HSBP1L1

Summary

HSBP1L1 (heat shock factor binding protein 1 like 1, HGNC:37243) is a protein-coding gene on chromosome 18q23, encoding Heat shock factor-binding protein 1-like protein 1 (C9JCN9).

Predicted to enable transcription corepressor activity. Predicted to be involved in cellular heat acclimation. Predicted to be active in cytosol and nucleus.

Source: NCBI Gene 440498 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 14 total — 1 pathogenic
• MANE Select transcript: NM_001136180

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37243
Approved symbol	HSBP1L1
Name	heat shock factor binding protein 1 like 1
Location	18q23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10967, MGC189743
Ensembl gene	ENSG00000226742
Ensembl biotype	protein_coding
Entrez	440498

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000451882, ENST00000587347, ENST00000589516, ENST00000590571, ENST00000592352, ENST00000903186, ENST00000903187

RefSeq mRNA: 1 — MANE Select: NM_001136180 NM_001136180

CCDS: CCDS45886

Canonical transcript exons

ENST00000451882 — 4 exons

Exon	Start	End
ENSE00001658638	79970440	79970822
ENSE00001708485	79968089	79968183
ENSE00001726525	79966612	79966678
ENSE00002845667	79964643	79964786

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 97.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9496 / max 329.8048, expressed in 1585 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170917	14.6355	1579
208614	0.3142	147

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.07	gold quality
mucosa of transverse colon	UBERON:0004991	96.82	gold quality
right lobe of liver	UBERON:0001114	96.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.65	gold quality
cerebellar hemisphere	UBERON:0002245	95.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.60	gold quality
cerebellar cortex	UBERON:0002129	95.57	gold quality
metanephros cortex	UBERON:0010533	95.27	gold quality
rectum	UBERON:0001052	94.99	gold quality
transverse colon	UBERON:0001157	94.78	gold quality
right adrenal gland cortex	UBERON:0035827	94.76	gold quality
right uterine tube	UBERON:0001302	94.70	gold quality
right adrenal gland	UBERON:0001233	94.69	gold quality
skin of abdomen	UBERON:0001416	94.53	gold quality
upper arm skin	UBERON:0004263	94.53	silver quality
body of pancreas	UBERON:0001150	94.45	gold quality
left adrenal gland cortex	UBERON:0035825	94.45	gold quality
cerebellum	UBERON:0002037	94.40	gold quality
left adrenal gland	UBERON:0001234	94.32	gold quality
minor salivary gland	UBERON:0001830	94.11	gold quality
esophagus mucosa	UBERON:0002469	93.80	gold quality
left lobe of thyroid gland	UBERON:0001120	93.70	gold quality
skin of leg	UBERON:0001511	93.60	gold quality
adrenal cortex	UBERON:0001235	93.47	gold quality
right lobe of thyroid gland	UBERON:0001119	93.38	gold quality
right lung	UBERON:0002167	93.05	gold quality
thyroid gland	UBERON:0002046	92.72	gold quality
mouth mucosa	UBERON:0003729	92.70	gold quality
upper lobe of left lung	UBERON:0008952	92.54	gold quality
saliva-secreting gland	UBERON:0001044	92.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	19.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting HSBP1L1, 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-3692-3P	99.98	70.27	2139
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-1293	96.16	64.69	916
HSA-MIR-5002-3P	95.75	67.04	542

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hsbp1l1	ENSDARG00000075984
mus_musculus	Hsbp1l1	ENSMUSG00000078963
rattus_norvegicus	Hsbp1l1	ENSRNOG00000059055
drosophila_melanogaster	CG5446	FBGN0032429
caenorhabditis_elegans		WBGENE00002002

Paralogs (1): HSBP1 (ENSG00000230989)

Protein

Protein identifiers

Heat shock factor-binding protein 1-like protein 1 — C9JCN9 (reviewed: C9JCN9)

All UniProt accessions (2): C9JCN9, K7ENV5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the HSBP1 family.

RefSeq proteins (1): NP_001129652* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009643	HS1-bd	Family

Pfam: PF06825

UniProt features (3 total): chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9JCN9-F1	88.38	0.68

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): GOBP_CELLULAR_RESPONSE_TO_HEAT, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_RESPONSE_TO_HEAT, GOMF_TRANSCRIPTION_COREPRESSOR_ACTIVITY, GOBP_HEAT_ACCLIMATION, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_TRANSCRIPTION_COREGULATOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, SNAI1_TARGET_GENES, SRSF9_TARGET_GENES, GSE11057_NAIVE_VS_CENT_MEMORY_CD4_TCELL_UP, GSE11864_CSF1_VS_CSF1_PAM3CYS_IN_MAC_UP, MIR4483, MIR1293, GOMF_MOLECULAR_ADAPTOR_ACTIVITY

GO Biological Process (2): cellular heat acclimation (GO:0070370), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (2): transcription corepressor activity (GO:0003714), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
heat acclimation	1
cellular response to heat	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSBP1L1	HSPA4	P34932	656
HSBP1L1	SLC66A2	Q8N2U9	490
HSBP1L1	TXNL4A	P83876	482
HSBP1L1	IREB2	P48200	467
HSBP1L1	RBFA	Q8N0V3	458
HSBP1L1	STOML2	Q9UJZ1	449
HSBP1L1	SMS	P52788	440
HSBP1L1	FAM227A	F5H4B4	438
HSBP1L1	ARPP19	P56211	434
HSBP1L1	CARS2	Q9HA77	427
HSBP1L1	CARS1	P49589	427
HSBP1L1	LPCAT3	Q6P1A2	419
HSBP1L1	WASHC3	Q9Y3C0	414
HSBP1L1	LAMTOR1	Q6IAA8	410
HSBP1L1	GAPT	Q8N292	398

IntAct

32 interactions, top by confidence:

A	B	Type	Score
HSBP1L1	NFKBID	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	ALAS1	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	PLP2	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	FKBP7	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	SYNGR3	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	TNFRSF10D	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	MESD	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	CMTM4	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	PBX4	psi-mi:“MI:0915”(physical association)	0.560
HSBP1L1	AGTRAP	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	ALAS1	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	PLP2	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	FKBP7	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	SYNGR3	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	TNFRSF10D	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	MESD	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	CMTM4	psi-mi:“MI:0915”(physical association)	0.000
HSBP1L1	PBX4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): HSBP1L1 (Affinity Capture-RNA), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid), HSBP1L1 (Two-hybrid)

ESM2 similar proteins: B2RXB2, B5X3I1, C9JCN9, D4A7N1, D4A9E1, O75506, P58686, Q0P4J3, Q0VCF3, Q13503, Q2NKS9, Q3TY65, Q3ZC22, Q4R6N3, Q4V7L5, Q5E9D3, Q5EAU9, Q5FWT9, Q5R561, Q5R8J5, Q5RDI2, Q5RE46, Q5RGJ6, Q5ZKJ4, Q66H15, Q68EW7, Q6DF11, Q6ID77, Q6IP02, Q6P255, Q6TA25, Q7SYL1, Q7T338, Q8AVR2, Q8GW48, Q8K3X8, Q8R0H9, Q99LE1, Q9BRQ6, Q9BRV8

Diamond homologs: B2RXB2, C9JCN9, D4A9E1, Q8GW48

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4279287	GRCh37/hg19 18q23(chr18:77685396-77744941)x1	Pathogenic

SpliceAI

1063 predictions. Top by Δscore:

Variant	Effect	Δscore
18:79964784:GCG:G	donor_gain	0.9900
18:79964784:GCGGT:G	donor_loss	0.9900
18:79964785:CGGTG:C	donor_loss	0.9900
18:79964786:GGTGA:G	donor_loss	0.9900
18:79964787:G:A	donor_loss	0.9900
18:79964787:G:GG	donor_gain	0.9900
18:79964788:T:G	donor_loss	0.9900
18:79966736:G:GT	donor_gain	0.9900
18:79967987:A:AG	acceptor_gain	0.9900
18:79967988:A:G	acceptor_gain	0.9900
18:79967990:A:AG	acceptor_gain	0.9900
18:79967991:G:GG	acceptor_gain	0.9900
18:79964739:G:GT	donor_gain	0.9800
18:79965317:A:T	donor_gain	0.9800
18:79965515:T:TA	acceptor_gain	0.9800
18:79967991:GTT:G	acceptor_gain	0.9800
18:79964781:G:GT	donor_gain	0.9700
18:79964789:GA:G	donor_loss	0.9700
18:79966758:T:TA	donor_gain	0.9700
18:79966759:A:AA	donor_gain	0.9700
18:79968045:C:CA	acceptor_gain	0.9700
18:79965516:G:A	acceptor_gain	0.9600
18:79970438:A:AG	acceptor_gain	0.9600
18:79970439:G:GG	acceptor_gain	0.9600
18:79965316:G:GT	donor_gain	0.9500
18:79966676:G:GT	donor_gain	0.9500
18:79966725:T:TA	donor_gain	0.9500
18:79966726:A:AA	donor_gain	0.9500
18:79967982:A:AG	acceptor_gain	0.9500
18:79970435:A:G	acceptor_gain	0.9500

AlphaMissense

486 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:79966634:T:C	L25P	0.851
18:79966645:T:C	F29L	0.842
18:79966647:T:A	F29L	0.842
18:79966647:T:G	F29L	0.842
18:79966655:T:C	L32P	0.835
18:79968099:G:A	M43I	0.832
18:79968099:G:C	M43I	0.832
18:79968099:G:T	M43I	0.832
18:79968151:G:C	A61P	0.824
18:79968119:T:C	L50S	0.819
18:79968107:G:C	R46P	0.814
18:79966651:G:C	A31P	0.794
18:79966667:T:C	L36S	0.767
18:79968131:T:A	V54D	0.760
18:79966646:T:C	F29S	0.758
18:79968140:T:C	L57S	0.719
18:79966660:G:C	A34P	0.712
18:79968144:G:A	M58I	0.711
18:79968144:G:C	M58I	0.711
18:79968144:G:T	M58I	0.711
18:79966646:T:G	F29C	0.706
18:79966622:T:C	L21P	0.696
18:79966612:G:C	A18P	0.684
18:79966634:T:A	L25H	0.637
18:79968155:G:T	G62V	0.631
18:79966643:A:C	H28P	0.625
18:79968110:T:A	I47N	0.605
18:79968098:T:G	M43R	0.598
18:79968110:T:G	I47S	0.596
18:79968152:C:A	A61D	0.593

dbSNP variants (sampled 300 via entrez): RS1000043686 (18:79969504 G>A), RS1000079281 (18:79965390 G>T), RS1001393359 (18:79964369 G>A,C), RS1001444695 (18:79969998 C>G), RS1001657849 (18:79964552 C>G), RS1003596581 (18:79966039 C>T), RS1003784879 (18:79971095 G>A), RS1003793025 (18:79969024 C>A), RS1003918184 (18:79965983 G>C), RS1004138997 (18:79965828 C>T), RS1005049427 (18:79966323 C>T), RS1005669407 (18:79968689 G>A,C), RS1006002880 (18:79967367 T>A), RS1006053870 (18:79967187 G>A,C), RS1006157852 (18:79963243 G>A)

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

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	3
Acetaminophen	decreases expression	2
Estradiol	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	decreases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Iron	decreases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Triclosan	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	increases expression, affects cotreatment, increases abundance	1

Clinical trials (associated diseases)

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