FAM171A1

Summary

FAM171A1 (family with sequence similarity 171 member A1, HGNC:23522) is a protein-coding gene on chromosome 10p13, encoding Protein FAM171A1 (Q5VUB5). Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.

Involved in regulation of cell shape and stress fiber assembly. Located in plasma membrane.

Source: NCBI Gene 221061 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 157 total
• MANE Select transcript: NM_001010924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23522
Approved symbol	FAM171A1
Name	family with sequence similarity 171 member A1
Location	10p13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12884, APCN
Ensembl gene	ENSG00000148468
Ensembl biotype	protein_coding
Entrez	221061

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000378116, ENST00000455654, ENST00000477161, ENST00000851196, ENST00000851197, ENST00000851198, ENST00000851199, ENST00000920233, ENST00000946312, ENST00000946313

RefSeq mRNA: 1 — MANE Select: NM_001010924 NM_001010924

CCDS: CCDS31154

Canonical transcript exons

ENST00000378116 — 8 exons

Exon	Start	End
ENSE00001164660	15254721	15254879
ENSE00001164666	15275855	15275947
ENSE00001164671	15283878	15284105
ENSE00001664835	15211643	15214601
ENSE00001760275	15215996	15216110
ENSE00001923221	15370956	15371289
ENSE00003550689	15220944	15221060
ENSE00003790876	15248639	15248815

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 99.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0119 / max 108.5483, expressed in 1302 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108420	3.8515	1168
108422	2.8630	1169
108421	0.2974	140

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	99.01	gold quality
middle temporal gyrus	UBERON:0002771	98.97	gold quality
subthalamic nucleus	UBERON:0001906	98.69	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	98.68	gold quality
medulla oblongata	UBERON:0001896	98.62	gold quality
pons	UBERON:0000988	98.45	gold quality
inferior olivary complex	UBERON:0002127	98.40	gold quality
superior vestibular nucleus	UBERON:0007227	98.37	gold quality
ventral tegmental area	UBERON:0002691	98.33	gold quality
renal medulla	UBERON:0000362	98.32	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.29	gold quality
CA1 field of hippocampus	UBERON:0003881	98.28	gold quality
middle frontal gyrus	UBERON:0002702	98.27	gold quality
lateral globus pallidus	UBERON:0002476	98.21	gold quality
parietal lobe	UBERON:0001872	98.11	gold quality
postcentral gyrus	UBERON:0002581	98.09	gold quality
entorhinal cortex	UBERON:0002728	97.82	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.61	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.55	gold quality
olfactory bulb	UBERON:0002264	97.39	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.34	gold quality
globus pallidus	UBERON:0001875	97.13	gold quality
superior frontal gyrus	UBERON:0002661	96.90	gold quality
spinal cord	UBERON:0002240	96.88	gold quality
substantia nigra pars compacta	UBERON:0001965	96.84	gold quality
medial globus pallidus	UBERON:0002477	96.80	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.64	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.64	gold quality
endothelial cell	CL:0000115	96.46	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	36.80
E-ANND-3	yes	5.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting FAM171A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379

Literature-anchored findings (GeneRIF, showing 1)

• APCN regulates the dynamics of the actin cytoskeletal and, thereby, the cell shape and invasive growth potential of tumor cells. (PMID:30312582)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam171a1	ENSDARG00000079788
mus_musculus	Fam171a1	ENSMUSG00000050530
rattus_norvegicus	Fam171a1	ENSRNOG00000016534

Paralogs (2): FAM171B (ENSG00000144369), FAM171A2 (ENSG00000161682)

Protein

Protein identifiers

Protein FAM171A1 — Q5VUB5 (reviewed: Q5VUB5)

Alternative names: Astroprincin

All UniProt accessions (2): Q5VUB5, Q5SW12

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.

Subunit / interactions. Interacts with ADAM10, NSG1 and OAZ1.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in heart, brain, liver, skeletal muscle, kidney and pancreas. In brain, expressed by glia, pyramidal neurons and astrocytes (at protein level). Highly expressed in placental trophoblasts.

Similarity. Belongs to the FAM171 family.

RefSeq proteins (1): NP_001010924* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018890	FAM171	Family
IPR048530	FAM171_N	Domain
IPR049175	FAM171_C	Domain

Pfam: PF10577, PF20771

UniProt features (30 total): modified residue 8, compositionally biased region 4, mutagenesis site 4, glycosylation site 3, sequence conflict 3, topological domain 2, region of interest 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VUB5-F1	57.15	0.22

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (8): 358, 360, 371, 422, 443, 525, 849, 855

Glycosylation sites (3): 159, 190, 194

Mutagenesis-validated functional residues (4):

Position	Phenotype
136	no effect on glycosylation.
159	decreases glycosylation levels. abolishes glycosylation; when associated with a-194.
190	no effect on glycosylation.
194	decreases glycosylation levels. abolishes glycosylation; when associated with a-159.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 172 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, CTATGCA_MIR153, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GTGCCTT_MIR506, chr10p13, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP

GO Biological Process (2): regulation of cell shape (GO:0008360), stress fiber assembly (GO:0043149)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cell morphogenesis	1
regulation of biological quality	1
contractile actin filament bundle assembly	1
actomyosin structure organization	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

460 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM171A1	RASSF10	A6NK89	539
FAM171A1	UNKL	Q9H9P5	518
FAM171A1	ARHGEF4	Q9NR80	428
FAM171A1	CAMKK1	Q8N5S9	427
FAM171A1	ADGRA3	Q8IWK6	425
FAM171A1	DUSP7	Q16829	414
FAM171A1	CERK	Q8TCT0	409
FAM171A1	SMTN	P53814	404
FAM171A1	TNFRSF10D	Q9UBN6	395
FAM171A1	KHNYN	O15037	393
FAM171A1	IQGAP1	P46940	386
FAM171A1	AVPR1A	P37288	381
FAM171A1	STAT1	P42224	371
FAM171A1	TBCEL	Q5QJ74	370
FAM171A1	KDM6B	O15054	368

IntAct

77 interactions, top by confidence:

A	B	Type	Score
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
STX12	SNAP23	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
RASSF10	FAM171A1	psi-mi:“MI:0915”(physical association)	0.560
FAM171B	FAM171A2	psi-mi:“MI:0914”(association)	0.530
TNFRSF17	TSPAN6	psi-mi:“MI:0914”(association)	0.530
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
FAM171A1	MYH9	psi-mi:“MI:0915”(physical association)	0.400
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CDK5RAP2	PDHX	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
TMEM74	KLRG2	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
BACE2	FAM171A2	psi-mi:“MI:0914”(association)	0.350
DCAF4L1	VWA8	psi-mi:“MI:0914”(association)	0.350
EFNB2	TCAF2	psi-mi:“MI:0914”(association)	0.350
FYN	MYCBP2	psi-mi:“MI:0914”(association)	0.350
P4HA3	ARHGAP10	psi-mi:“MI:0914”(association)	0.350

BioGRID (105): FAM171A1 (Affinity Capture-MS), FAM171A1 (Proximity Label-MS), FAM171A1 (Proximity Label-MS), FAM171A1 (Affinity Capture-MS), FAM171A1 (Affinity Capture-MS), FAM171A1 (Affinity Capture-MS), FAM171A1 (Affinity Capture-MS), FAM171A1 (Affinity Capture-RNA), FAM171A1 (Proximity Label-MS), FAM171A1 (Affinity Capture-RNA), RASSF10 (Two-hybrid), FAM171A1 (Proximity Label-MS), FAM171A1 (Proximity Label-MS), FAM171A1 (Proximity Label-MS), FAM171A1 (Proximity Label-MS)

ESM2 similar proteins: A0A1L8ER70, A1L253, A2AHC3, A5WUN7, B1AZP2, D4AEC2, O14490, P28290, P62024, P97836, P97839, Q148W8, Q14CH0, Q2KI52, Q2M3X8, Q3ZBW7, Q4KM62, Q4R2Y2, Q4R707, Q52KF3, Q5PQL8, Q5R3Z9, Q5RD34, Q5RJX2, Q5VUB5, Q5VZP5, Q5XII9, Q6GLU8, Q6NSV7, Q6P995, Q6PEI3, Q6RFY2, Q7T3E8, Q8BJ42, Q8BYK5, Q8C1B1, Q922B9, Q95X94, Q96BN6, Q96KR7

Diamond homologs: A1L3I3, A2A699, A8MVW0, Q14CH0, Q5RD34, Q5RJX2, Q5VUB5, Q6P995

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	83.3×	2e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	73.5×	3e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	73.5×	3e-10
Activation of BH3-only proteins	7	54.3×	2e-09
RHO GTPases activate PKNs	8	39.6×	2e-09
EPHA-mediated growth cone collapse	6	35.7×	4e-07
Intrinsic Pathway for Apoptosis	7	32.0×	8e-08
FOXO-mediated transcription	5	26.2×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	11	57.9×	1e-14
regulation of neuron differentiation	5	45.8×	7e-06
cell surface receptor protein tyrosine kinase signaling pathway	15	32.6×	4e-16
ephrin receptor signaling pathway	7	30.1×	5e-07
protein targeting	6	27.5×	7e-06
protein autophosphorylation	11	20.0×	2e-09
positive regulation of neuron projection development	9	15.4×	7e-07
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	12	11.8×	7e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

157 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	145
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2350 predictions. Top by Δscore:

Variant	Effect	Δscore
10:15248638:CCCAG:C	donor_gain	1.0000
10:15248812:TTTC:T	acceptor_gain	1.0000
10:15248813:TTC:T	acceptor_gain	1.0000
10:15248814:TC:T	acceptor_gain	1.0000
10:15248814:TCCTA:T	acceptor_loss	1.0000
10:15248815:CC:C	acceptor_gain	1.0000
10:15248816:C:CC	acceptor_gain	1.0000
10:15248817:T:C	acceptor_loss	1.0000
10:15252332:T:A	donor_gain	1.0000
10:15275948:C:CC	acceptor_gain	1.0000
10:15283872:CCTTA:C	donor_loss	1.0000
10:15283873:CTTA:C	donor_loss	1.0000
10:15283874:TTA:T	donor_loss	1.0000
10:15283875:TACCA:T	donor_loss	1.0000
10:15283876:A:AC	donor_gain	1.0000
10:15283876:A:AT	donor_loss	1.0000
10:15283877:C:CC	donor_gain	1.0000
10:15283877:CCAGG:C	donor_gain	1.0000
10:15283896:T:TA	donor_gain	1.0000
10:15284101:CACCT:C	acceptor_gain	1.0000
10:15284102:ACCT:A	acceptor_gain	1.0000
10:15284103:CCT:C	acceptor_gain	1.0000
10:15284103:CCTC:C	acceptor_gain	1.0000
10:15284104:CT:C	acceptor_gain	1.0000
10:15284104:CTC:C	acceptor_gain	1.0000
10:15284105:TC:T	acceptor_loss	1.0000
10:15284105:TCT:T	acceptor_gain	1.0000
10:15284106:C:A	acceptor_gain	1.0000
10:15284106:C:CC	acceptor_gain	1.0000
10:15284107:T:A	acceptor_loss	1.0000

AlphaMissense

5782 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:15212960:C:A	W876C	1.000
10:15212960:C:G	W876C	1.000
10:15212962:A:G	W876R	1.000
10:15212962:A:T	W876R	1.000
10:15213366:T:A	D741V	1.000
10:15213459:A:T	V710D	1.000
10:15213461:G:C	F709L	1.000
10:15213461:G:T	F709L	1.000
10:15213462:A:G	F709S	1.000
10:15213463:A:G	F709L	1.000
10:15213466:A:G	W708R	1.000
10:15213466:A:T	W708R	1.000
10:15213366:T:C	D741G	0.999
10:15213366:T:G	D741A	0.999
10:15213367:C:G	D741H	0.999
10:15213371:A:C	S739R	0.999
10:15213371:A:T	S739R	0.999
10:15213373:T:G	S739R	0.999
10:15213414:A:T	I725N	0.999
10:15213418:A:C	Y724D	0.999
10:15213421:A:G	S723P	0.999
10:15213429:A:T	V720D	0.999
10:15213462:A:C	F709C	0.999
10:15213464:C:A	W708C	0.999
10:15213464:C:G	W708C	0.999
10:15213840:A:T	I583N	0.999
10:15221055:A:G	W254R	0.999
10:15221055:A:T	W254R	0.999
10:15275878:A:T	V132D	0.999
10:15283940:A:T	V88D	0.999

dbSNP variants (sampled 300 via entrez): RS1000027271 (10:15348765 G>A), RS1000035516 (10:15290004 C>A,T), RS1000045966 (10:15270339 T>A), RS1000056494 (10:15306679 T>C), RS1000059562 (10:15365783 G>A), RS1000060899 (10:15275421 G>A), RS1000109341 (10:15301211 C>T), RS1000122197 (10:15329798 T>C), RS1000134418 (10:15256212 T>A), RS1000141442 (10:15294375 G>A,C), RS1000144670 (10:15348971 G>A), RS1000162224 (10:15345669 A>G), RS1000170892 (10:15214468 G>A,T), RS1000175126 (10:15233855 T>C,G), RS1000187716 (10:15331185 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002595_16	Clozapine-induced agranulocytosis	5.000000e-06
GCST002875_15	Diisocyanate-induced asthma	1.000000e-06
GCST003814_22	Selective IgA deficiency	5.000000e-06
GCST004902_34	Parkinson’s disease	1.000000e-08
GCST008468_12	Nonalcoholic fatty liver disease	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases mutagenesis	3
Tetrachlorodibenzodioxin	increases expression	3
Valproic Acid	affects expression, decreases expression, increases methylation	3
(+)-JQ1 compound	decreases expression	2
Cisplatin	affects cotreatment, decreases expression	2
Cadmium Chloride	increases abundance, increases palmitoylation, decreases expression, decreases reaction	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
arsenite	increases methylation	1
sodium arsenite	decreases expression	1
2-bromopalmitate	increases palmitoylation, decreases reaction, increases abundance	1
benzo(e)pyrene	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Caffeine	affects phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	affects response to substance	1
Estradiol	affects cotreatment, increases expression	1
Etoposide	affects response to substance	1
Fluorouracil	affects response to substance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.