FAM174A

Summary

FAM174A (family with sequence similarity 174 member A, HGNC:24943) is a protein-coding gene on chromosome 5q21.1, encoding Membrane protein FAM174A (Q8TBP5).

Predicted to be located in membrane.

Source: NCBI Gene 345757 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_198507

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24943
Approved symbol	FAM174A
Name	family with sequence similarity 174 member A
Location	5q21.1
Locus type	gene with protein product
Status	Approved
Aliases	UNQ1912, NS5ATP6
Ensembl gene	ENSG00000174132
Ensembl biotype	protein_coding
Entrez	345757

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000312637, ENST00000505792, ENST00000509040, ENST00000715272

RefSeq mRNA: 1 — MANE Select: NM_198507 NM_198507

CCDS: CCDS4090

Canonical transcript exons

ENST00000312637 — 3 exons

Exon	Start	End
ENSE00001186125	100562054	100562188
ENSE00001368912	100586181	100586741
ENSE00004026412	100535374	100535964

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.7645 / max 268.7707, expressed in 1790 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57783	22.1026	1789
57784	1.1623	741
57786	0.6402	321
57782	0.3555	137
57785	0.2655	108
57787	0.2384	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.28	gold quality
bronchus	UBERON:0002185	98.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.84	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.82	gold quality
nasal cavity epithelium	UBERON:0005384	96.81	gold quality
esophagus squamous epithelium	UBERON:0006920	96.80	gold quality
left ventricle myocardium	UBERON:0006566	96.49	gold quality
nasal cavity mucosa	UBERON:0001826	96.17	gold quality
upper arm skin	UBERON:0004263	96.04	gold quality
caput epididymis	UBERON:0004358	95.93	gold quality
gingival epithelium	UBERON:0001949	95.91	gold quality
quadriceps femoris	UBERON:0001377	95.70	gold quality
gingiva	UBERON:0001828	95.69	gold quality
sperm	CL:0000019	95.68	gold quality
vastus lateralis	UBERON:0001379	95.67	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.67	gold quality
deltoid	UBERON:0001476	95.63	gold quality
epithelium of nasopharynx	UBERON:0001951	95.57	gold quality
palpebral conjunctiva	UBERON:0001812	95.53	gold quality
tibialis anterior	UBERON:0001385	95.47	gold quality
right uterine tube	UBERON:0001302	95.42	gold quality
penis	UBERON:0000989	95.40	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.38	gold quality
biceps brachii	UBERON:0001507	95.17	gold quality
adult organism	UBERON:0007023	95.14	gold quality
upper leg skin	UBERON:0004262	94.91	gold quality
eye	UBERON:0000970	94.81	gold quality
epithelial cell of pancreas	CL:0000083	94.61	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.24	gold quality
myocardium	UBERON:0002349	94.19	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting FAM174A, 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-340-5P	100.00	72.50	4437
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-545-5P	99.66	70.18	2308

Literature-anchored findings (GeneRIF, showing 1)

• NS5ATP6 regulates the intracellular triglyceride level via FGF21, and independently of SIRT1 and SREBP1. (PMID:27179781)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam174a	ENSMUSG00000051185
rattus_norvegicus	Fam174a	ENSRNOG00000019087

Protein

Protein identifiers

Membrane protein FAM174A — Q8TBP5 (reviewed: Q8TBP5)

Alternative names: Hepatitis C virus NS5A-transactivated protein 6, Transmembrane protein 157

All UniProt accessions (1): Q8TBP5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the FAM174 family.

RefSeq proteins (1): NP_940909* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009565	FAM174-like	Family

Pfam: PF06679

UniProt features (11 total): compositionally biased region 3, topological domain 2, region of interest 2, signal peptide 1, chain 1, glycosylation site 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBP5-F1	59.74	0.00

Functional residue map

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

Glycosylation sites (1): 83

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 106 (showing top): ATF_B, TGCGCANK_UNKNOWN, CREB_Q4, GTGCCTT_MIR506, ATF3_Q6, CREB_Q2_01, ELK1_01, NRF2_01, WHN_B, CUI_TCF21_TARGETS_2_DN, chr5q21, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ATF_01, CETS1P54_01, CREBP1CJUN_01

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM174A	RIOK2	Q9BVS4	521
FAM174A	ST8SIA4	Q92187	513
FAM174A	SEZ6L	Q9BYH1	475
FAM174A	GLYATL3	Q5SZD4	472
FAM174A	HEATR5B	Q9P2D3	452
FAM174A	VSIG10	Q8N0Z9	452
FAM174A	OR10V1	Q8NGI7	447
FAM174A	LIX1	Q8N485	438
FAM174A	RGMB	Q6NW40	438
FAM174A	SMIM3	Q9BZL3	423
FAM174A	RNF38	Q9H0F5	422
FAM174A	NRSN2	Q9GZP1	422
FAM174A	TTC17	Q96AE7	412
FAM174A	RRP15	Q9Y3B9	403
FAM174A	SNTN	A6NMZ2	400

IntAct

121 interactions, top by confidence:

A	B	Type	Score
NDUFB5	NDUFB3	psi-mi:“MI:0914”(association)	0.640
FAM174A	GAK	psi-mi:“MI:0914”(association)	0.640
STX7	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
ANKRD46	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	GIMAP5	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	TMEM239	psi-mi:“MI:0915”(physical association)	0.560
TMEM42	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
GOSR2	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
RTP2	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
VAPB	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	STX8	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	TMEM222	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	CMTM7	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	PLLP	psi-mi:“MI:0915”(physical association)	0.560
BNIP1	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
TMEM11	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	TMEM203	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
BET1	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
SMIM1	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	DEFB127	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	SERP1	psi-mi:“MI:0915”(physical association)	0.560
VAMP3	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
HMOX1	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMEM65	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	ERG28	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	SLC30A2	psi-mi:“MI:0915”(physical association)	0.560
NRAC	FAM174A	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	SEC22A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (271): FAM174A (Affinity Capture-MS), PEX19 (Affinity Capture-MS), TMEM168 (Affinity Capture-MS), FAM174A (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TTK (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), FAM174A (Affinity Capture-MS), FAM174A (Affinity Capture-MS), FAM118B (Affinity Capture-MS), ATP2B4 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), PPTC7 (Affinity Capture-MS), GOPC (Affinity Capture-MS)

ESM2 similar proteins: A0JPB5, A2A699, A5PLA0, A6QPA0, A8MVW0, B0BN44, B4DS77, D3ZZP4, O35451, P04921, P28906, Q06186, Q08DP3, Q08EA8, Q13113, Q1LVN1, Q28270, Q5F3A4, Q5FVQ7, Q5HZE8, Q5R5B8, Q60846, Q640B5, Q64314, Q7TNI2, Q810F0, Q86VZ4, Q8C4Q9, Q8CB67, Q8IUW5, Q8K064, Q8K201, Q8K2J7, Q8NC54, Q8NEA5, Q8R138, Q8TBP5, Q8WWG9, Q96L08, Q99941

Diamond homologs: A0JPB5, Q5FVQ7, Q640B5, Q8TBP5, Q9D3L0, Q1LVN1, Q1RMK9, Q3ZCQ3, Q8K064

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 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
COPII-mediated vesicle transport	5	27.2×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
endoplasmic reticulum to Golgi vesicle-mediated transport	6	20.9×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

658 predictions. Top by Δscore:

Variant	Effect	Δscore
5:100562045:A:AG	acceptor_gain	1.0000
5:100562045:ATTT:A	acceptor_gain	1.0000
5:100562046:T:G	acceptor_gain	1.0000
5:100562048:T:TA	acceptor_gain	1.0000
5:100562049:GATA:G	acceptor_loss	1.0000
5:100562051:TAGG:T	acceptor_loss	1.0000
5:100562052:A:AC	acceptor_loss	1.0000
5:100562052:A:AG	acceptor_gain	1.0000
5:100562052:AG:A	acceptor_gain	1.0000
5:100562053:G:GT	acceptor_gain	1.0000
5:100562053:GG:G	acceptor_gain	1.0000
5:100562053:GGA:G	acceptor_gain	1.0000
5:100562053:GGAT:G	acceptor_gain	1.0000
5:100562184:CGAAG:C	donor_gain	1.0000
5:100562185:GAAG:G	donor_gain	1.0000
5:100562185:GAAGG:G	donor_gain	1.0000
5:100562186:AAG:A	donor_gain	1.0000
5:100562186:AAGGT:A	donor_loss	1.0000
5:100562187:AG:A	donor_gain	1.0000
5:100562188:GG:G	donor_gain	1.0000
5:100562188:GGT:G	donor_loss	1.0000
5:100562189:G:GG	donor_gain	1.0000
5:100562189:GTA:G	donor_loss	1.0000
5:100586175:TTGCA:T	acceptor_loss	1.0000
5:100586176:TGCA:T	acceptor_loss	1.0000
5:100586177:GCA:G	acceptor_loss	1.0000
5:100586178:CAGA:C	acceptor_loss	1.0000
5:100586179:A:AG	acceptor_gain	1.0000
5:100586179:A:AT	acceptor_loss	1.0000
5:100586180:G:GC	acceptor_loss	1.0000

AlphaMissense

1207 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:100535924:A:C	S132R	0.999
5:100535926:C:A	S132R	0.999
5:100535926:C:G	S132R	0.999
5:100562166:T:C	F183L	0.999
5:100562167:T:G	F183C	0.999
5:100562168:T:A	F183L	0.999
5:100562168:T:G	F183L	0.999
5:100562095:T:C	L159S	0.998
5:100562086:A:G	Y156C	0.996
5:100562122:T:C	L168S	0.996
5:100535942:T:G	Y138D	0.995
5:100562085:T:C	Y156H	0.995
5:100562167:T:C	F183S	0.995
5:100535934:T:A	V135E	0.994
5:100535945:T:C	F139L	0.994
5:100535947:C:A	F139L	0.994
5:100535947:C:G	F139L	0.994
5:100535949:T:A	V140E	0.994
5:100535952:T:A	V141D	0.994
5:100535928:G:A	G133D	0.993
5:100562166:T:A	F183I	0.993
5:100535922:T:A	V131E	0.992
5:100535927:G:C	G133R	0.992
5:100535937:T:G	L136R	0.992
5:100535946:T:C	F139S	0.992
5:100562166:T:G	F183V	0.992
5:100535931:C:A	A134E	0.991
5:100535940:T:A	V137E	0.991
5:100562089:G:A	G157E	0.991
5:100562131:T:C	L171S	0.991

dbSNP variants (sampled 300 via entrez): RS1000018798 (5:100578809 A>G,T), RS1000026506 (5:100539680 T>C), RS1000034987 (5:100546056 A>G), RS1000047374 (5:100562898 G>T), RS1000099793 (5:100552388 A>G), RS1000237582 (5:100577130 A>G), RS1000277656 (5:100572571 G>A), RS1000280875 (5:100560410 C>T), RS1000293515 (5:100567097 C>T), RS1000353491 (5:100576732 T>A), RS1000362513 (5:100534691 C>G,T), RS1000366072 (5:100546151 C>G), RS1000432987 (5:100583552 A>G), RS1000569076 (5:100560633 A>G), RS1000584603 (5:100564384 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

1 associations (top):

Study	Trait	p-value
GCST006979_114	Heel bone mineral density	1.000000e-17

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression	3
Air Pollutants	increases abundance, decreases expression, increases expression, affects expression	3
methylmercuric chloride	decreases expression	2
Lead	affects expression, affects methylation	2
Particulate Matter	increases abundance, affects cotreatment, increases expression, decreases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
deguelin	decreases expression	1
K 7174	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
abrine	increases expression	1
pyrachlostrobin	decreases expression	1
picoxystrobin	decreases expression	1
NSC668394	increases expression	1
Leflunomide	increases expression	1
Antimycin A	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Bilirubin	decreases expression	1
Cisplatin	decreases expression	1
Demecolcine	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_WW15	NCC-375	Cancer cell line	Female

Clinical trials (associated diseases)

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