortex	UBERON:0035825	89.69	gold quality
islet of Langerhans	UBERON:0000006	89.62	gold quality
right lobe of thyroid gland	UBERON:0001119	89.10	gold quality
right ovary	UBERON:0002118	88.61	gold quality
adrenal cortex	UBERON:0001235	88.48	gold quality
left ovary	UBERON:0002119	88.45	gold quality
left lobe of thyroid gland	UBERON:0001120	88.29	gold quality
prefrontal cortex	UBERON:0000451	88.27	gold quality
adrenal gland	UBERON:0002369	88.22	gold quality
body of pancreas	UBERON:0001150	88.17	gold quality
cerebellar hemisphere	UBERON:0002245	88.07	gold quality
cerebellar cortex	UBERON:0002129	87.93	gold quality
pituitary gland	UBERON:0000007	87.88	gold quality
granulocyte	CL:0000094	87.36	gold quality
body of stomach	UBERON:0001161	87.33	gold quality
thyroid gland	UBERON:0002046	87.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

159 targeting C17orf75, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-381-3P	99.93	71.87	2854

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C3H17orf75	ENSDARG00000061257
mus_musculus	5730455P16Rik	ENSMUSG00000057181
rattus_norvegicus	C10h17orf75	ENSRNOG00000000237

Protein

Protein identifiers

Protein Njmu-R1 — Q9HAS0 (reviewed: Q9HAS0)

All UniProt accessions (8): Q9HAS0, J3KRR1, J3KT97, J3QKQ1, J3QRW7, K7EII1, K7EIQ2, K7ERX0

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Component of the complex WDR11 composed of C17orf75, FAM91A1 and WDR11; FAM91A1 and WDR11 are required for proper location of the complex. Interacts with TBC1D23; this interaction may be indirect and recruits TBC1D23 to AP-1-derived vesicles.

Subcellular location. Golgi apparatus. trans-Golgi network. Cytoplasmic vesicle.

Tissue specificity. Highly expressed in testis and also expressed in fetal testis.

RefSeq proteins (1): NP_071739* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028280	Njmu-R1	Family

Pfam: PF15053

UniProt features (7 total): compositionally biased region 2, modified residue 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAS0-F1	77.44	0.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 8, 18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 173 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, MODULE_255, MODULE_317, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, chr17q11, GOCC_TRANS_GOLGI_NETWORK, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_ORGANELLE_LOCALIZATION, MODULE_69, BLALOCK_ALZHEIMERS_DISEASE_DN, GOCC_ORGANELLE_SUBCOMPARTMENT, KIM_WT1_TARGETS_DN

GO Biological Process (2): intracellular protein transport (GO:0006886), obsolete vesicle tethering to Golgi (GO:0099041)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
intracellular protein localization	1
protein transport	1
intracellular transport	1
binding	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
cellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

782 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C17orf75	TBC1D23	Q9NUY8	830
C17orf75	FAM91A1	Q658Y4	788
C17orf75	WDR11	Q9BZH6	720
C17orf75	DCAF10	Q5QP82	573
C17orf75	CYP20A1	Q6UW02	521
C17orf75	CIAO1	O76071	479
C17orf75	CACNG8	Q8WXS5	475
C17orf75	FKBP14	Q9NWM8	474
C17orf75	SYNJ2BP	P57105	462
C17orf75	CPD	O75976	458
C17orf75	GOLGA4	Q13439	447
C17orf75	GLG1	Q92896	441
C17orf75	RAB3IP	Q96QF0	438
C17orf75	KIAA0319L	Q8IZA0	435
C17orf75	CD163L1	Q9NR16	431

IntAct

53 interactions, top by confidence:

A	B	Type	Score
	C17orf75	psi-mi:“MI:0915”(physical association)	0.560
DUSP29	C17orf75	psi-mi:“MI:0915”(physical association)	0.560
C17orf75	COPS3	psi-mi:“MI:0915”(physical association)	0.560
MESD	C17orf75	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
LHFPL4	ATP5F1B	psi-mi:“MI:0914”(association)	0.530
C17orf75	FAM91A1	psi-mi:“MI:0914”(association)	0.530
SV2A	EXTL3	psi-mi:“MI:0914”(association)	0.530
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
DKKL1	VWA8	psi-mi:“MI:0914”(association)	0.350
GLMP	RTL8C	psi-mi:“MI:0914”(association)	0.350
SLC18A1	LIMK2	psi-mi:“MI:0914”(association)	0.350
FGF8	ANKHD1	psi-mi:“MI:0914”(association)	0.350
GPRC5C	NMT2	psi-mi:“MI:0914”(association)	0.350
FAS	PEX1	psi-mi:“MI:0914”(association)	0.350
C17orf75	AIFM1	psi-mi:“MI:0914”(association)	0.350
DLC1	LACC1	psi-mi:“MI:0914”(association)	0.350
DRG1	RPS3A	psi-mi:“MI:0914”(association)	0.350
SV2A	ILVBL	psi-mi:“MI:0914”(association)	0.350
LAGE3	HYKK	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
CD80	POTEF	psi-mi:“MI:0914”(association)	0.350
MGARP	RTL8C	psi-mi:“MI:0914”(association)	0.350
FIS1	QSOX1	psi-mi:“MI:0914”(association)	0.350
DDHD1	USP9Y	psi-mi:“MI:0914”(association)	0.350
SPANXN5	USP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), WDR11 (Affinity Capture-MS), FAM91A1 (Affinity Capture-MS), FAM91A1 (Affinity Capture-MS), WDR11 (Affinity Capture-MS), AIFM1 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS), C17orf75 (Affinity Capture-MS)

ESM2 similar proteins: A0A084B9Z8, A0A0A2JP58, A0A151ZEA6, A0A1L5YKS7, A0A386KZ50, A0A4D6IA24, C9K1X5, D8RNZ9, F1A1D4, F1A1D6, O36385, O43043, O49845, O60131, P0A3V2, P0A3V3, P12798, P13157, P25017, P25987, P30298, P32742, P34335, P38960, P39961, P46018, P46019, P49036, P9WEY4, P9WEY5, P9WEY6, Q04564, Q05930, Q09797, Q10144, Q18LE8, Q196W7, Q41607, Q42652, Q6FVG5

Diamond homologs: Q9CYI0, Q9HAS0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

24 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	Pathogenic

SpliceAI

1512 predictions. Top by Δscore:

Variant	Effect	Δscore
17:32331899:A:C	acceptor_gain	1.0000
17:32334838:GCCT:G	acceptor_loss	1.0000
17:32334840:C:CC	acceptor_gain	1.0000
17:32338283:A:AC	donor_gain	1.0000
17:32338284:C:CC	donor_gain	1.0000
17:32339811:A:AC	donor_gain	1.0000
17:32339812:C:CC	donor_gain	1.0000
17:32339940:T:C	acceptor_gain	1.0000
17:32342005:T:TA	donor_gain	1.0000
17:32333517:CTTC:C	acceptor_gain	0.9900
17:32334542:CA:C	acceptor_gain	0.9900
17:32334641:T:TC	acceptor_gain	0.9900
17:32334678:CTGGG:C	acceptor_gain	0.9900
17:32334838:GC:G	acceptor_gain	0.9900
17:32334839:CC:C	acceptor_gain	0.9900
17:32334841:T:G	acceptor_loss	0.9900
17:32338175:T:TA	donor_gain	0.9900
17:32338213:AAGT:A	donor_gain	0.9900
17:32338245:C:CT	donor_gain	0.9900
17:32338268:T:A	donor_gain	0.9900
17:32339805:GCAC:G	donor_loss	0.9900
17:32339806:CACTT:C	donor_loss	0.9900
17:32339807:ACTT:A	donor_loss	0.9900
17:32339808:CT:C	donor_loss	0.9900
17:32339809:TTA:T	donor_loss	0.9900
17:32339810:TACTT:T	donor_loss	0.9900
17:32339811:ACT:A	donor_loss	0.9900
17:32339812:C:T	donor_loss	0.9900
17:32339854:TG:T	donor_gain	0.9900
17:32339939:C:CC	acceptor_gain	0.9900

AlphaMissense

2640 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:32331936:C:G	A340P	0.997
17:32331893:A:G	L354P	0.996
17:32333421:A:G	L324P	0.995
17:32331906:A:G	C350R	0.994
17:32335400:A:G	W198R	0.994
17:32335400:A:T	W198R	0.994
17:32338242:A:G	C153R	0.993
17:32331904:A:C	C350W	0.992
17:32334603:A:G	F246S	0.992
17:32331803:A:G	L384P	0.991
17:32331793:G:C	F387L	0.990
17:32331793:G:T	F387L	0.990
17:32331795:A:G	F387L	0.990
17:32331803:A:T	L384H	0.990
17:32334591:G:T	A250D	0.990
17:32331935:G:T	A340E	0.989
17:32333423:T:A	K323N	0.989
17:32333423:T:G	K323N	0.989
17:32334838:G:T	A224D	0.989
17:32335325:C:G	A223P	0.989
17:32331893:A:C	L354R	0.988
17:32331978:C:G	A326P	0.988
17:32333506:A:G	C296R	0.988
17:32338238:A:G	F154S	0.988
17:32338326:A:C	Y125D	0.988
17:32331914:A:G	L347S	0.987
17:32333507:A:C	F295L	0.987
17:32333507:A:T	F295L	0.987
17:32333509:A:G	F295L	0.987
17:32331866:A:G	L363P	0.986

dbSNP variants (sampled 300 via entrez): RS1000211226 (17:32334483 T>C,G), RS1000411272 (17:32334911 T>C), RS1000748106 (17:32327979 A>C), RS1000939445 (17:32345749 T>A,C), RS1001251241 (17:32329192 G>A), RS1001303716 (17:32328910 A>C), RS1001395748 (17:32346287 G>A), RS1001517809 (17:32349380 G>T), RS1001578722 (17:32342808 C>A), RS1001885816 (17:32332934 T>G), RS1002257128 (17:32330378 C>T), RS1002515231 (17:32349200 C>T), RS1002561352 (17:32330023 A>G), RS1002780814 (17:32346341 G>A), RS1002790294 (17:32340655 A>AG)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Valproic Acid	decreases expression	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Air Pollutants	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Quercetin	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tretinoin	decreases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.