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GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM91A1
family with sequence similarity 91 member A1
Chromosome 8 · 8q24.13
NCBI Gene: 157769Ensembl: ENSG00000176853.16HGNC: HGNC:26306UniProt: B4DUD8
73PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintracellular protein transportvesicle tethering to Golgitrans-Golgi networkazoospermiaMale infertility with spermatogenesis disorder due to single gene mutationFemale infertility due to fertilization defectRare genetic female infertility
✦AI Summary

FAM91A1 is a component of the WDR11 complex that functions downstream of the AP-1 clathrin coat to mediate vesicle tethering and cargo protein transport 1. The WDR11-FAM91A1 complex recognizes acidic-cluster-containing cargo proteins in a sequence-specific manner, facilitating endosome-to-trans-Golgi network (TGN) trafficking 1. FAM91A1 directly interacts with TBC1D23 to regulate endosomal trafficking of KIAA0319L, a protein essential for axonal growth and neuronal development 2. Mutations in FAM91A1 or its binding partner WDR11 are associated with pontocerebellar hypoplasia (PCH), a neurodevelopmental disorder, suggesting that disrupted endosomal trafficking underlies this condition 2. Beyond its canonical trafficking function, FAM91A1 expression is dysregulated in certain cancers; high expression correlates with poor prognosis in osteosarcoma 3, and FAM91A1 has been identified as part of oncogenic fusion events in breast cancer 4. Additionally, FAM91A1 expression is regulated by microRNA-mediated mechanisms in embryonic stem cells, where it participates in pluripotency maintenance 5.

Sources cited
1
WDR11-FAM91A1 complex recognizes super acidic clusters (SACs) and functions downstream of AP-1 to facilitate protein trafficking from endosomes to TGN
PMID: 39013469
2
FAM91A1 and TBC1D23 interact to regulate endosome-to-Golgi trafficking of KIAA0319L; mutations associated with pontocerebellar hypoplasia
PMID: 37903274
3
High FAM91A1 expression is associated with poor prognosis in osteosarcoma
PMID: 35610231
4
FAM91A1 participates in NRG1 fusion events in breast cancer
PMID: 33413557
5
FAM91A1 expression is regulated by miRNA-mediated mechanisms in embryonic stem cell pluripotency maintenance
PMID: 27520307
Disease Associationsⓘ20
azoospermiaOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
Rare genetic female infertilityOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 3Open Targets
0.06Suggestive
spermatogenic failure 55Open Targets
0.06Suggestive
spermatogenic failure 26Open Targets
0.06Suggestive
spermatogenic failure 31Open Targets
0.06Suggestive
spermatogenic failure 53Open Targets
0.06Suggestive
spermatogenic failure 87Open Targets
0.06Suggestive
habitual abortionOpen Targets
0.06Suggestive
spermatogenic failure 23Open Targets
0.06Suggestive
spermatogenic failure 52Open Targets
0.06Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C17orf75Protein interaction98%TBC1D23Protein interaction82%RAB28Shared pathway50%SYNRGShared pathway50%SNX15Shared pathway50%DNAJC27Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
33%
Lung
28%
Ovary
24%
Brain
20%
Heart
15%
Gene Interaction Network
Click a node to explore
FAM91A1C17orf75TBC1D23RAB28SYNRGSNX15DNAJC27
PROTEIN STRUCTURE
Preparing viewer…
PDB8JJ9 · 2.51 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.24–0.46]
RankingsWhere FAM91A1 stands among ~20K protein-coding genes
  • #6,461of 20,598
    Most Researched73
  • #2,620of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedFAM91A1
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
The WDR11 complex is a receptor for acidic-cluster-containing cargo proteins.
PMID: 39013469
Cell · 2024
1.00
2
FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
PMID: 37903274
Proc Natl Acad Sci U S A · 2023
0.83
3
Integrative analysis of the proteome and transcriptome in gastric cancer identified LRP1B as a potential biomarker.
PMID: 36606427
Biomark Med · 2022
0.67
4
NRG1 fusions in breast cancer.
PMID: 33413557
Breast Cancer Res · 2021
0.50
5
The regulatory mechanism of LncRNA-mediated ceRNA network in osteosarcoma.
PMID: 35610231
Sci Rep · 2022
0.33