C1orf35

Summary

C1orf35 (chromosome 1 open reading frame 35, HGNC:19032) is a protein-coding gene on chromosome 1q42.13, encoding Multiple myeloma tumor-associated protein 2 (Q9BU76).

Enables RNA binding activity. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen.

Source: NCBI Gene 79169 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_024319

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19032
Approved symbol	C1orf35
Name	chromosome 1 open reading frame 35
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC4174, MMTAG2
Ensembl gene	ENSG00000143793
Ensembl biotype	protein_coding
Entrez	79169

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding_CDS_not_defined, 3 protein_coding

ENST00000272139, ENST00000465199, ENST00000469781, ENST00000472617, ENST00000485896, ENST00000491293, ENST00000492757, ENST00000917748, ENST00000945981

RefSeq mRNA: 1 — MANE Select: NM_024319 NM_024319

CCDS: CCDS1566

Canonical transcript exons

ENST00000272139 — 8 exons

Exon	Start	End
ENSE00001838681	228103134	228103325
ENSE00003497464	228100731	228101254
ENSE00003508855	228102643	228102688
ENSE00003524665	228101339	228101473
ENSE00003558284	228102478	228102560
ENSE00003569890	228102310	228102382
ENSE00003578016	228102899	228103049
ENSE00003611818	228102080	228102165

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 95.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5474 / max 125.9153, expressed in 1784 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17813	13.1607	1782
17814	0.3867	215

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.88	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.08	gold quality
cerebellar hemisphere	UBERON:0002245	90.57	gold quality
cerebellar cortex	UBERON:0002129	90.45	gold quality
lower esophagus mucosa	UBERON:0035834	89.59	gold quality
cerebellum	UBERON:0002037	89.18	gold quality
mucosa of transverse colon	UBERON:0004991	89.00	gold quality
granulocyte	CL:0000094	88.83	gold quality
skin of leg	UBERON:0001511	88.62	gold quality
skin of abdomen	UBERON:0001416	88.51	gold quality
left ovary	UBERON:0002119	87.71	gold quality
right ovary	UBERON:0002118	87.44	gold quality
esophagus mucosa	UBERON:0002469	87.17	gold quality
apex of heart	UBERON:0002098	86.79	gold quality
tibial nerve	UBERON:0001323	86.61	gold quality
right frontal lobe	UBERON:0002810	86.45	gold quality
body of uterus	UBERON:0009853	86.44	gold quality
parotid gland	UBERON:0001831	86.38	silver quality
right uterine tube	UBERON:0001302	86.31	gold quality
ectocervix	UBERON:0012249	86.20	gold quality
esophagus	UBERON:0001043	86.13	gold quality
zone of skin	UBERON:0000014	86.11	gold quality
endocervix	UBERON:0000458	86.09	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.05	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.82	gold quality
mucosa of stomach	UBERON:0001199	85.72	gold quality
body of stomach	UBERON:0001161	85.70	gold quality
lower esophagus	UBERON:0013473	85.58	gold quality
tibial artery	UBERON:0007610	85.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting C1orf35, 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-340-5P	100.00	72.50	4437
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-6819-3P	98.95	65.57	572
HSA-MIR-4701-5P	96.45	68.41	1121
HSA-MIR-588	96.45	68.36	1127

Literature-anchored findings (GeneRIF, showing 2)

• The study represents the first to use WES in multiplex families for preeclampsia and identifies two novel genes (QRFPR and C1orf35) not previously associated with preeclampsia and find nominal association of rs34270076 with protein levels. (PMID:30633125)
• C1orf35 contributes to tumorigenesis by activating c-MYC transcription in multiple myeloma. (PMID:32103167)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C2H1orf35	ENSDARG00000004525
mus_musculus	2310033P09Rik	ENSMUSG00000020441
rattus_norvegicus	C10h1orf35	ENSRNOG00000002944

Protein

Protein identifiers

Multiple myeloma tumor-associated protein 2 — Q9BU76 (reviewed: Q9BU76)

All UniProt accessions (1): Q9BU76

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BU76-1	1	yes
Q9BU76-2	2
Q9BU76-3	3
Q9BU76-4	4

RefSeq proteins (1): NP_077295* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019315	MMTA2_N	Domain
IPR039207	MMTAG2-like	Family

Pfam: PF10159

UniProt features (28 total): modified residue 8, splice variant 6, compositionally biased region 4, region of interest 3, cross-link 3, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BU76-F1	63.58	0.08

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 (11): 164, 215, 216, 217, 219, 220, 22, 104, 113, 123, 127

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 82 (showing top): ATF_B, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, CREB_Q4, MODULE_331, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, ATF1_Q6, ACEVEDO_LIVER_CANCER_UP, CREBP1CJUN_01, GOCC_SECRETORY_VESICLE, CREB_01, GOCC_VESICLE_LUMEN, ASGHARZADEH_NEUROBLASTOMA_POOR_SURVIVAL_DN, TGACGTCA_ATF3_Q6, CREB_Q2

GO Biological Process (0):

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), secretory granule lumen (GO:0034774), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1
binding	1
cellular anatomical structure	1
secretory granule	1
cytoplasmic vesicle lumen	1
intracellular organelle lumen	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf35	LRRC24	Q50LG9	446
C1orf35	ENKD1	Q9H0I2	431
C1orf35	LRRC14	Q15048	431
C1orf35	GLI4	P10075	417
C1orf35	CACFD1	Q9UGQ2	416
C1orf35	ZNF285	Q96NJ3	397
C1orf35	GOLGA8K	D6RF30	393
C1orf35	FAM163A	Q96GL9	392
C1orf35	C6orf47	O95873	383
C1orf35	SACK1H	Q6ZRV2	380
C1orf35	MRFAP1L1	Q96HT8	376
C1orf35	FAM228B	P0C875	370
C1orf35	SMIM14	Q96QK8	365
C1orf35	MINDY2	Q8NBR6	353
C1orf35	PAFAH1B3	Q15102	352

IntAct

218 interactions, top by confidence:

A	B	Type	Score
MMTAG2	THAP1	psi-mi:“MI:0915”(physical association)	0.780
THAP1	MMTAG2	psi-mi:“MI:0915”(physical association)	0.780
MMTAG2	FXR2	psi-mi:“MI:0915”(physical association)	0.720
FXR2	MMTAG2	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CEP70	MMTAG2	psi-mi:“MI:0915”(physical association)	0.700
GOLGA2	MMTAG2	psi-mi:“MI:0915”(physical association)	0.670
MMTAG2	GOLGA2	psi-mi:“MI:0915”(physical association)	0.670
MMTAG2	SDCBP2	psi-mi:“MI:0915”(physical association)	0.670
CSNK2A1	MMTAG2	psi-mi:“MI:0915”(physical association)	0.670
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
DACH1	MMTAG2	psi-mi:“MI:0915”(physical association)	0.560
MMTAG2	DACH1	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	MMTAG2	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	MMTAG2	psi-mi:“MI:0915”(physical association)	0.560
MMTAG2	ZRANB1	psi-mi:“MI:0915”(physical association)	0.560
CT45A1	MMTAG2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (357): C1orf35 (Two-hybrid), C1orf35 (Two-hybrid), C1orf35 (Two-hybrid), C1orf35 (Two-hybrid), C1orf35 (Affinity Capture-MS), C1orf35 (Affinity Capture-MS), C1orf35 (Two-hybrid), C1orf35 (Two-hybrid), C1orf35 (Affinity Capture-MS), C1orf35 (Affinity Capture-MS), C1orf35 (Reconstituted Complex), C1orf35 (Proximity Label-MS), C1orf35 (Proximity Label-MS), C1orf35 (Two-hybrid), C1orf35 (Two-hybrid)

ESM2 similar proteins: A0A089QKZ7, A1WW03, A4R1G4, A6QR31, A6RKG5, A7E4K0, A8HV31, A9GN39, B1LSP9, B1W0D5, B2RYG1, B6HGB5, B6K8A0, B8NDQ2, C4Z073, C9S8J9, G2TRK9, P11573, P46532, P52154, P52157, P55613, P64952, P66029, P79058, P9WHF2, P9WHF3, P9WLI4, P9WLI5, Q05190, Q08000, Q0V389, Q28C44, Q2U9C3, Q3LSS0, Q50229, Q58DU0, Q5M9I6, Q5R9E5, Q640E9

Diamond homologs: O14256, Q58DU0, Q5M9I6, Q99LX5, Q9BU76

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 148 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA 3’-end processing	6	13.7×	9e-04
Nonsense-Mediated Decay (NMD)	5	13.6×	3e-03
RNA Polymerase II Transcription Termination	5	12.8×	3e-03
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	8	9.1×	9e-04
mRNA Splicing	7	8.9×	1e-03
Transport of Mature mRNA derived from an Intron-Containing Transcript	5	8.8×	8e-03
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	6	8.2×	4e-03
Formation of a pool of free 40S subunits	6	7.8×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitotic spindle assembly	6	15.9×	1e-03
negative regulation of translation	7	10.6×	1e-03
translation	9	7.1×	1e-03
RNA splicing	10	6.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

872 predictions. Top by Δscore:

Variant	Effect	Δscore
1:228101333:GCATA:G	donor_loss	1.0000
1:228101334:CATA:C	donor_loss	1.0000
1:228101335:ATAC:A	donor_loss	1.0000
1:228101336:TACCT:T	donor_loss	1.0000
1:228101337:ACC:A	donor_loss	1.0000
1:228101338:C:A	donor_loss	1.0000
1:228101338:CCT:C	donor_gain	1.0000
1:228101372:G:C	donor_gain	1.0000
1:228101469:CACAA:C	acceptor_gain	1.0000
1:228101470:ACAA:A	acceptor_gain	1.0000
1:228101471:CAA:C	acceptor_gain	1.0000
1:228101471:CAAC:C	acceptor_gain	1.0000
1:228101472:AA:A	acceptor_gain	1.0000
1:228101472:AACTA:A	acceptor_loss	1.0000
1:228101473:AC:A	acceptor_loss	1.0000
1:228101474:C:CC	acceptor_gain	1.0000
1:228101477:C:CT	acceptor_gain	1.0000
1:228101478:A:T	acceptor_gain	1.0000
1:228102075:CTCA:C	donor_loss	1.0000
1:228102077:CACCT:C	donor_loss	1.0000
1:228102078:A:AC	donor_gain	1.0000
1:228102079:C:CC	donor_gain	1.0000
1:228102079:C:G	donor_loss	1.0000
1:228102079:CCTG:C	donor_gain	1.0000
1:228102166:C:CC	acceptor_gain	1.0000
1:228102383:C:CC	acceptor_gain	1.0000
1:228102486:C:CA	donor_gain	1.0000
1:228102511:C:CA	donor_gain	1.0000
1:228102644:T:TA	donor_gain	1.0000
1:228102687:CA:C	acceptor_gain	1.0000

AlphaMissense

1727 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:228103018:C:A	W42C	1.000
1:228103018:C:G	W42C	1.000
1:228103020:A:G	W42R	1.000
1:228103020:A:T	W42R	1.000
1:228103174:C:A	W18C	1.000
1:228103174:C:G	W18C	1.000
1:228103176:A:G	W18R	1.000
1:228103176:A:T	W18R	1.000
1:228103180:G:C	F16L	1.000
1:228103180:G:T	F16L	1.000
1:228103181:A:G	F16S	1.000
1:228103182:A:G	F16L	1.000
1:228102994:C:A	W50C	0.999
1:228102994:C:G	W50C	0.999
1:228102996:A:G	W50R	0.999
1:228102996:A:T	W50R	0.999
1:228103025:C:T	G40D	0.999
1:228103049:C:A	G32V	0.999
1:228103049:C:T	G32D	0.999
1:228103134:C:G	G32R	0.999
1:228103140:A:G	Y30H	0.999
1:228103175:C:G	W18S	0.999
1:228103181:A:C	F16C	0.999
1:228102927:C:G	A73P	0.998
1:228103015:C:A	Q43H	0.998
1:228103015:C:G	Q43H	0.998
1:228103019:C:G	W42S	0.998
1:228103023:G:T	R41S	0.998
1:228103026:C:G	G40R	0.998
1:228103044:A:G	S34P	0.998

dbSNP variants (sampled 300 via entrez): RS1000025404 (1:228101697 A>C), RS1000621109 (1:228103802 T>C), RS1000703488 (1:228102474 G>A), RS1000756979 (1:228104119 T>G), RS1001147391 (1:228105203 T>G), RS1001242638 (1:228104984 G>A,C), RS1002174821 (1:228104620 C>T), RS1002959644 (1:228103739 C>G,T), RS1003318012 (1:228103436 G>A,C,T), RS1003377155 (1:228103670 C>T), RS1004501338 (1:228104192 G>A,T), RS1005025920 (1:228101798 G>A,T), RS1006153206 (1:228102900 G>A), RS1006297806 (1:228100580 C>G,T), RS1006434176 (1:228100830 C>G)

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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
urushiol	decreases expression	1
titanium dioxide	decreases expression	1
sodium arsenite	increases expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Fluorouracil	affects expression	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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