C1orf105

Summary

C1orf105 (chromosome 1 open reading frame 105, HGNC:29591) is a protein-coding gene on chromosome 1q24.3, encoding Uncharacterized protein C1orf105 (O95561).

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 92 total — 4 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_139240

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29591
Approved symbol	C1orf105
Name	chromosome 1 open reading frame 105
Location	1q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180999
Ensembl biotype	protein_coding
Entrez	92346

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000367725, ENST00000367726, ENST00000367727, ENST00000460397, ENST00000488100

RefSeq mRNA: 2 — MANE Select: NM_139240 NM_001300760, NM_139240

CCDS: CCDS1301, CCDS72983

Canonical transcript exons

ENST00000367727 — 7 exons

Exon	Start	End
ENSE00001252886	172456415	172456489
ENSE00001252892	172448441	172448531
ENSE00001252929	172445073	172445158
ENSE00001445496	172420685	172420906
ENSE00001904470	172468449	172468829
ENSE00003676027	172462178	172462245
ENSE00003694713	172465299	172465363

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 93.05.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9394 / max 326.1381, expressed in 139 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6692	0.4604	103
6691	0.3642	55
6690	0.0596	21
6689	0.0395	11
6685	0.0080	3
6686	0.0077	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	93.05	gold quality
male germ cell	CL:0000015	90.87	gold quality
left testis	UBERON:0004533	88.80	gold quality
right testis	UBERON:0004534	88.06	gold quality
testis	UBERON:0000473	85.83	gold quality
heart right ventricle	UBERON:0002080	85.05	gold quality
right atrium auricular region	UBERON:0006631	85.03	gold quality
cardiac atrium	UBERON:0002081	84.21	gold quality
apex of heart	UBERON:0002098	82.72	gold quality
left ventricle myocardium	UBERON:0006566	82.48	silver quality
heart left ventricle	UBERON:0002084	81.97	gold quality
cardiac ventricle	UBERON:0002082	81.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.85	gold quality
myocardium	UBERON:0002349	79.45	silver quality
tibialis anterior	UBERON:0001385	77.04	silver quality
heart	UBERON:0000948	76.70	gold quality
adult organism	UBERON:0007023	74.28	gold quality
diaphragm	UBERON:0001103	74.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.92	gold quality
ileal mucosa	UBERON:0000331	66.99	silver quality
pancreatic ductal cell	CL:0002079	61.91	silver quality
vena cava	UBERON:0004087	61.32	gold quality
cauda epididymis	UBERON:0004360	61.29	gold quality
gastrocnemius	UBERON:0001388	60.18	gold quality
muscle of leg	UBERON:0001383	59.96	gold quality
adrenal tissue	UBERON:0018303	58.50	gold quality
deltoid	UBERON:0001476	58.47	gold quality
muscle organ	UBERON:0001630	57.82	gold quality
upper leg skin	UBERON:0004262	57.80	silver quality
oocyte	CL:0000023	57.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting C1orf105, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-30C-1-3P	97.80	66.36	1499

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930558K02Rik	ENSMUSG00000086277
rattus_norvegicus	C13h1orf105	ENSRNOG00000026523

Protein

Protein identifiers

Uncharacterized protein C1orf105 — O95561 (reviewed: O95561)

All UniProt accessions (4): E9PLC3, H0YCE4, O95561, Q5R3C7

RefSeq proteins (2): NP_001287689, NP_640333* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027845	DUF4548	Family

Pfam: PF15081

UniProt features (3 total): sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95561-F1	57.57	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 47 (showing top): SUZUKI_RESPONSE_TO_TSA, MODULE_49, NFY_Q6_01, CTIP_DN.V1_UP, DCA_UP.V1_UP, TGFB_UP.V1_DN, DLX2_TARGET_GENES, TEAD2_TARGET_GENES, TOP2B_TARGET_GENES, ZNF184_TARGET_GENES, ZNF660_TARGET_GENES, MIR605_3P, MIR30C_2_3P, MIR3192_5P, MIR30C_1_3P

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

166 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf105	GOLGA8S	H3BPF8	669
C1orf105	PIGC	Q92535	609
C1orf105	MTIF2	P46199	543
C1orf105	NAA50	Q9GZZ1	536
C1orf105	PPIAL4E	A0A075B759	515
C1orf105	HBP1	O60381	512
C1orf105	CCDC160	A6NGH7	510
C1orf105	FYB2	Q5VWT5	479
C1orf105	ANKRD10	Q9NXR5	452
C1orf105	OTOGL	Q3ZCN5	449
C1orf105	DNM3	Q9UQ16	438
C1orf105	SLC22A31	A6NKX4	437
C1orf105	KLRG2	A4D1S0	417
C1orf105	CHGB	P05060	394
C1orf105	ATP1B4	Q9UN42	370

IntAct

20 interactions, top by confidence:

A	B	Type	Score
C1orf105	PSMA3	psi-mi:“MI:0915”(physical association)	0.560
PSMA3	C1orf105	psi-mi:“MI:0915”(physical association)	0.560
C1orf105	TRIM68	psi-mi:“MI:0914”(association)	0.560
SBK3	C1orf105	psi-mi:“MI:0915”(physical association)	0.560
C1orf105	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
C1orf105	MAPK9	psi-mi:“MI:0915”(physical association)	0.560
POLR1C	C1orf105	psi-mi:“MI:0915”(physical association)	0.560
C1orf105	SBK3	psi-mi:“MI:0915”(physical association)	0.560
C1orf105	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
ENKD1	C1orf105	psi-mi:“MI:0915”(physical association)	0.000
MAPK9	C1orf105	psi-mi:“MI:0915”(physical association)	0.000
POLR1C	C1orf105	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): C1orf105 (Two-hybrid), LIMD1 (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), C1orf105 (Biochemical Activity), C1orf105 (Two-hybrid), C1orf105 (Two-hybrid), C1orf105 (Two-hybrid), SBK3 (Two-hybrid), TRIM68 (Affinity Capture-MS), C1orf105 (Positive Genetic), C1orf105 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A1B0GVB3, A0A1B0GVH6, A2RRY8, A4IGV6, A6NHR8, B3DHS1, E1B9I5, O74317, O95561, P03319, P03320, P0C9Z5, P0C9Z6, P10260, P36353, P40744, P40745, Q06616, Q09280, Q09424, Q2KIL1, Q2KIR0, Q32KT7, Q32LB6, Q3T028, Q3TTI8, Q496A3, Q5NC83, Q5SQS8, Q5XIU7, Q68FQ8, Q6DFB0, Q6ZNM6, Q6ZV65, Q811V6, Q8IWA6, Q8N9R6, Q8R0E5, Q8TAL5, Q8WTQ4

Diamond homologs: O95561, Q5XIU7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	3
Uncertain significance	63
Likely benign	12
Benign	3

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1802584	NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)	Pathogenic
4278926	NM_153747.2(PIGC):c.794_796delinsT (p.Cys265fs)	Pathogenic
4278927	NM_153747.2(PIGC):c.437_445del (p.Thr146_Thr148del)	Pathogenic
4278929	NM_153747.2(PIGC):c.77A>G (p.Asp26Gly)	Pathogenic
3242279	GRCh37/hg19 1q24.2-25.1(chr1:170777501-173113232)x1	Likely pathogenic
471151	NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)	Likely pathogenic
471154	NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)	Likely pathogenic

SpliceAI

1320 predictions. Top by Δscore:

Variant	Effect	Δscore
1:172465293:A:AG	acceptor_gain	0.9900
1:172468434:T:A	acceptor_gain	0.9900
1:172468437:A:AG	acceptor_gain	0.9900
1:172468438:C:G	acceptor_gain	0.9900
1:172468437:ACT:A	acceptor_gain	0.9800
1:172468439:T:A	acceptor_gain	0.9800
1:172468447:A:AG	acceptor_gain	0.9800
1:172468448:G:GG	acceptor_gain	0.9800
1:172468448:GAAA:G	acceptor_gain	0.9800
1:172420902:TAAAG:T	donor_loss	0.9700
1:172420903:AAAG:A	donor_loss	0.9700
1:172420904:AAG:A	donor_loss	0.9700
1:172420905:AGGTA:A	donor_loss	0.9700
1:172420906:GGTAG:G	donor_loss	0.9700
1:172420907:G:GA	donor_loss	0.9700
1:172420908:T:A	donor_loss	0.9700
1:172443983:CCTA:C	donor_loss	0.9700
1:172443984:CTA:C	donor_loss	0.9700
1:172443986:ACC:A	donor_loss	0.9700
1:172443987:CCCGA:C	donor_loss	0.9700
1:172455025:T:TA	donor_gain	0.9700
1:172455026:A:AA	donor_gain	0.9700
1:172468444:TCCAG:T	acceptor_loss	0.9700
1:172468445:CCAG:C	acceptor_loss	0.9700
1:172468447:A:T	acceptor_loss	0.9700
1:172443986:AC:A	donor_gain	0.9600
1:172443987:CC:C	donor_gain	0.9600
1:172465297:A:AG	acceptor_gain	0.9600
1:172465298:G:GG	acceptor_gain	0.9600
1:172468173:G:A	acceptor_gain	0.9600

AlphaMissense

1213 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:172445118:A:C	S23R	0.971
1:172445120:C:A	S23R	0.971
1:172445120:C:G	S23R	0.971
1:172445145:A:C	S32R	0.959
1:172445147:C:A	S32R	0.959
1:172445147:C:G	S32R	0.959
1:172468496:T:C	F152L	0.938
1:172468498:C:A	F152L	0.938
1:172468498:C:G	F152L	0.938
1:172445103:T:A	W18R	0.937
1:172445103:T:C	W18R	0.937
1:172445088:T:C	F13L	0.934
1:172445090:T:A	F13L	0.934
1:172445090:T:G	F13L	0.934
1:172445132:G:C	K27N	0.919
1:172445132:G:T	K27N	0.919
1:172468478:G:C	G146R	0.912
1:172445129:C:A	N26K	0.880
1:172445129:C:G	N26K	0.880
1:172468486:G:C	R148S	0.879
1:172468486:G:T	R148S	0.879
1:172445080:T:A	V10D	0.875
1:172445109:A:C	S20R	0.856
1:172445111:T:A	S20R	0.856
1:172445111:T:G	S20R	0.856
1:172445137:T:C	L29S	0.856
1:172468467:T:C	L142P	0.846
1:172445128:A:T	N26I	0.843
1:172468479:G:A	G146D	0.839
1:172445105:G:C	W18C	0.828

dbSNP variants (sampled 300 via entrez): RS1000025899 (1:172430239 T>C), RS1000046711 (1:172448156 C>A,T), RS1000116275 (1:172421142 A>T), RS1000182489 (1:172465141 C>A), RS1000186463 (1:172420070 A>G), RS1000187489 (1:172465580 C>T), RS1000346257 (1:172426430 G>A), RS1000347164 (1:172433796 G>T), RS1000358641 (1:172458689 C>T), RS1000390594 (1:172427312 G>C), RS1000467168 (1:172452471 G>T), RS1000559341 (1:172454487 C>A,G), RS1000626753 (1:172428479 A>C), RS1000686258 (1:172435157 C>A), RS1000696648 (1:172426858 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:617816, MIM:236750

GenCC curated gene-disease

Mondo (2): glycosylphosphatidylinositol biosynthesis defect 16 (MONDO:0040500), non-immune hydrops fetalis (MONDO:0009369)

Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST003518_51	Daytime sleep phenotypes	3.000000e-06
GCST004616_121	Platelet distribution width	1.000000e-25
GCST004621_39	Red cell distribution width	1.000000e-19
GCST004628_133	Immature fraction of reticulocytes	2.000000e-31
GCST006804_53	Red cell distribution width	7.000000e-13
GCST010926_1	Waist-to-hip ratio adjusted for BMI	2.000000e-14
GCST012229_23	Hip index	6.000000e-09
GCST012229_24	Hip index	4.000000e-09
GCST90002384_16	Hemoglobin	7.000000e-11
GCST90002387_235	Immature fraction of reticulocytes	2.000000e-46
GCST90002391_122	Mean corpuscular hemoglobin concentration	3.000000e-12
GCST90002396_152	Mean reticulocyte volume	1.000000e-107
GCST90002397_783	Mean spheric corpuscular volume	4.000000e-43
GCST90002404_437	Red cell distribution width	9.000000e-48
GCST90002405_90	Reticulocyte count	1.000000e-25
GCST90002406_112	Reticulocyte fraction of red cells	2.000000e-22
GCST90020024_626	A body shape index	5.000000e-12
GCST90020025_1231	Waist-to-hip ratio adjusted for BMI	4.000000e-20
GCST90020025_1236	Waist-to-hip ratio adjusted for BMI	3.000000e-09
GCST90020026_655	Hip index	9.000000e-16
GCST90020026_660	Hip index	6.000000e-16
GCST90020027_1919	Waist-hip index	5.000000e-21
GCST90020027_1924	Waist-hip index	7.000000e-10
GCST90020028_267	Hip circumference adjusted for BMI	5.000000e-09
GCST90020029_1106	Waist circumference adjusted for body mass index	1.000000e-08
GCST90020029_1109	Waist circumference adjusted for body mass index	3.000000e-13
GCST90020029_1110	Waist circumference adjusted for body mass index	6.000000e-12

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0007984	platelet component distribution width
EFO:0009188	Red cell distribution width
EFO:0007986	reticulocyte count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference
EFO:0004509	hemoglobin measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0010701	mean reticulocyte volume
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	decreases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Doxorubicin	decreases expression	1
Niclosamide	decreases expression	1
Triclosan	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04308603	Not specified	COMPLETED	Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT05528796	Not specified	ENROLLING_BY_INVITATION	Uncovering the Etiologies of Non-immune Hydrops Fetalis