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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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YIF1B
Yip1 interacting factor homolog B, membrane trafficking protein
Chromosome 19 Β· 19q13.2
NCBI Gene: 90522Ensembl: ENSG00000167645.18HGNC: HGNC:30511UniProt: Q5BJH7
51PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum to Golgi vesicle-mediated transportprotein bindingendoplasmic reticulum-Golgi intermediate compartmentGolgi apparatusKaya-Barakat-Masson syndromegenetic disordercancerneoplasm
✦AI Summary

YIF1B is a membrane trafficking protein that functions primarily in endoplasmic reticulum (ER) to Golgi vesicle-mediated transport and organizes these compartments 1. It localizes to the ER-Golgi intermediate compartment rather than the Golgi itself and regulates anterograde protein trafficking while facilitating proper Golgi architecture 1. YIF1B plays a critical role in targeting serotonin 5-HT1A receptors to neuronal dendrites through a vesicular scaffolding complex involving Yip1A, Rab6, and Kif5B 2. Additionally, YIF1B contributes to primary cilium and sperm flagellum assembly through protein transport 3. Dysfunction of YIF1B causes Kaya-Barakat-Masson syndrome (KABAMAS), a rare severe neurodevelopmental disorder characterized by global developmental delay, epileptic encephalopathy, microcephaly, movement disorders, visual deficits, and cerebellar atrophy 43. YIF1B knockout mice exhibit neuronal reduction, altered myelination, and primary cilium abnormalities 3. The protein's role in 5-HT1A receptor trafficking is critical for serotonin neurotransmission and antidepressant responseβ€”YIF1B expression is downregulated in depression and upregulated following fluoxetine treatment 5. YIF1B interacts with ABC transporter TAPL to facilitate its ER-to-Golgi trafficking via a salt bridge within TAPL's transmembrane domain 6. These findings establish YIF1B as essential for early post-natal neurological development and brain serotonin homeostasis.

Sources cited
1
YIF1B localizes to the ER-Golgi intermediate compartment, regulates anterograde protein traffic, and affects Golgi architecture in long-term depletion
PMID: 26077767
2
YIF1B serves as a scaffold protein recruiting 5-HT1A receptors in a complex with Yip1A, Rab6, and Kif5B for dendritic targeting
PMID: 23055492
3
YIF1B mutations cause neurodevelopmental delay with global developmental delay, motor delay, visual deficits, brain alterations, and primary cilium abnormalities
PMID: 33103737
4
YIF1B-related Kaya-Barakat-Masson syndrome presents with severe global developmental delay, epilepsy, microcephaly, dystonia, and other neurological features
PMID: 36948290
5
YIF1B regulates 5-HT1A receptor functioning and serotonin neurotransmission; expression is altered in depression and modified by fluoxetine treatment
PMID: 32459080
6
YIF1B interacts with TAPL through its transmembrane domain and is involved in ER-to-Golgi trafficking
PMID: 30877195
Disease Associationsβ“˜21
Kaya-Barakat-Masson syndromeOpen Targets
0.74Strong
genetic disorderOpen Targets
0.41Moderate
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
myxosarcomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
brain diseaseOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
Neurodevelopmental delayOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
neuropathyOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
esophageal carcinomaOpen Targets
0.00Suggestive
Kaya-Barakat-Masson syndromeUniProt
Pathogenic Variants9
NM_001039672.3(YIF1B):c.250del (p.Tyr84fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 84
NM_001039672.3(YIF1B):c.695+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001039672.3(YIF1B):c.297+1G>APathogenic
Kaya-Barakat-Masson syndrome
β˜…β˜†β˜†β˜†2024
NM_001039672.3(YIF1B):c.598G>T (p.Glu200Ter)Pathogenic
Kaya-Barakat-Masson syndrome|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 200
NM_001039672.3(YIF1B):c.539+1G>APathogenic
Kaya-Barakat-Masson syndrome|not provided
β˜…β˜†β˜†β˜†2022
NM_001039672.3(YIF1B):c.186dup (p.Ala63fs)Pathogenic
Inborn genetic diseases|Kaya-Barakat-Masson syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 63
NM_001039672.3(YIF1B):c.696-2A>CPathogenic
Kaya-Barakat-Masson syndrome
β˜†β˜†β˜†β˜†2022
NM_001039672.3(YIF1B):c.367A>C (p.Lys123Gln)Pathogenic
Kaya-Barakat-Masson syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 123
NM_001039672.3(YIF1B):c.360_361insACAT (p.Gly121fs)Pathogenic
Kaya-Barakat-Masson syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 121
View on ClinVar β†—
Related Genes
YIPF5Protein interaction89%YIPF7Protein interaction78%MDC1Protein interaction75%RABAC1Protein interaction74%RAB3IPShared pathway50%CFAP54Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
91%
Lung
83%
Ovary
62%
Heart
47%
Brain
45%
Gene Interaction Network
Click a node to explore
YIF1BYIPF5YIPF7MDC1RABAC1RAB3IPCFAP54
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5BJH7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.52–1.01]
RankingsWhere YIF1B stands among ~20K protein-coding genes
  • #8,757of 20,598
    Most Researched51
  • #2,968of 5,498
    Most Pathogenic Variants9
  • #9,765of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedYIF1B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review.
PMID: 36948290
Eur J Med Genet Β· 2023
1.00
2
Yif1B Is Involved in the Anterograde Traffic Pathway and the Golgi Architecture.
PMID: 26077767
Traffic Β· 2015
0.90
3
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
PMID: 33103737
Brain Β· 2020
0.80
4
Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.
PMID: 30877195
J Biol Chem Β· 2019
0.70
5
A new vesicular scaffolding complex mediates the G-protein-coupled 5-HT1A receptor targeting to neuronal dendrites.
PMID: 23055492
J Neurosci Β· 2012
0.60