C1orf226

Summary

C1orf226 (chromosome 1 open reading frame 226, HGNC:34351) is a protein-coding gene on chromosome 1q23.3, encoding Uncharacterized protein C1orf226 (A1L170).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001085375

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34351
Approved symbol	C1orf226
Name	chromosome 1 open reading frame 226
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13137
Ensembl gene	ENSG00000239887
Ensembl biotype	protein_coding
Entrez	400793

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000426197, ENST00000458626

RefSeq mRNA: 2 — MANE Select: NM_001085375 NM_001085375, NM_001135240

CCDS: CCDS44268, CCDS53422

Canonical transcript exons

ENST00000458626 — 2 exons

Exon	Start	End
ENSE00001753301	162381728	162382218
ENSE00001846558	162383182	162386812

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 93.23.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0435 / max 10.0332, expressed in 24 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6296	0.0435	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	93.23	gold quality
secondary oocyte	CL:0000655	91.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.87	gold quality
ileal mucosa	UBERON:0000331	83.71	gold quality
ventricular zone	UBERON:0003053	83.46	gold quality
right lobe of liver	UBERON:0001114	83.36	gold quality
pancreatic ductal cell	CL:0002079	83.26	silver quality
mucosa of transverse colon	UBERON:0004991	83.04	gold quality
ganglionic eminence	UBERON:0004023	81.52	gold quality
transverse colon	UBERON:0001157	79.77	gold quality
rectum	UBERON:0001052	79.55	gold quality
body of stomach	UBERON:0001161	79.42	gold quality
lower esophagus mucosa	UBERON:0035834	78.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.36	gold quality
colon	UBERON:0001155	77.32	gold quality
large intestine	UBERON:0000059	76.96	gold quality
palpebral conjunctiva	UBERON:0001812	76.47	gold quality
adenohypophysis	UBERON:0002196	76.37	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.95	gold quality
intestine	UBERON:0000160	75.94	gold quality
stomach	UBERON:0000945	75.68	gold quality
pituitary gland	UBERON:0000007	75.50	gold quality
metanephros cortex	UBERON:0010533	75.20	gold quality
apex of heart	UBERON:0002098	74.74	gold quality
minor salivary gland	UBERON:0001830	74.39	gold quality
small intestine	UBERON:0002108	74.16	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	73.79	gold quality
liver	UBERON:0002107	73.71	gold quality
right adrenal gland	UBERON:0001233	73.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.56
E-CURD-10	no	92.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting C1orf226, 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-5193	100.00	67.26	1744
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6764-5P	99.75	67.89	2304

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	nos1apa	ENSDARG00000105071
drosophila_melanogaster	Dab	FBGN0000414
drosophila_melanogaster	numb	FBGN0002973
drosophila_melanogaster	CG8312	FBGN0037720
drosophila_melanogaster	Aplip1	FBGN0040281
drosophila_melanogaster	CG42673	FBGN0261555
caenorhabditis_elegans		WBGENE00000894
caenorhabditis_elegans		WBGENE00001116
caenorhabditis_elegans		WBGENE00002176
caenorhabditis_elegans		WBGENE00003830
caenorhabditis_elegans		WBGENE00009930

Paralogs (11): MAPK8IP2 (ENSG00000008735), NUMBL (ENSG00000105245), MAPK8IP1 (ENSG00000121653), NUMB (ENSG00000133961), GULP1 (ENSG00000144366), DAB2 (ENSG00000153071), LDLRAP1 (ENSG00000157978), DAB1 (ENSG00000173406), FAM43B (ENSG00000183114), FAM43A (ENSG00000185112), NOS1AP (ENSG00000198929)

Protein

Protein identifiers

Uncharacterized protein C1orf226 — A1L170 (reviewed: A1L170)

All UniProt accessions (1): A1L170

Isoforms (2)

UniProt ID	Names	Canonical?
A1L170-1	1	yes
A1L170-2	2

RefSeq proteins (2): NP_001078844, NP_001128712 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027851	DUF4628	Family

Pfam: PF15429

UniProt features (12 total): modified residue 4, region of interest 3, compositionally biased region 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L170-F1	56.86	0.00

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 (4): 258, 222, 223, 249

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 56 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, ZHAN_MULTIPLE_MYELOMA_LB_UP, RIGGI_EWING_SARCOMA_PROGENITOR_UP, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_4, DLX2_TARGET_GENES, FOXG1_TARGET_GENES, H1_6_TARGET_GENES, HES2_TARGET_GENES, HOXA10_TARGET_GENES, HOXB6_TARGET_GENES, ID1_TARGET_GENES, LHX9_TARGET_GENES, MSX1_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf226	H3BUI4	H3BUI4	592
C1orf226	CLBA1	Q96F83	506
C1orf226	MTRNR2L10	P0CJ77	476
C1orf226	TEN1	Q86WV5	475
C1orf226	IGSF23	A1L1A6	473
C1orf226	FYB2	Q5VWT5	447
C1orf226	ARMC12	Q5T9G4	428
C1orf226	G5EA03	G5EA03	422
C1orf226	TMEM44	Q2T9K0	417
C1orf226	VWA8	A3KMH1	413
C1orf226	ADTRP	Q96IZ2	407
C1orf226	DHRS1	Q96LJ7	370
C1orf226	NSRP1	Q9H0G5	366
C1orf226	TCEAL9	Q9UHQ7	360
C1orf226	YPEL2	Q96QA6	356

IntAct

36 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PLK1	C1orf226	psi-mi:“MI:0914”(association)	0.560
C1orf226	PLK1	psi-mi:“MI:0915”(physical association)	0.560
C1orf226	FYN	psi-mi:“MI:0915”(physical association)	0.400
MAD2L1BP	C1orf226	psi-mi:“MI:0915”(physical association)	0.400
Dtl	C1orf226	psi-mi:“MI:0914”(association)	0.350
PLK2	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
ZCCHC10	C1orf226	psi-mi:“MI:0914”(association)	0.350
RNPS1	C1orf226	psi-mi:“MI:0914”(association)	0.350
AP2M1	C1orf226	psi-mi:“MI:0914”(association)	0.350
ENTHD1	C1orf226	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
RP9	C1orf226	psi-mi:“MI:0914”(association)	0.350
SCRIB	C1orf226	psi-mi:“MI:0914”(association)	0.350
FAM133A	C1orf226	psi-mi:“MI:0914”(association)	0.350
NOS1	C1orf226	psi-mi:“MI:0914”(association)	0.350
NKAP	C1orf226	psi-mi:“MI:0914”(association)	0.350
CHTOP	C1orf226	psi-mi:“MI:0914”(association)	0.350
EAF1	C1orf226	psi-mi:“MI:0914”(association)	0.350
NUBP2	C1orf226	psi-mi:“MI:0914”(association)	0.350
PTPRH	C1orf226	psi-mi:“MI:2364”(proximity)	0.270
PTPRJ	C1orf226	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (70): C1orf226 (Affinity Capture-MS), C1orf226 (Proximity Label-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Proximity Label-MS), C1orf226 (Proximity Label-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Affinity Capture-MS), C1orf226 (Proximity Label-MS), C1orf226 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2

Diamond homologs: A1L170, A4IFJ0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 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.

GO biological processes:

GO term	Partners	Fold	FDR
axon guidance	5	18.1×	2e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	5	15.7×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

363 predictions. Top by Δscore:

Variant	Effect	Δscore
1:162381889:A:AG	acceptor_gain	1.0000
1:162381890:G:GG	acceptor_gain	1.0000
1:162381890:GTT:G	acceptor_gain	1.0000
1:162383172:A:AG	acceptor_gain	1.0000
1:162383173:A:G	acceptor_gain	1.0000
1:162383181:GGTCA:G	acceptor_gain	1.0000
1:162379031:GGTAA:G	donor_loss	0.9900
1:162379033:T:A	donor_loss	0.9900
1:162381885:TCATA:T	acceptor_loss	0.9900
1:162381886:CATA:C	acceptor_loss	0.9900
1:162381887:ATAG:A	acceptor_loss	0.9900
1:162381888:TAG:T	acceptor_loss	0.9900
1:162381889:A:T	acceptor_loss	0.9900
1:162381889:AGTT:A	acceptor_gain	0.9900
1:162381890:G:GC	acceptor_loss	0.9900
1:162381890:GTTG:G	acceptor_gain	0.9900
1:162381890:GTTGA:G	acceptor_gain	0.9900
1:162382215:AAAGG:A	donor_loss	0.9900
1:162382216:AAGGT:A	donor_loss	0.9900
1:162382217:AGG:A	donor_loss	0.9900
1:162382220:T:A	donor_loss	0.9900
1:162383057:G:GT	donor_gain	0.9900
1:162383174:C:G	acceptor_gain	0.9900
1:162383178:A:AG	acceptor_gain	0.9900
1:162383179:CAGG:C	acceptor_loss	0.9900
1:162383180:A:AG	acceptor_gain	0.9900
1:162383180:AG:A	acceptor_gain	0.9900
1:162383180:AGG:A	acceptor_loss	0.9900
1:162383181:G:GT	acceptor_gain	0.9900
1:162383181:GG:G	acceptor_gain	0.9900

AlphaMissense

1756 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:162383675:T:C	F271L	0.990
1:162383677:T:A	F271L	0.990
1:162383677:T:G	F271L	0.990
1:162383280:T:C	I139T	0.989
1:162381905:T:C	F2L	0.986
1:162381907:T:A	F2L	0.986
1:162381907:T:G	F2L	0.986
1:162383260:G:C	K132N	0.985
1:162383260:G:T	K132N	0.985
1:162383275:G:A	M137I	0.984
1:162383275:G:C	M137I	0.984
1:162383275:G:T	M137I	0.984
1:162383274:T:C	M137T	0.982
1:162383280:T:A	I139N	0.979
1:162383667:T:C	L268P	0.978
1:162383280:T:G	I139S	0.977
1:162383676:T:C	F271S	0.976
1:162383274:T:G	M137R	0.974
1:162383256:T:A	L131Q	0.971
1:162383271:A:T	D136V	0.970
1:162383239:G:C	K125N	0.969
1:162383239:G:T	K125N	0.969
1:162383258:A:G	K132E	0.968
1:162383277:T:C	L138P	0.968
1:162383676:T:G	F271C	0.964
1:162382092:A:T	D64V	0.963
1:162382105:A:C	R68S	0.962
1:162382105:A:T	R68S	0.962
1:162383670:T:C	L269P	0.961
1:162383256:T:C	L131P	0.959

dbSNP variants (sampled 300 via entrez): RS1000006801 (1:162379911 A>G), RS1000526612 (1:162380147 C>A), RS1001466080 (1:162384379 C>G), RS1001809097 (1:162378829 A>G), RS1002047169 (1:162380014 C>T), RS1002067472 (1:162377427 T>C), RS1002133993 (1:162378537 A>G), RS1003702031 (1:162381857 T>A), RS1003920722 (1:162380535 T>A,C), RS1004448374 (1:162387007 G>A), RS1004504773 (1:162386594 T>A), RS1004696596 (1:162382898 G>C), RS1004786820 (1:162385430 C>T), RS1005372307 (1:162385943 C>A,T), RS1005640702 (1:162379161 T>C)

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

2 associations (top):

Study	Trait	p-value
GCST010538_3	Sum of carotid plaque area	5.000000e-06
GCST010539_2	Sum of stenosis	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006501	carotid plaque build

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Estradiol	affects cotreatment, decreases expression, increases expression	3
Valproic Acid	affects expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Aflatoxin B1	increases methylation, affects expression	2
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
afimoxifene	increases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
ferrous chloride	decreases expression	1
coumarin	increases phosphorylation	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	affects cotreatment, decreases expression	1
Caffeine	increases phosphorylation	1
DEET	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estrogens	decreases reaction, increases expression	1
Folic Acid	decreases expression	1
Quercetin	decreases phosphorylation	1
Tetrachlorodibenzodioxin	decreases expression	1

Clinical trials (associated diseases)

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