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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM171A1
family with sequence similarity 171 member A1
Chromosome 10 · 10p13
NCBI Gene: 221061Ensembl: ENSG00000148468.18HGNC: HGNC:23522UniProt: B3KMX9
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of cell shapestress fiber assemblyplasma membranealcohol drinkinginborn disorder of amino acid metabolismbladder calculusheart disease
✦AI Summary

FAM171A1 (also known as Astroprincin/APCN) is a 98-kDa type 1 transmembrane glycoprotein that regulates cytoskeletal dynamics and cell shape through modulation of actin stress fiber formation 1. Functionally, FAM171A1 overexpression induces cellular sprouting and invasive growth potential in tumor cells, while its knockdown causes disappearance of actin stress fibers 1. The protein contains a conserved carboxyterminal domain essential for these morphological effects and interacts with multiple partners including ADAM10 and ornithine decarboxylase antizyme-1 1. In cancer contexts, FAM171A1 exhibits elevated expression in invasive tumor cells compared to intratumoral cells 1. High FAM171A1 expression constitutes an independent marker of poor prognosis in colon cancer, independent of stage, grade, age, or gender 2. In triple-negative breast cancer, FAM171A1 functions as a hub gene regulated by miR-9-3p and serves as a prognostic biomarker 3. Additionally, exosomal lncRNA SNHG14 from breast cancer cells upregulates FAM171A1 through the EBF1 axis to promote fibroblast-to-CAF transformation 4. Beyond oncology, FAM171A1 emerged as a diagnostic biomarker for age-related sarcopenia, identified through WGCNA and LASSO analyses 5 6, and was associated with cataract risk in Mendelian randomization studies 7.

Sources cited
1
FAM171A1/Astroprincin is a transmembrane protein regulating actin stress fiber dynamics; overexpression induces sprouting and invasive growth while knockdown eliminates stress fibers
PMID: 30312582
2
High FAM171A1 expression is an independent marker of poor prognosis in colon cancer
PMID: 34481452
3
FAM171A1 is a hub gene and prognostic biomarker in triple-negative breast cancer, regulated by miR-9-3p
PMID: 31649243
4
FAM171A1 is upregulated via the EBF1 axis by exosomal lncRNA SNHG14 to promote normal fibroblast to cancer-associated fibroblast transformation
PMID: 37653187
5
FAM171A1 is a diagnostic biomarker for age-related sarcopenia identified through WGCNA and LASSO analysis
PMID: 36147639
6
FAM171A1 is a key gene for sarcopenia diagnosis identified through random forest analysis
PMID: 36050999
7
FAM171A1 was identified as a risk factor for cataract in bidirectional Mendelian randomization analysis
PMID: 41407891
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.43Moderate
inborn disorder of amino acid metabolismOpen Targets
0.28Weak
bladder calculusOpen Targets
0.24Weak
heart diseaseOpen Targets
0.22Weak
facial morphologyOpen Targets
0.22Weak
Abruptio PlacentaeOpen Targets
0.22Weak
Hodgkins lymphomaOpen Targets
0.22Weak
obesityOpen Targets
0.22Weak
rotator cuff tearOpen Targets
0.22Weak
nerve plexus diseaseOpen Targets
0.21Weak
osteoarthritisOpen Targets
0.21Weak
JaundiceOpen Targets
0.21Weak
nephrotic syndromeOpen Targets
0.20Weak
liver diseaseOpen Targets
0.20Weak
Parkinson diseaseOpen Targets
0.20Weak
Genu varumOpen Targets
0.16Weak
placenta praeviaOpen Targets
0.16Weak
Genu valgumOpen Targets
0.12Weak
ovarian neoplasmOpen Targets
0.11Weak
triple-negative breast cancerOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PALMDShared pathway50%PALM2AKAP2Shared pathway50%TBCCD1Shared pathway33%BRWD3Shared pathway33%BRWD1Shared pathway33%COCHShared pathway33%
Tissue Expression6 tissues
Brain
100%
Liver
39%
Heart
36%
Ovary
29%
Lung
11%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
FAM171A1PALMDPALM2AKAP2TBCCD1BRWD3BRWD1COCH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VUB5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.23–0.45]
RankingsWhere FAM171A1 stands among ~20K protein-coding genes
  • #10,622of 20,598
    Most Researched37
  • #2,474of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedFAM171A1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Exploring specific prognostic biomarkers in triple-negative breast cancer.
PMID: 31649243
Cell Death Dis · 2019
1.00
2
Astroprincin (FAM171A1, C10orf38): A Regulator of Human Cell Shape and Invasive Growth.
PMID: 30312582
Am J Pathol · 2019
0.86
3
Mendelian randomization and bioinformatics analysis identify the association between plasma proteins and cataract.
PMID: 41407891
Sci Rep · 2025
0.71
4
Breast cancer-derived exosomal lncRNA SNHG14 induces normal fibroblast activation to cancer-associated fibroblasts via the EBF1/FAM171A1 axis.
PMID: 37653187
Breast Cancer · 2023
0.57
5
Screening Potential Diagnostic Biomarkers for Age-Related Sarcopenia in the Elderly Population by WGCNA and LASSO.
PMID: 36147639
Biomed Res Int · 2022
0.43