SERBP1

protein-coding

SERPINE1 mRNA binding protein 1

Gene summary

Enables several functions, including SUMO binding activity; mRNA 3'-UTR binding activity; and translation repressor activity. Involved in PML body organization and ribosome hibernation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001018069.2

Inheritance

—

ClinVar variants

U:59

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.04

Max pathogenic AF

—

Genomic locus

chr1:67,407,810-67,430,415

External References & Databases

Ensembl (ENSG00000142864)

Transcript & Mutation Effects

hg38 • Region Span ~22.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SERBP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001018069.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			55 clinvar			55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	59	0	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 63 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001018069.2	RefSeq	NP_001018079.1	8	MANE Select
ENST00000361219.11	Ensembl	ENSP00000354591.6	8	MANE Select
NM_001018067.2	RefSeq	NP_001018077.1	8	Standard
NM_001018068.2	RefSeq	NP_001018078.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Apoptosis-related network due to altered Notch3 in ovarian cancer

Biological Process

regulation of apoptotic process
regulation of mRNA stability

Molecular Function

RNA binding
mRNA 3'-UTR binding
protein binding
cadherin binding

Cellular Component

nucleus
cytoplasm
cytosol
plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370995
Coding exons: 8
Length: 22606
Individuals with no LoFs: 124691
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 124695
p: 0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.67	178	253	0.705	0.0000149	2664
Missense (PolyPhen)		37	78.788	0.46962		936
Synonymous	-0.868	96	85.8	1.12	0.00000452	802
Loss of Function	4.57	1	26.3	0.0381	0.00000198	247

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.000038	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the regulation of mRNA stability. Binds to the 3'-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay. {ECO:0000269|PubMed:11001948}.;

Recessive Scores

pRec: 0.179

Intolerance Scores

LoFtool: 0.0209
RVIS EVS: -0.34
RVIS percentile EVS: 30.07

Essentials

Essential (CRISPR): N
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.970

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium