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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBL4B
ubiquitin like 4B
Chromosome 1 · 1p13.3
NCBI Gene: 164153Ensembl: ENSG00000186150.5HGNC: HGNC:32309UniProt: Q8N7F7
11PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of protein localization to mitochondrioncytoplasmglomerulonephritisopen-angle glaucomaglaucomageneralized dystonia
✦AI Summary

UBL4B is a ubiquitin-like protein that functions in post-meiotic germ cells and mitochondrial regulation. This autosomal retrogene arose from X-linked UBL4A through retroposition during mammalian evolution and is restricted to post-meiotic spermatids and spermatozoa 1. UBL4B localizes to mitochondria in ejaculated sperm and serves as a downstream target of MAEL protein 2. The protein plays a critical role in mitochondrial function and ATP production; knockdown studies demonstrate that loss of UBL4B impairs mitochondrial integrity 2. UBL4B expression is significantly reduced in asthenozoospermic (low motility) sperm compared to normal controls, and its levels positively correlate with sperm motility parameters, suggesting involvement in spermatozoan function 2. Beyond reproductive tissues, UBL4B is aberrantly expressed in ovarian cancers despite its testis-specific origin, potentially offering diagnostic or therapeutic value 3. Additionally, UBL4B was identified as a potential biomarker associated with Parkinson's disease progression rates in peripheral blood 4, and has been implicated in colonic diverticulosis genetics 5. These findings indicate UBL4B regulates mitochondrial protein localization and function with broader pathophysiological implications beyond reproduction.

Sources cited
1
UBL4B is a testis-specific retrogene derived from X-linked UBL4A, expressed specifically in post-meiotic germ cells
PMID: 16872915
2
UBL4B localizes to mitochondria in spermatozoa, is a MAEL downstream target, essential for mitochondrial function and ATP production, and correlates with sperm motility
PMID: 36779514
3
UBL4B is aberrantly expressed in normal ovarian tissue and ovarian cancers despite being testis-specific
PMID: 19333399
4
UBL4B identified as potential biomarker associated with Parkinson's disease progression rates
PMID: 29936662
5
UBL4B implicated in genetic determinants of colonic diverticulosis
PMID: 40428403
Disease Associationsⓘ11
glomerulonephritisOpen Targets
0.31Weak
open-angle glaucomaOpen Targets
0.07Suggestive
glaucomaOpen Targets
0.06Suggestive
generalized dystoniaOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALX3Protein interaction93%TEX15Protein interaction93%SLC6A17Protein interaction93%BAG6Protein interaction83%UBL5Shared pathway50%NMT1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
5%
Bone Marrow
2%
Liver
1%
Lung
1%
Heart
0%
Gene Interaction Network
Click a node to explore
UBL4BALX3TEX15SLC6A17BAG6UBL5NMT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N7F7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.72LoF Tolerant
pLIⓘ
0.41Tolerant
Observed/Expected LoF0.00 [0.00–1.72]
RankingsWhere UBL4B stands among ~20K protein-coding genes
  • #16,935of 20,598
    Most Researched11
  • #16,206of 17,882
    Most Constrained (LOEUF)1.72
Genes detectedUBL4B
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Progression Rate Associated Peripheral Blood Biomarkers of Parkinson's Disease.
PMID: 29936662
J Mol Neurosci · 2018
1.00
2
The MAEL expression in mitochondria of human spermatozoa and the association with asthenozoospermia.
PMID: 36779514
Andrology · 2023
0.83
3
Genetic Determinants of Colonic Diverticulosis-A Systematic Review.
PMID: 40428403
Genes (Basel) · 2025
0.67
4
Ubl4b, an X-derived retrogene, is specifically expressed in post-meiotic germ cells in mammals.
PMID: 16872915
Gene Expr Patterns · 2007
0.50
5
Generation of mice with conditional null allele for GdX/Ubl4A.
PMID: 22139977
Genesis · 2012
0.33