C1orf122

Summary

C1orf122 (chromosome 1 open reading frame 122, HGNC:24789) is a protein-coding gene on chromosome 1p34.3, encoding Uncharacterized protein C1orf122 (Q6ZSJ8).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 64 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_198446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24789
Approved symbol	C1orf122
Name	chromosome 1 open reading frame 122
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ45459
Ensembl gene	ENSG00000197982
Ensembl biotype	protein_coding
Entrez	127687

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000373042, ENST00000373043, ENST00000419397, ENST00000468084

RefSeq mRNA: 2 — MANE Select: NM_198446 NM_001142726, NM_198446

CCDS: CCDS427, CCDS44112

Canonical transcript exons

ENST00000373042 — 3 exons

Exon	Start	End
ENSE00001459393	37807790	37808439
ENSE00003548404	37808978	37809454
ENSE00003579545	37808531	37808732

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 98.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6338 / max 162.8225, expressed in 1819 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2223	11.3615	1757
2227	9.3667	1790
2224	5.4045	1389
2228	1.0373	724
2225	0.8087	491
2222	0.6551	426

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	98.99	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	97.80	gold quality
spinal cord	UBERON:0002240	97.78	gold quality
inferior vagus X ganglion	UBERON:0005363	97.68	gold quality
substantia nigra	UBERON:0002038	97.13	gold quality
midbrain	UBERON:0001891	97.10	gold quality
amygdala	UBERON:0001876	97.06	gold quality
pons	UBERON:0000988	97.00	gold quality
ventral tegmental area	UBERON:0002691	96.97	gold quality
medulla oblongata	UBERON:0001896	96.95	gold quality
superior vestibular nucleus	UBERON:0007227	96.91	gold quality
hypothalamus	UBERON:0001898	96.53	gold quality
subthalamic nucleus	UBERON:0001906	96.44	gold quality
putamen	UBERON:0001874	96.32	gold quality
adenohypophysis	UBERON:0002196	96.19	gold quality
anterior cingulate cortex	UBERON:0009835	95.95	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.94	gold quality
pituitary gland	UBERON:0000007	95.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.68	gold quality
nucleus accumbens	UBERON:0001882	95.56	gold quality
tibialis anterior	UBERON:0001385	95.54	gold quality
caudate nucleus	UBERON:0001873	95.27	gold quality
endothelial cell	CL:0000115	95.25	gold quality
right frontal lobe	UBERON:0002810	95.21	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.18	gold quality
lateral globus pallidus	UBERON:0002476	95.11	gold quality
prefrontal cortex	UBERON:0000451	94.98	gold quality
Ammon’s horn	UBERON:0001954	94.92	gold quality
apex of heart	UBERON:0002098	94.92	gold quality
forebrain	UBERON:0001890	94.56	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	31.51
E-ANND-3	yes	13.56
E-HCAD-13	no	3.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting C1orf122, 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-6825-5P	99.96	69.81	3431
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-647	97.73	67.79	927
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-6861-5P	96.23	67.19	800
HSA-MIR-3943	95.87	64.57	523
HSA-MIR-6796-5P	95.37	66.08	1120

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1110065P20Rik	ENSMUSG00000078570
rattus_norvegicus		ENSRNOG00000084397

Protein

Protein identifiers

Uncharacterized protein C1orf122 — Q6ZSJ8 (reviewed: Q6ZSJ8)

Alternative names: Protein ALAESM

All UniProt accessions (1): Q6ZSJ8

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZSJ8-1	1	yes
Q6ZSJ8-2	2

RefSeq proteins (2): NP_001136198, NP_940848* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031714	DUF4726	Family

Pfam: PF15855

UniProt features (5 total): region of interest 2, chain 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZSJ8-F1	69.27	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 129 (showing top): HNF3ALPHA_Q6, NKX25_02, LHX3_01, CEBP_Q2, NKX62_Q2, CATTTCA_MIR203, BRN2_01, IRF1_Q6, WTGAAAT_UNKNOWN, chr1p34, OCT1_06, AACTTT_UNKNOWN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, HAND1E47_01, DBP_Q6

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

266 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf122	PEX39	Q5I0X4	507
C1orf122	POGK	Q9P215	477
C1orf122	A0A0U1RQV1	A0A0U1RQV1	447
C1orf122	TIGD5	Q53EQ6	443
C1orf122	B8ZZ87	B8ZZ87	417
C1orf122	GTF3C5	Q9Y5Q8	401
C1orf122	MANEAL	Q5VSG8	394
C1orf122	NIPSNAP3A	Q9UFN0	392
C1orf122	MIPEP	Q99797	375
C1orf122	SLX9	Q9NSI2	370
C1orf122	FIRRM	Q9NSG2	367
C1orf122	ZNF358	Q9NW07	367
C1orf122	SLC33A2	Q96ES6	350
C1orf122	SCAND1	P57086	321
C1orf122	ERI3	O43414	311

IntAct

26 interactions, top by confidence:

A	B	Type	Score
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
TXLNB	LAMC1	psi-mi:“MI:0914”(association)	0.530
RBBP7	SMARCA5	psi-mi:“MI:0914”(association)	0.530
POLR2J	MED14	psi-mi:“MI:0914”(association)	0.530
SGF29	MATN2	psi-mi:“MI:0914”(association)	0.530
SNX2	C1orf122	psi-mi:“MI:0915”(physical association)	0.370
k8	RGL2	psi-mi:“MI:0914”(association)	0.350
TRAF2	UMAD1	psi-mi:“MI:0914”(association)	0.350
MRPL12		psi-mi:“MI:0914”(association)	0.350
SGF29	DTNB	psi-mi:“MI:0914”(association)	0.350
SNAP29	RNF40	psi-mi:“MI:0914”(association)	0.350
TXLNA	GFOD2	psi-mi:“MI:0914”(association)	0.350
LURAP1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
SGF29	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
RABEP2	HECTD4	psi-mi:“MI:0914”(association)	0.350
TXLNA	CENPF	psi-mi:“MI:0914”(association)	0.350
TXLNB	DHX16	psi-mi:“MI:0914”(association)	0.350
TXLNA	PDCD2	psi-mi:“MI:0914”(association)	0.350
MRPL12	GTPBP10	psi-mi:“MI:0914”(association)	0.350
RABGEF1	PJA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Two-hybrid), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS), C1orf122 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

Diamond homologs: B1ARW8, Q6ZSJ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	37
Likely benign	19
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1321212	NM_024640.4(YRDC):c.251C>T (p.Ala84Val)	Pathogenic
4537432	NM_024640.4(YRDC):c.356C>T (p.Ala119Val)	Likely pathogenic

SpliceAI

416 predictions. Top by Δscore:

Variant	Effect	Δscore
1:37807094:GACTC:G	donor_loss	1.0000
1:37807095:ACTCA:A	donor_loss	1.0000
1:37807096:CTCAC:C	donor_loss	1.0000
1:37807097:TCA:T	donor_loss	1.0000
1:37807098:CA:C	donor_loss	1.0000
1:37807099:A:AC	donor_gain	1.0000
1:37807099:ACAGG:A	donor_gain	1.0000
1:37807100:C:CT	donor_gain	1.0000
1:37807100:CA:C	donor_gain	1.0000
1:37807100:CAG:C	donor_gain	1.0000
1:37807100:CAGG:C	donor_gain	1.0000
1:37807100:CAGGC:C	donor_gain	1.0000
1:37807117:AGGT:A	donor_gain	1.0000
1:37807120:T:TA	donor_gain	1.0000
1:37807211:AGTAT:A	acceptor_gain	1.0000
1:37807212:GTAT:G	acceptor_gain	1.0000
1:37807213:TAT:T	acceptor_gain	1.0000
1:37807214:AT:A	acceptor_gain	1.0000
1:37807215:TCTG:T	acceptor_loss	1.0000
1:37807216:C:CC	acceptor_gain	1.0000
1:37807216:C:T	acceptor_loss	1.0000
1:37807217:T:C	acceptor_loss	1.0000
1:37807224:C:CT	acceptor_gain	1.0000
1:37807226:C:CT	acceptor_gain	1.0000
1:37807788:TTA:T	donor_loss	1.0000
1:37807790:A:AC	donor_gain	1.0000
1:37807791:C:CC	donor_gain	1.0000
1:37808204:G:GT	donor_gain	1.0000
1:37808300:G:GT	donor_gain	1.0000
1:37808302:GACCG:G	donor_gain	1.0000

AlphaMissense

678 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:37808656:T:C	L54P	0.997
1:37808668:T:A	I58N	0.997
1:37808668:T:G	I58S	0.995
1:37808689:T:C	L65S	0.995
1:37808650:G:C	R52P	0.992
1:37808668:T:C	I58T	0.991
1:37808676:T:C	C61R	0.991
1:37808644:G:C	R50P	0.990
1:37808631:G:C	A46P	0.989
1:37808656:T:A	L54H	0.989
1:37808678:C:G	C61W	0.989
1:37808680:A:T	E62V	0.988
1:37808677:G:A	C61Y	0.987
1:37808623:T:C	L43P	0.986
1:37808647:A:C	Q51P	0.986
1:37808670:G:C	A59P	0.986
1:37808659:T:C	L55P	0.985
1:37808673:G:C	A60P	0.985
1:37808665:C:T	T57I	0.982
1:37808692:G:C	R66P	0.982
1:37808664:A:C	T57P	0.981
1:37808648:G:C	Q51H	0.977
1:37808648:G:T	Q51H	0.977
1:37808626:T:C	L44P	0.970
1:37808635:T:A	V47E	0.969
1:37808667:A:T	I58F	0.967
1:37808698:T:C	L68P	0.965
1:37808677:G:T	C61F	0.963
1:37808656:T:G	L54R	0.961
1:37808686:T:G	M64R	0.960

dbSNP variants (sampled 300 via entrez): RS1001173441 (1:37806473 G>A,C), RS1001204513 (1:37806668 G>A), RS1003104554 (1:37808586 C>A,T), RS1003420581 (1:37809040 A>C,G), RS1003472677 (1:37809824 G>A,C), RS1004159505 (1:37809827 C>T), RS1004492793 (1:37808265 G>C,T), RS1004523861 (1:37808414 G>A), RS1004556513 (1:37808600 C>G), RS1004643690 (1:37809278 A>G), RS1005018346 (1:37809658 G>C), RS1006227275 (1:37807789 T>C), RS1007454678 (1:37808113 C>A,G), RS1007830388 (1:37807395 C>T), RS1009470938 (1:37805900 G>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:619609

GenCC curated gene-disease

Mondo (1): Galloway-Mowat syndrome 10 (MONDO:0030476)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003476_2	Eyebrow thickness	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	decreases reaction, increases expression, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
jinfukang	increases expression	1
Acetaminophen	affects response to substance	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Benzo(a)pyrene	affects methylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Methyl Methanesulfonate	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Tunicamycin	increases expression	1
Urethane	decreases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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