ANXA8L1

Summary

ANXA8L1 (annexin A8 like 1, HGNC:23334) is a protein-coding gene on chromosome 10q11.22, encoding Annexin A8-like protein 1 (Q5VT79).

This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10.

Source: NCBI Gene 728113 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_001098845

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23334
Approved symbol	ANXA8L1
Name	annexin A8 like 1
Location	10q11.22
Locus type	gene with protein product
Status	Approved
Aliases	bA301J7.3, bA145E20.2
Ensembl gene	ENSG00000264230
Ensembl biotype	protein_coding
Entrez	728113

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron

ENST00000584982, ENST00000611655, ENST00000613703, ENST00000619162, ENST00000620353, ENST00000622769, ENST00000856539, ENST00000856540, ENST00000856541, ENST00000856542, ENST00000950800

RefSeq mRNA: 3 — MANE Select: NM_001098845 NM_001098845, NM_001278923, NM_001278924

CCDS: CCDS73097, CCDS73098, CCDS73099

Canonical transcript exons

ENST00000619162 — 12 exons

Exon	Start	End
ENSE00002694544	46384774	46384833
ENSE00002695784	46385712	46385807
ENSE00002698568	46387586	46387644
ENSE00002698852	46385380	46385473
ENSE00002701510	46383456	46383546
ENSE00002710601	46384206	46384285
ENSE00002712453	46388393	46388515
ENSE00002721442	46382579	46382692
ENSE00002733141	46379885	46379975
ENSE00003726429	46375776	46375872
ENSE00003732654	46381146	46381240
ENSE00003734855	46390871	46391778

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 98.44.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1694 / max 820.3448, expressed in 320 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
205846	3.4833	286
104804	0.4960	139
205844	0.1687	72
205845	0.0214	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	98.44	gold quality
zone of skin	UBERON:0000014	98.07	gold quality
skin of leg	UBERON:0001511	97.80	gold quality
esophagus mucosa	UBERON:0002469	97.43	gold quality
lower esophagus mucosa	UBERON:0035834	97.36	gold quality
placenta	UBERON:0001987	91.43	gold quality
right lung	UBERON:0002167	88.99	gold quality
vagina	UBERON:0000996	88.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.49	gold quality
upper lobe of left lung	UBERON:0008952	84.87	gold quality
omental fat pad	UBERON:0010414	82.72	gold quality
lung	UBERON:0002048	81.07	gold quality
minor salivary gland	UBERON:0001830	80.71	gold quality
saliva-secreting gland	UBERON:0001044	79.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.20	gold quality
urinary bladder	UBERON:0001255	76.03	gold quality
right uterine tube	UBERON:0001302	74.28	gold quality
esophagus	UBERON:0001043	73.88	gold quality
tonsil	UBERON:0002372	72.95	gold quality
fallopian tube	UBERON:0003889	70.78	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	68.05	gold quality
prostate gland	UBERON:0002367	67.82	gold quality
left uterine tube	UBERON:0001303	66.18	gold quality
thoracic mammary gland	UBERON:0005200	65.33	gold quality
granulocyte	CL:0000094	64.22	gold quality
adipose tissue	UBERON:0001013	62.88	gold quality
colonic epithelium	UBERON:0000397	61.89	silver quality
uterine cervix	UBERON:0000002	61.82	gold quality
right lobe of liver	UBERON:0001114	61.08	gold quality
endocervix	UBERON:0000458	60.88	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-86618	yes	673.66
E-CURD-10	yes	140.75
E-ANND-3	yes	16.22
E-GEOD-130148	yes	8.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO4

miRNA regulators (miRDB)

31 targeting ANXA8L1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-219A-1-3P	98.91	67.87	639
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-222-5P	98.75	69.17	1242
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-3661	97.83	67.30	705
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-631	97.05	66.93	602
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-342-3P	96.44	67.48	1344
HSA-MIR-4259	95.68	65.25	582

Literature-anchored findings (GeneRIF, showing 1)

• Claudin 18 and annexin A8 are frequently highly overexpressed in infiltrating ductal adenocarcinomas. (PMID:18223320)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	anxa13l	ENSDARG00000013613
danio_rerio	anxa13	ENSDARG00000013976
danio_rerio	anxa14	ENSDARG00000100104
mus_musculus	Anxa8	ENSMUSG00000021950
rattus_norvegicus	Anxa8	ENSRNOG00000060949
drosophila_melanogaster	AnxB9	FBGN0000083
drosophila_melanogaster	AnxB11	FBGN0030749

Paralogs (12): ANXA13 (ENSG00000104537), ANXA10 (ENSG00000109511), ANXA11 (ENSG00000122359), ANXA1 (ENSG00000135046), ANXA7 (ENSG00000138279), ANXA3 (ENSG00000138772), ANXA9 (ENSG00000143412), ANXA5 (ENSG00000164111), ANXA2 (ENSG00000182718), ANXA4 (ENSG00000196975), ANXA6 (ENSG00000197043), ANXA8 (ENSG00000265190)

Protein

Protein identifiers

Annexin A8-like protein 1 — Q5VT79 (reviewed: Q5VT79)

All UniProt accessions (4): Q5VT79, A0A075B752, A0A087WUP0, B4DTF2

UniProt curated annotations — full annotation on UniProt →

Domain organisation. A pair of annexin repeats may form one binding site for calcium and phospholipid.

Similarity. Belongs to the annexin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5VT79-1	1	yes
Q5VT79-2	2

RefSeq proteins (3): NP_001092315, NP_001265852, NP_001265853 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001464	Annexin	Family
IPR009115	ANX8	Family
IPR018252	Annexin_repeat_CS	Conserved_site
IPR018502	Annexin_repeat	Repeat
IPR037104	Annexin_sf	Homologous_superfamily

Pfam: PF00191

UniProt features (15 total): repeat 4, binding site 4, splice variant 3, sequence variant 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VT79-F1	94.10	0.90

Functional residue map

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

Ligand- & substrate-binding residues (4): 266; 268; 270; 310

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_ENDOSOME_ORGANIZATION, GOBP_VESICLE_ORGANIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, XU_RESPONSE_TO_TRETINOIN_DN, MARTIN_VIRAL_GPCR_SIGNALING_UP, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, ABBUD_LIF_SIGNALING_1_UP, AFFAR_YY1_TARGETS_UP, KUNINGER_IGF1_VS_PDGFB_TARGETS_DN, ONGUSAHA_TP53_TARGETS, BURTON_ADIPOGENESIS_PEAK_AT_24HR

GO Biological Process (2): endosome organization (GO:0007032), endosomal transport (GO:0016197)

GO Molecular Function (4): phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), metal ion binding (GO:0046872)

GO Cellular Component (3): cytoplasm (GO:0005737), vesicle membrane (GO:0012506), sarcolemma (GO:0042383)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phospholipid binding	2
endomembrane system organization	1
vesicle organization	1
vesicle-mediated transport	1
intracellular transport	1
anion binding	1
modified amino acid binding	1
metal ion binding	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
organelle membrane	1
vesicle	1
plasma membrane	1

Protein interactions and networks

STRING

628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANXA8L1	FOXO1	Q12778	397
ANXA8L1	ANTXRL	A6NF34	364
ANXA8L1	PLSCR4	Q9NRQ2	357
ANXA8L1	CCDC159	P0C7I6	352
ANXA8L1	KRT6A	P02538	348
ANXA8L1	ADGRF4	Q8IZF3	338
ANXA8L1	SPMIP2	Q96LM5	336
ANXA8L1	DSG3	P32926	314
ANXA8L1	KRT6B	P04259	306
ANXA8L1	CPO	Q8IVL8	296
ANXA8L1	DSC3	Q14574	294
ANXA8L1	UPK1B	O75841	290
ANXA8L1	KRT17	Q04695	274
ANXA8L1	EDNRB	P24530	272
ANXA8L1	KRT5	P13647	271

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
GOT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
CHMP3	COL1A1	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
PIGT	A2ML1	psi-mi:“MI:0914”(association)	0.350
C18orf21	A2ML1	psi-mi:“MI:0914”(association)	0.350
BMP4	A2ML1	psi-mi:“MI:0914”(association)	0.350
MYCBP	A2ML1	psi-mi:“MI:0914”(association)	0.350
PKP2	A2ML1	psi-mi:“MI:0914”(association)	0.350
RPL7L1	A2ML1	psi-mi:“MI:0914”(association)	0.350
RSRP1	A2ML1	psi-mi:“MI:0914”(association)	0.350
SMPD2	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ANXA8L1 (Affinity Capture-MS), ANXA8L1 (Affinity Capture-RNA), ANXA8L1 (Proximity Label-MS), ANXA8L1 (Proximity Label-MS), ANXA8L1 (Affinity Capture-RNA), ANXA8 (Cross-Linking-MS (XL-MS)), ANXA8L1 (Affinity Capture-RNA), ANXA8L1 (Proximity Label-MS), ANXA8L1 (Proximity Label-MS), ANXA8L1 (Reconstituted Complex), ANXA8L1 (Affinity Capture-MS), ANXA8L1 (Two-hybrid), ANXA8L1 (Two-hybrid), ANXA8L1 (Two-hybrid), ANXA8L1 (Two-hybrid)

ESM2 similar proteins: A2SW69, A5A6L7, A6NMY6, O35639, O35640, O97529, P04272, P07355, P07356, P08132, P08758, P09525, P12429, P13214, P13928, P14668, P14669, P14824, P14950, P17153, P17785, P19620, P22464, P24551, P24801, P26256, P27006, P27216, P48036, P50994, P51074, P55260, P70075, P81287, P93157, P97429, Q07936, Q29471, Q2Q1M6, Q3SWX7

Diamond homologs: A2SW69, A5A6L7, A5A6M2, A6NMY6, C0HJG9, C1L7Y4, C4QH88, O35639, O35640, O76027, O97529, P04083, P04272, P07150, P07355, P07356, P08132, P08133, P08758, P09525, P10107, P12429, P13214, P13928, P14087, P14668, P14669, P14824, P14950, P17153, P17785, P19619, P19620, P20072, P20073, P22464, P22465, P24551, P24639, P24801

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4596 predictions. Top by Δscore:

Variant	Effect	Δscore
10:46375871:GG:G	donor_gain	1.0000
10:46375871:GGGTA:G	donor_loss	1.0000
10:46375872:GG:G	donor_gain	1.0000
10:46375872:GGT:G	donor_loss	1.0000
10:46375873:G:GA	donor_loss	1.0000
10:46375874:T:A	donor_loss	1.0000
10:46381226:AG:A	donor_gain	1.0000
10:46381226:GC:G	donor_gain	1.0000
10:46381229:C:CC	donor_gain	1.0000
10:46381230:A:C	donor_gain	1.0000
10:46383769:C:A	donor_gain	1.0000
10:46383771:G:T	donor_gain	1.0000
10:46384306:C:CA	donor_gain	1.0000
10:46384307:G:GT	donor_gain	1.0000
10:46384346:C:CA	donor_gain	1.0000
10:46384347:G:GT	donor_gain	1.0000
10:46385709:C:CC	acceptor_gain	1.0000
10:46385710:A:AG	acceptor_gain	1.0000
10:46385711:G:GG	acceptor_gain	1.0000
10:46375868:CCTGG:C	donor_gain	0.9900
10:46375869:CTGG:C	donor_gain	0.9900
10:46375870:TGG:T	donor_gain	0.9900
10:46375871:GGG:G	donor_gain	0.9900
10:46375873:G:GG	donor_gain	0.9900
10:46379881:GCAG:G	acceptor_loss	0.9900
10:46379881:T:G	acceptor_loss	0.9900
10:46379882:C:CC	acceptor_gain	0.9900
10:46379882:CA:C	acceptor_loss	0.9900
10:46379882:CAGAT:C	acceptor_loss	0.9900
10:46379883:A:AG	acceptor_gain	0.9900

AlphaMissense

2188 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:46382676:T:C	L102P	0.996
10:46384828:G:C	A183P	0.994
10:46382684:G:C	A105P	0.993
10:46381220:T:C	F63L	0.992
10:46381222:C:A	F63L	0.992
10:46381222:C:G	F63L	0.992
10:46381200:G:C	R56P	0.991
10:46385384:T:C	L186P	0.990
10:46385465:T:C	L213P	0.989
10:46388474:T:C	F295L	0.989
10:46388476:C:A	F295L	0.989
10:46388476:C:G	F295L	0.989
10:46385392:G:C	A189P	0.988
10:46385760:T:A	I232N	0.988
10:46385429:T:C	F201S	0.987
10:46382595:T:C	L75S	0.985
10:46388440:G:C	R283S	0.985
10:46388440:G:T	R283S	0.985
10:46383502:G:C	R123P	0.984
10:46385384:T:A	L186Q	0.984
10:46385760:T:G	I232S	0.984
10:46382666:G:C	A99P	0.983
10:46384829:C:A	A183E	0.983
10:46385428:T:C	F201L	0.983
10:46385430:C:A	F201L	0.983
10:46385430:C:G	F201L	0.983
10:46379952:T:A	L30H	0.982
10:46385450:G:C	R208P	0.982
10:46385792:G:C	A243P	0.982
10:46385799:T:C	L245P	0.982

dbSNP variants (sampled 300 via entrez): RS10906955 (10:46375353 A>G), RS10909676 (10:46373950 G>A,C), RS10909681 (10:46376741 C>G,T), RS111241278 (10:46391031 C>A,G,T), RS111611425 (10:46376497 T>A), RS112369793 (10:46380288 T>C), RS112515531 (10:46380351 G>C), RS11259805 (10:46375306 A>G), RS112668902 (10:46392210 G>A), RS112732724 (10:46388704 C>G,T), RS113092268 (10:46374638 A>G), RS115627825 (10:46390356 G>A,C), RS1156374332 (10:46376260 A>T), RS1156445012 (10:46375648 C>T), RS1156785813 (10:46378323 G>A,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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	increases methylation, decreases expression	2
pyrogallol 1,3-dimethyl ether	affects localization, increases expression, affects cotreatment	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
cupric chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	increases expression	1
dinophysistoxin 1	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
pyrachlostrobin	decreases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cytarabine	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects binding, increases expression	1
Furaldehyde	increases expression, decreases expression, affects cotreatment, affects localization	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Smoke	decreases expression	1
Sodium Chloride	affects cotreatment, affects localization, decreases expression, increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Dronabinol	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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