SEC14L5

Summary

SEC14L5 (SEC14 like lipid binding 5, HGNC:29032) is a protein-coding gene on chromosome 16p13.3, encoding SEC14-like protein 5 (O43304).

Predicted to be located in mitochondrial intermembrane space. Predicted to be active in cytoplasm.

Source: NCBI Gene 9717 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 156 total
• MANE Select transcript: NM_014692

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29032
Approved symbol	SEC14L5
Name	SEC14 like lipid binding 5
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0420, PRELID4B
Ensembl gene	ENSG00000103184
Ensembl biotype	protein_coding
OMIM	619412
Entrez	9717

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000251170, ENST00000587469, ENST00000867654, ENST00000867655, ENST00000945616

RefSeq mRNA: 1 — MANE Select: NM_014692 NM_014692

CCDS: CCDS45403

Canonical transcript exons

ENST00000251170 — 16 exons

Exon	Start	End
ENSE00000667462	4990767	4990895
ENSE00000802164	5011095	5011273
ENSE00000802165	5008421	5008648
ENSE00000802166	5007352	5007486
ENSE00000802167	5005914	5006048
ENSE00000802169	5000855	5000925
ENSE00000802170	5000655	5000743
ENSE00000802171	4996855	4997044
ENSE00000802172	4996348	4996460
ENSE00000802173	4991838	4992030
ENSE00000898361	4987557	4987706
ENSE00000944190	4988149	4988280
ENSE00001178287	4959273	4959386
ENSE00001178294	5014859	5019157
ENSE00001318124	4958330	4958445
ENSE00001622705	5003402	5003573

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 94.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2222 / max 184.0964, expressed in 175 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152509	1.9851	162
152510	0.1684	70
152511	0.0687	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	94.40	gold quality
cranial nerve II	UBERON:0000941	93.21	gold quality
inferior olivary complex	UBERON:0002127	92.30	gold quality
postcentral gyrus	UBERON:0002581	91.64	gold quality
endothelial cell	CL:0000115	91.60	gold quality
CA1 field of hippocampus	UBERON:0003881	91.01	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.87	gold quality
parietal lobe	UBERON:0001872	90.76	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.67	gold quality
corpus callosum	UBERON:0002336	90.65	gold quality
primary visual cortex	UBERON:0002436	90.25	gold quality
spinal cord	UBERON:0002240	90.20	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.91	gold quality
occipital lobe	UBERON:0002021	89.44	gold quality
olfactory bulb	UBERON:0002264	89.41	silver quality
middle frontal gyrus	UBERON:0002702	89.38	gold quality
orbitofrontal cortex	UBERON:0004167	89.26	gold quality
subthalamic nucleus	UBERON:0001906	88.92	gold quality
middle temporal gyrus	UBERON:0002771	88.78	gold quality
superior frontal gyrus	UBERON:0002661	88.52	gold quality
medulla oblongata	UBERON:0001896	88.07	gold quality
globus pallidus	UBERON:0001875	87.85	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	87.72	gold quality
medial globus pallidus	UBERON:0002477	87.69	gold quality
midbrain	UBERON:0001891	86.33	gold quality
lateral globus pallidus	UBERON:0002476	86.24	gold quality
substantia nigra	UBERON:0002038	86.23	gold quality
Ammon’s horn	UBERON:0001954	85.95	gold quality
ventral tegmental area	UBERON:0002691	85.72	gold quality
dorsal plus ventral thalamus	UBERON:0001897	85.44	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

126 targeting SEC14L5, 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-4425	100.00	67.59	1049
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-150-5P	99.99	66.69	1976
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-520F-3P	99.82	71.32	1216

Literature-anchored findings (GeneRIF, showing 1)

• This analysis revealed highly connected functional interaction networks with two candidate genes, IL15 and SEC14L5 highly enriched in networks. Overall, from these results, we concluded that these genes can be recommended as some of the potential targets for Post-Traumatic Stress Disorder. (PMID:27997584)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sec14l5	ENSMUSG00000091712
rattus_norvegicus	Sec14l5	ENSRNOG00000002917
drosophila_melanogaster	retm	FBGN0031814
drosophila_melanogaster	CG13893	FBGN0035146
caenorhabditis_elegans		WBGENE00007925
caenorhabditis_elegans		WBGENE00009241
caenorhabditis_elegans	ctg-1	WBGENE00010370
caenorhabditis_elegans		WBGENE00011962

Paralogs (6): SEC14L2 (ENSG00000100003), SEC14L3 (ENSG00000100012), SEC14L1 (ENSG00000129657), SEC14L4 (ENSG00000133488), TTPA (ENSG00000137561), SEC14L6 (ENSG00000214491)

Protein

Protein identifiers

SEC14-like protein 5 — O43304 (reviewed: O43304)

All UniProt accessions (2): O43304, K7ERV2

RefSeq proteins (1): NP_055507* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001251	CRAL-TRIO_dom	Domain
IPR006797	PRELI/MSF1_dom	Domain
IPR009038	GOLD_dom	Domain
IPR011074	CRAL/TRIO_N_dom	Domain
IPR036273	CRAL/TRIO_N_dom_sf	Homologous_superfamily
IPR036598	GOLD_dom_sf	Homologous_superfamily
IPR036865	CRAL-TRIO_dom_sf	Homologous_superfamily
IPR051064

Pfam: PF00650, PF03765, PF04707

UniProt features (5 total): domain 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43304-F1	79.49	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): THUM_SYSTOLIC_HEART_FAILURE_DN, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_UP, KIM_ALL_DISORDERS_DURATION_CORR_DN, ONKEN_UVEAL_MELANOMA_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, CBX5_TARGET_GENES, GREB1_TARGET_GENES, HHEX_TARGET_GENES, HMG20B_TARGET_GENES, ZNF10_TARGET_GENES, ZNF239_TARGET_GENES, MIR570_3P, MIR24_3P, MIR155_5P, MIR4742_5P

GO Biological Process (0):

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

GO Cellular Component (2): cytoplasm (GO:0005737), mitochondrial intermembrane space (GO:0005758)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
mitochondrial envelope	1
organelle envelope lumen	1

Protein interactions and networks

STRING

642 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEC14L5	ALG1	Q9BT22	959
SEC14L5	PRSS33	Q8NF86	467
SEC14L5	ANO3	Q9BYT9	430
SEC14L5	RNF169	Q8NCN4	425
SEC14L5	HYKK	A2RU49	420
SEC14L5	HAPLN2	Q9GZV7	408
SEC14L5	C2orf80	Q0P641	400
SEC14L5	ZNF449	Q6P9G9	396
SEC14L5	EVA1B	Q9NVM1	369
SEC14L5	SLC35F4	A4IF30	367
SEC14L5	PRRC2B	Q5JSZ5	355
SEC14L5	RBMS3	Q6XE24	349
SEC14L5	OR2B6	P58173	348
SEC14L5	CCDC73	Q6ZRK6	348
SEC14L5	GTF2IRD2B	Q6EKJ0	341

IntAct

4 interactions, top by confidence:

A	B	Type	Score
SEC14L5	PSMC6	psi-mi:“MI:0915”(physical association)	0.560
SEC14L5	PSMC6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): SEC14L5 (Affinity Capture-MS), SEC14L5 (Two-hybrid), SEC14L5 (Affinity Capture-MS), SEC14L5 (PCA), SEC14L5 (Affinity Capture-RNA), SEC14L5 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0JMH0, A2ARP1, A5PK74, A7Z050, A9JTG5, B5DE73, B5DFG1, D3YY23, D3ZU57, O00562, O35954, O43304, P0C644, P0CB42, P16386, Q01433, Q02356, Q09200, Q10468, Q32P28, Q3SZL5, Q3U308, Q3V1T4, Q4KLM6, Q5HZW3, Q5RDF1, Q5RF50, Q5U2N3, Q5ZMM1, Q68J42, Q6ICH7, Q6JHU7, Q6PD26, Q6PFW1, Q6YRM6, Q80VP9, Q86TL0, Q8BGV9, Q8BGW1, Q8CG71

Diamond homologs: A8Y5H7, B5MCN3, F4IHJ0, F4J7S8, F4JLE5, F4JVA6, F4JVA9, F4JYJ3, F4K6D3, O43304, O76054, P49193, P58875, Q03606, Q0V9N0, Q16KN5, Q29JQ0, Q7PWB1, Q8GXC6, Q8R0F9, Q92503, Q93ZE9, Q94A34, Q99J08, Q99MS0, Q9SI13, Q9SIW3, Q9UDX3, Q9UDX4, Q9VMD6, Q9Z1J8, Q10137, F4HP88, P24280, P24859, P33324, P45816, P46250, P53989, Q501H5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	140
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3046 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4987703:G:GT	donor_gain	1.0000
16:4987704:A:T	donor_gain	1.0000
16:4988145:GCA:G	acceptor_loss	1.0000
16:4988147:A:AG	acceptor_gain	1.0000
16:4988147:AGATC:A	acceptor_gain	1.0000
16:4988148:G:GG	acceptor_gain	1.0000
16:4988148:GA:G	acceptor_gain	1.0000
16:4988148:GATC:G	acceptor_gain	1.0000
16:4988148:GATCG:G	acceptor_gain	1.0000
16:4988277:CACGG:C	donor_loss	1.0000
16:4988278:ACGGT:A	donor_loss	1.0000
16:4988279:CGGTG:C	donor_loss	1.0000
16:4988280:GGTGA:G	donor_loss	1.0000
16:4988281:G:GG	donor_gain	1.0000
16:4988282:T:A	donor_loss	1.0000
16:4990762:TTCA:T	acceptor_loss	1.0000
16:4990764:CA:C	acceptor_loss	1.0000
16:4990765:A:AG	acceptor_gain	1.0000
16:4990765:AGGTC:A	acceptor_loss	1.0000
16:4990766:G:GG	acceptor_gain	1.0000
16:4990766:GGTCC:G	acceptor_gain	1.0000
16:4990891:AGAGG:A	donor_gain	1.0000
16:4990892:GAGG:G	donor_gain	1.0000
16:4990892:GAGGG:G	donor_gain	1.0000
16:4990894:GG:G	donor_gain	1.0000
16:4990895:GG:G	donor_gain	1.0000
16:4990896:G:GG	donor_gain	1.0000
16:4990896:GT:G	donor_loss	1.0000
16:4990897:T:G	donor_loss	1.0000
16:4996345:AAG:A	acceptor_gain	1.0000

AlphaMissense

4547 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:5007377:T:A	V488D	0.996
16:5011137:T:A	W615R	0.996
16:5011137:T:C	W615R	0.996
16:5006023:C:A	P471H	0.995
16:5008460:T:A	W538R	0.995
16:5008460:T:C	W538R	0.995
16:4997026:T:A	W318R	0.994
16:4997026:T:C	W318R	0.994
16:5003542:C:A	A424D	0.992
16:5000676:T:C	L331P	0.991
16:5000700:A:T	K339I	0.991
16:5000701:A:C	K339N	0.991
16:5000701:A:T	K339N	0.991
16:5003416:T:C	L382P	0.991
16:5006023:C:G	P471R	0.991
16:5008494:T:C	F549S	0.991
16:4987572:T:C	F27L	0.990
16:4987574:C:A	F27L	0.990
16:4987574:C:G	F27L	0.990
16:5000685:G:A	G334D	0.990
16:5003533:T:A	I421N	0.990
16:5003539:G:C	R423P	0.990
16:5006028:T:C	F473L	0.990
16:5006030:C:A	F473L	0.990
16:5006030:C:G	F473L	0.990
16:4988213:T:C	L93P	0.989
16:4996882:T:C	F270L	0.989
16:4996884:C:A	F270L	0.989
16:4996884:C:G	F270L	0.989
16:5003425:T:C	L385P	0.989

dbSNP variants (sampled 300 via entrez): RS1000013590 (16:5013709 C>G), RS1000032997 (16:4987901 G>A), RS1000074618 (16:4983592 T>C), RS1000111049 (16:5012420 A>G), RS1000137407 (16:4958335 G>C,T), RS1000150945 (16:4992467 G>A,C), RS1000162578 (16:5014782 C>A), RS1000167176 (16:4958151 A>G,T), RS1000167805 (16:5002343 C>T), RS1000200020 (16:4958043 C>A,G,T), RS1000200847 (16:5004220 G>A,T), RS1000258553 (16:4975289 G>A), RS1000289596 (16:4975027 C>T), RS1000329060 (16:4992881 T>G), RS1000359251 (16:4962865 A>G)

Disease associations

OMIM: gene MIM:619412 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001823_22	Metabolite levels (HVA/MHPG ratio)	2.000000e-06
GCST004599_107	Mean platelet volume	3.000000e-19
GCST004616_181	Platelet distribution width	2.000000e-15
GCST004797_12	Brain volume in infants (grey matter)	1.000000e-06
GCST008403_13	Arterial stiffness index	6.000000e-06
GCST90002395_186	Mean platelet volume	4.000000e-42
GCST90002401_107	Platelet distribution width	4.000000e-38
GCST90002402_177	Platelet count	7.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0005133	MHPG measurement
EFO:0007984	platelet component distribution width
EFO:0008368	infant grey matter volume measurement
EFO:0004517	arterial stiffness measurement
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, increases methylation	3
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Benzo(a)pyrene	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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