FAM133A

Summary

FAM133A (family with sequence similarity 133 member A, HGNC:26748) is a protein-coding gene on chromosome Xq21.32, encoding Protein FAM133A (Q8N9E0).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_001171109

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26748
Approved symbol	FAM133A
Name	family with sequence similarity 133 member A
Location	Xq21.32
Locus type	gene with protein product
Status	Approved
Aliases	RP1-32F7.2, FLJ37659, CT115
Ensembl gene	ENSG00000179083
Ensembl biotype	protein_coding
Entrez	286499

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000322139, ENST00000332647, ENST00000683942, ENST00000867403, ENST00000867404, ENST00000867405, ENST00000936616, ENST00000936617, ENST00000936618

RefSeq mRNA: 4 — MANE Select: NM_001171109 NM_001171109, NM_001171110, NM_001171111, NM_173698

CCDS: CCDS14466

Canonical transcript exons

ENST00000683942 — 4 exons

Exon	Start	End
ENSE00001426654	93709317	93712265
ENSE00001459463	93698397	93698485
ENSE00001459465	93674206	93674274
ENSE00002302359	93674681	93674752

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 95.45.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4910 / max 244.0114, expressed in 124 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196891	0.2582	73
196892	0.2328	87

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	95.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.29	gold quality
endothelial cell	CL:0000115	83.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.45	gold quality
middle temporal gyrus	UBERON:0002771	81.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.77	gold quality
entorhinal cortex	UBERON:0002728	79.84	gold quality
postcentral gyrus	UBERON:0002581	78.35	gold quality
superior frontal gyrus	UBERON:0002661	77.87	gold quality
primary visual cortex	UBERON:0002436	77.66	gold quality
parietal lobe	UBERON:0001872	75.54	gold quality
testis	UBERON:0000473	74.12	gold quality
germinal epithelium of ovary	UBERON:0001304	73.78	gold quality
right testis	UBERON:0004534	73.54	gold quality
occipital lobe	UBERON:0002021	73.27	gold quality
left testis	UBERON:0004533	73.25	gold quality
nucleus accumbens	UBERON:0001882	72.71	gold quality
hypothalamus	UBERON:0001898	71.88	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	70.99	gold quality
temporal lobe	UBERON:0001871	70.80	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.43	gold quality
cerebral cortex	UBERON:0000956	69.37	gold quality
pancreatic ductal cell	CL:0002079	69.07	silver quality
anterior cingulate cortex	UBERON:0009835	69.05	gold quality
forebrain	UBERON:0001890	68.79	gold quality
Brodmann (1909) area 46	UBERON:0006483	68.56	gold quality
Ammon’s horn	UBERON:0001954	68.51	gold quality
neocortex	UBERON:0001950	68.41	gold quality
caudate nucleus	UBERON:0001873	68.40	gold quality
frontal cortex	UBERON:0001870	68.09	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-8060	no	96.16
E-ANND-3	no	3.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

107 targeting FAM133A, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam133b	ENSDARG00000013863

Paralogs (1): FAM133B (ENSG00000234545)

Protein

Protein identifiers

Protein FAM133A — Q8N9E0 (reviewed: Q8N9E0)

All UniProt accessions (1): Q8N9E0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM133 family.

RefSeq proteins (4): NP_001164580, NP_001164581, NP_001164582, NP_775969 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026766	Fam133	Family

UniProt features (11 total): compositionally biased region 8, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9E0-F1	63.48	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, FREAC2_01, TGACATY_UNKNOWN, TCCCRNNRTGC_UNKNOWN, ZHAN_MULTIPLE_MYELOMA_MS_DN, TGATTTRY_GFI1_01, KOYAMA_SEMA3B_TARGETS_DN, chrXq21, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF618_TARGET_GENES, MIR607, MIR5688, MIR30B_5P_MIR30C_5P, MIR30D_5P, MIR30E_5P

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM133A	SPANXN4	Q5MJ08	541
FAM133A	KLHDC8B	Q8IXV7	536
FAM133A	TENT5D	Q8NEK8	492
FAM133A	PRR19	A6NJB7	411
FAM133A	OR4N5	Q8IXE1	405
FAM133A	C3orf70	A6NLC5	395
FAM133A	CCDC73	Q6ZRK6	379
FAM133A	OR4K14	Q8NGD5	379
FAM133A	ZBED11	P0CF97	375
FAM133A	DHRS13	Q6UX07	325
FAM133A	C1orf50	Q9BV19	316
FAM133A	ZMAT2	Q96NC0	306
FAM133A	GCSAML	Q5JQS6	301
FAM133A	TENT5C	Q5VWP2	297
FAM133A	THOC7	Q6I9Y2	295

IntAct

83 interactions, top by confidence:

A	B	Type	Score
SDCBP2	FAM133A	psi-mi:“MI:0915”(physical association)	0.840
FAM133A	SDCBP2	psi-mi:“MI:0915”(physical association)	0.840
FAM133A	TRIM23	psi-mi:“MI:0915”(physical association)	0.720
CEP70	FAM133A	psi-mi:“MI:0915”(physical association)	0.720
FAM133A	STAC3	psi-mi:“MI:0915”(physical association)	0.720
FAM133A	THAP1	psi-mi:“MI:0915”(physical association)	0.720
FAM133A	CEP70	psi-mi:“MI:0915”(physical association)	0.720
STAC3	FAM133A	psi-mi:“MI:0915”(physical association)	0.720
THAP1	FAM133A	psi-mi:“MI:0915”(physical association)	0.720
TRIM23	FAM133A	psi-mi:“MI:0915”(physical association)	0.720
NOS1AP	FAM133A	psi-mi:“MI:0915”(physical association)	0.670
CSNK2A1	FAM133A	psi-mi:“MI:0915”(physical association)	0.670
FAM133A	BEND7	psi-mi:“MI:0915”(physical association)	0.560
PRR13	FAM133A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (91): FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Affinity Capture-MS), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid), FAM133A (Two-hybrid)

ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, G2TRQ9, O14256, O55035, P30189, P30414, P41512, Q04750, Q07050, Q13427, Q27450, Q28EE8, Q3KPW4, Q4V9W2, Q505I5, Q59LQ5, Q5BKY9, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6BNE1, Q6NQD9, Q6NWI1, Q6ZUT1, Q751P0, Q7L4I2, Q7YR26, Q80SY5, Q8GWY0, Q8N9E0, Q8N9Q2, Q8R0F5

Diamond homologs: A1A5I1, Q505I5, Q5BKY9, Q5ZLM8, Q8N9E0, Q9CVI2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

976 predictions. Top by Δscore:

Variant	Effect	Δscore
X:93698380:T:G	acceptor_gain	1.0000
X:93698383:A:AG	acceptor_gain	1.0000
X:93698383:ATCT:A	acceptor_gain	1.0000
X:93698386:T:A	acceptor_gain	1.0000
X:93698388:T:TA	acceptor_gain	1.0000
X:93709313:ACAG:A	acceptor_loss	1.0000
X:93709314:CAGAA:C	acceptor_loss	1.0000
X:93709315:A:AG	acceptor_gain	1.0000
X:93709315:A:AT	acceptor_loss	1.0000
X:93709315:AGAAT:A	acceptor_gain	1.0000
X:93709316:G:GG	acceptor_gain	1.0000
X:93709316:GA:G	acceptor_gain	1.0000
X:93709316:GAAT:G	acceptor_gain	1.0000
X:93709316:GAATG:G	acceptor_gain	1.0000
X:93674749:AAAGG:A	donor_loss	0.9900
X:93674751:AGGT:A	donor_loss	0.9900
X:93674753:G:A	donor_loss	0.9900
X:93674754:T:G	donor_loss	0.9900
X:93698379:A:AG	acceptor_gain	0.9900
X:93698384:T:G	acceptor_gain	0.9900
X:93698389:G:A	acceptor_gain	0.9900
X:93698392:A:AG	acceptor_gain	0.9900
X:93698395:A:G	acceptor_gain	0.9900
X:93674275:G:GG	donor_gain	0.9800
X:93709316:GAA:G	acceptor_gain	0.9800
X:93698396:G:GG	acceptor_gain	0.9700
X:93708163:G:GC	acceptor_gain	0.9700
X:93709303:T:TA	acceptor_gain	0.9700
X:93674272:GCC:G	donor_gain	0.9600
X:93674284:T:G	donor_gain	0.9600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000126466 (X:93710438 T>G), RS1000312681 (X:93688832 C>T), RS1000343873 (X:93688304 T>C), RS1000525225 (X:93676273 T>C), RS1000595321 (X:93679994 G>T), RS1000681015 (X:93686199 A>G), RS1000693466 (X:93699901 T>C), RS1000916025 (X:93696193 C>G,T), RS1000957872 (X:93675842 T>A), RS1000993498 (X:93703873 G>A), RS1001092755 (X:93708275 G>A), RS1001125171 (X:93707941 A>G), RS1001201035 (X:93677173 T>A,C), RS1001284447 (X:93695879 T>C,G), RS1001356168 (X:93690472 T>C)

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

2 associations (top):

Study	Trait	p-value
GCST009391_281	Metabolite levels	2.000000e-06
GCST009391_298	Metabolite levels	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010424	triacylglycerol 54:6 measurement
EFO:0010425	triacylglycerol 54:7 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Aflatoxin B1	affects expression, decreases methylation	2
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Aldehydes	increases expression	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	decreases expression, affects cotreatment	1
Lead	affects expression	1
Triclosan	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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