OLIG1

Summary

OLIG1 (oligodendrocyte transcription factor 1, HGNC:16983) is a protein-coding gene on chromosome 21q22.11, encoding Oligodendrocyte transcription factor 1 (Q8TAK6). Promotes formation and maturation of oligodendrocytes, especially within the brain.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and E-box binding activity. Predicted to be involved in axon development; positive regulation of transcription by RNA polymerase II; and sensory organ development. Predicted to act upstream of or within neuron fate commitment. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 116448 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_138983

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16983
Approved symbol	OLIG1
Name	oligodendrocyte transcription factor 1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	BHLHB6, bHLHe21
Ensembl gene	ENSG00000184221
Ensembl biotype	protein_coding
OMIM	606385
Entrez	116448

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000382348, ENST00000426947, ENST00000498799

RefSeq mRNA: 1 — MANE Select: NM_138983 NM_138983

CCDS: CCDS42920

Canonical transcript exons

ENST00000382348 — 1 exons

Exon	Start	End
ENSE00001491811	33070141	33072413

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 99.50.

FANTOM5 (CAGE): breadth broad, TPM avg 24.8424 / max 2116.6920, expressed in 315 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188834	20.4778	291
188835	3.7096	216
188836	0.5586	118
188833	0.0964	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	99.50	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.14	gold quality
spinal cord	UBERON:0002240	99.13	gold quality
subthalamic nucleus	UBERON:0001906	99.12	gold quality
lateral globus pallidus	UBERON:0002476	99.12	gold quality
ventral tegmental area	UBERON:0002691	99.04	gold quality
substantia nigra	UBERON:0002038	99.01	gold quality
midbrain	UBERON:0001891	99.00	gold quality
medulla oblongata	UBERON:0001896	99.00	gold quality
amygdala	UBERON:0001876	98.95	gold quality
superior vestibular nucleus	UBERON:0007227	98.91	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.88	gold quality
putamen	UBERON:0001874	98.74	gold quality
hypothalamus	UBERON:0001898	98.73	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.73	gold quality
Ammon’s horn	UBERON:0001954	98.50	gold quality
caudate nucleus	UBERON:0001873	98.09	gold quality
substantia nigra pars compacta	UBERON:0001965	98.06	gold quality
nucleus accumbens	UBERON:0001882	98.00	gold quality
endothelial cell	CL:0000115	97.98	gold quality
temporal lobe	UBERON:0001871	97.94	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.82	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.67	gold quality
parietal lobe	UBERON:0001872	97.47	gold quality
postcentral gyrus	UBERON:0002581	97.43	gold quality
anterior cingulate cortex	UBERON:0009835	97.42	gold quality
pons	UBERON:0000988	97.39	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.03	gold quality
right frontal lobe	UBERON:0002810	96.97	gold quality
occipital lobe	UBERON:0002021	96.96	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8894	yes	1937.55
E-GEOD-84465	yes	1522.82
E-GEOD-93593	yes	228.42
E-HCAD-35	yes	49.38
E-HCAD-25	yes	19.69
E-ANND-3	no	1.06

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

9 targets.

Target	Regulation
FGF2
GFAP	Repression
MBP	Activation
OLIG1
OLIG2
PLP1	Unknown
SERPINE1	Activation
SHH
SMAD7	Activation

JASPAR motifs

Motif	Name	Family
MA0826.1	OLIG1	Tal-related

JASPAR matrix evidence (PMIDs): PMID:20959288

Upstream regulators (CollecTRI, top): OLIG1, OLIG2

miRNA regulators (miRDB)

32 targeting OLIG1, 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-2110	99.96	66.68	1930
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-624-3P	98.37	67.06	1067
HSA-MIR-499B-5P	98.35	68.39	988
HSA-MIR-450A-2-3P	97.91	67.56	1459
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-409-5P	97.31	68.07	364
HSA-MIR-6131	97.22	66.72	960
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-4515	95.70	65.73	716
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-3178	89.40	60.05	100
HSA-MIR-572	85.62	59.34	30

Literature-anchored findings (GeneRIF, showing 11)

• Olig1 and Olig2 transcription factors in the human central nervous system are important not only for differentiation of the oligodendrocyte lineage, but they may also have a role in neural cell specification. (PMID:16267213)
• identified novel coding variants in the Olig1 gene, including a trinucleotide repeat, but found no evidence to support the hypothesis that genetic variation in Olig1 influences susceptibility to multiple sclerosis (PMID:16820418)
• Mutations in OLIG1 and OLIG2 are not likely to be associated with this subgroup of hypomyelinating disorders. (PMID:17171653)
• OLIG1 protein expression significantly correlates with overall survival in non-small cell lung cancer patients (PMID:17388669)
• No significan correlation was found between proliferation index in pilocytic astrocytomas and Olig-1 expression. (PMID:17690840)
• analysis of conserved and non-conserved functional elements at the Olig1 and Olig2 locus (PMID:21206754)
• Olig1 was not expressed in freshly isolated oligodendrocytes, but is expressed from the beginning of process extension until membrane maintenance. (PMID:21446039)
• This study review OLIG1 have developmental functions in patterning, neuron subtype specification and the formation of oligodendrocytes and play the role in the postnatal brain during repair processes and in neurological disease states. (PMID:23165259)
• Olig1 is a Smad cofactor involved in TGF-beta-induced cell motility (PMID:23720758)
• This study demonstrated that increased expression of mRNA of OLIG1 in ventral prefrontal white matter in major depressive disorder. (PMID:25930075)
• Olig1 has a critical function in regulation of postnatal neural progenitor cell production in response to Noggin. (PMID:28253550)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	olig1	ENSDARG00000040948
mus_musculus	Olig1	ENSMUSG00000046160
rattus_norvegicus	Olig1	ENSRNOG00000028648
drosophila_melanogaster	amos	FBGN0003270
drosophila_melanogaster	ato	FBGN0010433
drosophila_melanogaster	tap	FBGN0015550
caenorhabditis_elegans		WBGENE00003018
caenorhabditis_elegans		WBGENE00003595

Paralogs (15): NEUROG3 (ENSG00000122859), NEUROD4 (ENSG00000123307), BHLHE23 (ENSG00000125533), NEUROD1 (ENSG00000162992), NEUROD6 (ENSG00000164600), ATOH8 (ENSG00000168874), NEUROD2 (ENSG00000171532), ATOH1 (ENSG00000172238), OLIG3 (ENSG00000177468), NEUROG2 (ENSG00000178403), ATOH7 (ENSG00000179774), BHLHA15 (ENSG00000180535), BHLHE22 (ENSG00000180828), NEUROG1 (ENSG00000181965), OLIG2 (ENSG00000205927)

Protein

Protein identifiers

Oligodendrocyte transcription factor 1 — Q8TAK6 (reviewed: Q8TAK6)

Alternative names: Class B basic helix-loop-helix protein 6, Class E basic helix-loop-helix protein 21

All UniProt accessions (2): Q8TAK6, H7C404

UniProt curated annotations — full annotation on UniProt →

Function. Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube.

Subcellular location. Nucleus.

Tissue specificity. Expressed in the brain, in oligodendrocytes. Strongly expressed in oligodendrogliomas, while expression is weak to moderate in astrocytomas. Expression in glioblastomas is highly variable.

RefSeq proteins (1): NP_620450* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR032657	Olig1_bHLH	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR050359	bHLH_transcription_factors	Family

Pfam: PF00010

UniProt features (4 total): chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAK6-F1	61.00	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, RNGTGGGC_UNKNOWN, GOBP_GLIAL_CELL_DEVELOPMENT, GOBP_NEUROGENESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_OLIGODENDROCYTE_DEVELOPMENT, GOBP_NEURON_FATE_COMMITMENT, GOBP_GLIAL_CELL_DIFFERENTIATION, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, chr21q22, GOBP_OLIGODENDROCYTE_DIFFERENTIATION

GO Biological Process (5): sensory organ development (GO:0007423), oligodendrocyte development (GO:0014003), positive regulation of transcription by RNA polymerase II (GO:0045944), neuron fate commitment (GO:0048663), axon development (GO:0061564)

GO Molecular Function (6): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein dimerization activity (GO:0046983), E-box binding (GO:0070888), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	2
animal organ development	1
glial cell development	1
oligodendrocyte differentiation	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
neuron differentiation	1
cell fate commitment	1
neuron projection development	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
protein binding	1
RNA polymerase II cis-regulatory region sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OLIG1	ID4	P47928	944
OLIG1	ID2	Q02363	868
OLIG1	SOX10	P56693	859
OLIG1	CSPG4	Q6UVK1	820
OLIG1	NKX2-2	O95096	790
OLIG1	PLP1	P04400	789
OLIG1	ASCL1	P50553	764
OLIG1	MBP	P02686	735
OLIG1	CNP	P09543	733
OLIG1	GFAP	P14136	727
OLIG1	MOG	Q16653	724
OLIG1	PDGFRA	P16234	718
OLIG1	MYRF	Q9Y2G1	693
OLIG1	CNTF	P26441	674
OLIG1	NES	P48681	659

IntAct

40 interactions, top by confidence:

A	B	Type	Score
OLIG1	YES1	psi-mi:“MI:0915”(physical association)	0.570
OLIG1	GRB7	psi-mi:“MI:0915”(physical association)	0.570
YES1	OLIG1	psi-mi:“MI:0915”(physical association)	0.570
GRB7	OLIG1	psi-mi:“MI:0915”(physical association)	0.570
OLIG1	SH2D1B	psi-mi:“MI:0915”(physical association)	0.510
OLIG1	HCK	psi-mi:“MI:0915”(physical association)	0.510
PIK3R3	OLIG1	psi-mi:“MI:0915”(physical association)	0.510
SH2D1B	OLIG1	psi-mi:“MI:0915”(physical association)	0.510
HCK	OLIG1	psi-mi:“MI:0915”(physical association)	0.510
NCK1	OLIG1	psi-mi:“MI:0915”(physical association)	0.490
RASA1	OLIG1	psi-mi:“MI:0915”(physical association)	0.490
STAT5A	OLIG1	psi-mi:“MI:0915”(physical association)	0.490
PTPN6	OLIG1	psi-mi:“MI:0915”(physical association)	0.490
NUMB	OLIG1	psi-mi:“MI:0915”(physical association)	0.490
OLIG1	NCK1	psi-mi:“MI:0915”(physical association)	0.490
OLIG1	NUMB	psi-mi:“MI:0915”(physical association)	0.490
OLIG1	STAT5A	psi-mi:“MI:0915”(physical association)	0.490
OLIG1	PTPN6	psi-mi:“MI:0915”(physical association)	0.490
OLIG1	ACAD8	psi-mi:“MI:0915”(physical association)	0.400
CCNDBP1	OLIG1	psi-mi:“MI:0915”(physical association)	0.400
SMAD2	OLIG1	psi-mi:“MI:0915”(physical association)	0.400
OLIG1	SH2D4A	psi-mi:“MI:0915”(physical association)	0.370
SH2D1A	OLIG1	psi-mi:“MI:0915”(physical association)	0.370
OLIG1	GRB2	psi-mi:“MI:0915”(physical association)	0.370
DOK4	OLIG1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (34): OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid), OLIG1 (Two-hybrid)

ESM2 similar proteins: A1YEV8, A1YG25, A2T711, A6NJT0, A8MTQ0, O14813, O15370, O15499, O15522, O35602, O70218, O70220, O73592, P43687, P56916, P70061, P78367, P82976, P97503, Q04890, Q05917, Q06348, Q13461, Q15270, Q2EGB9, Q62066, Q62782, Q63250, Q6RFH8, Q6XYB7, Q7RTU5, Q7YRX0, Q8TAK6, Q91V10, Q96IS3, Q99811, Q9BZE3, Q9C009, Q9DE09, Q9GMA3

Diamond homologs: B6VQA1, O09029, O09105, O13125, O13126, O16867, O42202, O42606, O45489, O57598, P46581, P48985, P48986, P70447, P70562, P70595, P70660, P70661, P79765, P79766, P79920, Q08DI0, Q0V9X5, Q10574, Q13516, Q13562, Q15784, Q4R5G6, Q5IS79, Q60430, Q60867, Q62414, Q63689, Q64289, Q6NYU3, Q6PFG8, Q71T09, Q7RTS1, Q7RTU3, Q8BGW3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
OLIG1	up-regulates	OLIG2

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 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
Downstream signal transduction	5	86.5×	7e-07
RET signaling	5	59.0×	2e-06
Signaling by SCF-KIT	5	56.4×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

326 predictions. Top by Δscore:

Variant	Effect	Δscore
21:33071192:G:GT	donor_gain	0.9800
21:33071059:G:GG	donor_gain	0.9600
21:33071164:A:T	donor_gain	0.9600
21:33070994:TGC:T	donor_gain	0.9400
21:33070992:TGTGC:T	donor_gain	0.9100
21:33071197:G:T	donor_gain	0.9000
21:33072047:C:G	acceptor_gain	0.9000
21:33072051:GGA:G	acceptor_gain	0.9000
21:33070996:C:T	donor_gain	0.8900
21:33071193:A:T	donor_gain	0.8900
21:33071484:G:GG	donor_gain	0.8800
21:33071163:G:GT	donor_gain	0.8600
21:33071483:A:AG	donor_gain	0.8600
21:33071631:T:G	donor_gain	0.8600
21:33071684:AGGT:A	donor_gain	0.8200
21:33071666:G:GT	donor_gain	0.7800
21:33071691:C:A	donor_gain	0.7800
21:33071554:C:CT	acceptor_gain	0.7600
21:33071491:GGGC:G	donor_gain	0.7500
21:33071595:G:GT	donor_gain	0.7400
21:33070995:GCA:G	donor_gain	0.7000
21:33071058:A:AG	donor_gain	0.7000
21:33071653:G:T	donor_gain	0.6900
21:33071653:G:GT	donor_gain	0.6800
21:33071681:GACAG:G	donor_loss	0.6800
21:33071682:ACAGG:A	donor_loss	0.6800
21:33071684:AGGTG:A	donor_loss	0.6800
21:33071686:GT:G	donor_loss	0.6800
21:33072047:CGCAG:C	acceptor_loss	0.6800
21:33072048:GCA:G	acceptor_loss	0.6800

AlphaMissense

1672 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:33070575:T:C	I110T	1.000
21:33070577:A:G	N111D	1.000
21:33070579:C:A	N111K	1.000
21:33070579:C:G	N111K	1.000
21:33070583:C:A	R113S	1.000
21:33070586:G:A	E114K	1.000
21:33070587:A:C	E114A	1.000
21:33070587:A:T	E114V	1.000
21:33070588:G:C	E114D	1.000
21:33070588:G:T	E114D	1.000
21:33070595:C:A	R117S	1.000
21:33070599:T:A	M118K	1.000
21:33070599:T:C	M118T	1.000
21:33070599:T:G	M118R	1.000
21:33070600:G:A	M118I	1.000
21:33070600:G:C	M118I	1.000
21:33070600:G:T	M118I	1.000
21:33070608:T:A	L121Q	1.000
21:33070608:T:C	L121P	1.000
21:33070610:A:G	N122D	1.000
21:33070612:C:A	N122K	1.000
21:33070612:C:G	N122K	1.000
21:33070617:C:A	A124D	1.000
21:33070621:G:A	M125I	1.000
21:33070621:G:C	M125I	1.000
21:33070621:G:T	M125I	1.000
21:33070625:G:C	A127P	1.000
21:33070629:T:A	L128Q	1.000
21:33070629:T:C	L128P	1.000
21:33070692:C:A	S149Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000109904 (21:33070058 C>T), RS1000142336 (21:33069790 G>T), RS1000225219 (21:33069599 C>T), RS1004796618 (21:33070310 C>A,T), RS1006121321 (21:33072729 A>T), RS1007285726 (21:33072173 C>G,T), RS1007729062 (21:33071939 C>G), RS1008424529 (21:33071386 T>C,G), RS1008881549 (21:33070434 C>T), RS1008987906 (21:33069847 G>A), RS1009272387 (21:33068271 G>GTC), RS1009369859 (21:33070097 T>C,G), RS1010155348 (21:33069371 C>A,T), RS1010268329 (21:33069316 C>T), RS1010538860 (21:33069741 T>A,C)

Disease associations

OMIM: gene MIM:606385 | 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

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation	4
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
lead acetate	increases abundance, increases expression	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Lead	increases abundance, increases expression	1
Silver	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Dronabinol	increases expression	1
Tretinoin	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4Z0	SEES3-1V human OLIG1, clone1	Embryonic stem cell	Male
CVCL_A4Z1	SEES3-1V human OLIG1, clone2	Embryonic stem cell	Male
CVCL_A4Z2	SEES3-1V human OLIG1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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