Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	553115
Gene name	Penta-EF-hand domain containing 1
Gene symbol	PEF1
Synonyms (NCBI Gene)	ABP32PEF1A
Chromosome	1
Chromosome location	1p35.2
Summary	This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternativ

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041409	hsa-miR-193b-3p	CLASH	23622248
MIRT040231	hsa-miR-615-3p	CLASH	23622248
MIRT036731	hsa-miR-760	CLASH	23622248
MIRT036056	hsa-miR-1301-3p	CLASH	23622248
MIRT1224609	hsa-miR-1207-3p	CLIP-seq
MIRT1224610	hsa-miR-1207-5p	CLIP-seq
MIRT1224611	hsa-miR-136	CLIP-seq
MIRT1224612	hsa-miR-197	CLIP-seq
MIRT1224613	hsa-miR-3117-5p	CLIP-seq
MIRT1224614	hsa-miR-3184	CLIP-seq
MIRT1224615	hsa-miR-3654	CLIP-seq
MIRT1224616	hsa-miR-3670	CLIP-seq
MIRT1224617	hsa-miR-423-5p	CLIP-seq
MIRT1224618	hsa-miR-4468	CLIP-seq
MIRT1224619	hsa-miR-4633-3p	CLIP-seq
MIRT1224620	hsa-miR-4637	CLIP-seq
MIRT1224621	hsa-miR-4638-3p	CLIP-seq
MIRT1224622	hsa-miR-4642	CLIP-seq
MIRT1224623	hsa-miR-4711-5p	CLIP-seq
MIRT1224624	hsa-miR-4720-5p	CLIP-seq
MIRT1224625	hsa-miR-4736	CLIP-seq
MIRT1224626	hsa-miR-4742-5p	CLIP-seq
MIRT1224627	hsa-miR-4763-3p	CLIP-seq
MIRT1224628	hsa-miR-4764-3p	CLIP-seq
MIRT1224629	hsa-miR-4786-3p	CLIP-seq
MIRT1224630	hsa-miR-4799-3p	CLIP-seq
MIRT1224631	hsa-miR-615-5p	CLIP-seq
MIRT1224632	hsa-miR-885-5p	CLIP-seq
MIRT2065535	hsa-miR-3187-3p	CLIP-seq
MIRT2065536	hsa-miR-3688-5p	CLIP-seq
MIRT2065537	hsa-miR-4252	CLIP-seq
MIRT2065538	hsa-miR-4281	CLIP-seq
MIRT1224618	hsa-miR-4468	CLIP-seq
MIRT2065539	hsa-miR-4529-5p	CLIP-seq
MIRT2065540	hsa-miR-644	CLIP-seq
MIRT2065541	hsa-miR-767-3p	CLIP-seq
MIRT1224609	hsa-miR-1207-3p	CLIP-seq
MIRT2293310	hsa-miR-2467-3p	CLIP-seq
MIRT2293311	hsa-miR-298	CLIP-seq
MIRT1224613	hsa-miR-3117-5p	CLIP-seq
MIRT2293312	hsa-miR-3158-5p	CLIP-seq
MIRT2293313	hsa-miR-3616-3p	CLIP-seq
MIRT1224615	hsa-miR-3654	CLIP-seq
MIRT2293314	hsa-miR-3678-3p	CLIP-seq
MIRT2065537	hsa-miR-4252	CLIP-seq
MIRT2293315	hsa-miR-4436b-3p	CLIP-seq
MIRT1224618	hsa-miR-4468	CLIP-seq
MIRT1224620	hsa-miR-4637	CLIP-seq
MIRT1224621	hsa-miR-4638-3p	CLIP-seq
MIRT1224628	hsa-miR-4764-3p	CLIP-seq
MIRT1224610	hsa-miR-1207-5p	CLIP-seq
MIRT2591321	hsa-miR-1231	CLIP-seq
MIRT2591322	hsa-miR-147	CLIP-seq
MIRT2591323	hsa-miR-1915	CLIP-seq
MIRT2591324	hsa-miR-1972	CLIP-seq
MIRT2293310	hsa-miR-2467-3p	CLIP-seq
MIRT2293311	hsa-miR-298	CLIP-seq
MIRT2591325	hsa-miR-3115	CLIP-seq
MIRT2293312	hsa-miR-3158-5p	CLIP-seq
MIRT1224614	hsa-miR-3184	CLIP-seq
MIRT2591326	hsa-miR-3194-5p	CLIP-seq
MIRT2293313	hsa-miR-3616-3p	CLIP-seq
MIRT2293314	hsa-miR-3678-3p	CLIP-seq
MIRT2065536	hsa-miR-3688-5p	CLIP-seq
MIRT2591327	hsa-miR-3911	CLIP-seq
MIRT2591328	hsa-miR-3918	CLIP-seq
MIRT2591329	hsa-miR-3926	CLIP-seq
MIRT1224617	hsa-miR-423-5p	CLIP-seq
MIRT2065537	hsa-miR-4252	CLIP-seq
MIRT2591330	hsa-miR-4270	CLIP-seq
MIRT2591331	hsa-miR-4288	CLIP-seq
MIRT2591332	hsa-miR-4303	CLIP-seq
MIRT2591333	hsa-miR-4323	CLIP-seq
MIRT2293315	hsa-miR-4436b-3p	CLIP-seq
MIRT2591334	hsa-miR-4441	CLIP-seq
MIRT2591335	hsa-miR-4455	CLIP-seq
MIRT2591336	hsa-miR-4457	CLIP-seq
MIRT1224618	hsa-miR-4468	CLIP-seq
MIRT2591337	hsa-miR-4514	CLIP-seq
MIRT2591338	hsa-miR-4640-5p	CLIP-seq
MIRT2591339	hsa-miR-4645-5p	CLIP-seq
MIRT2591340	hsa-miR-4650-5p	CLIP-seq
MIRT2591341	hsa-miR-4670-3p	CLIP-seq
MIRT2591342	hsa-miR-4673	CLIP-seq
MIRT2591343	hsa-miR-4691-5p	CLIP-seq
MIRT2591344	hsa-miR-4692	CLIP-seq
MIRT2591345	hsa-miR-4726-5p	CLIP-seq
MIRT2591346	hsa-miR-4731-3p	CLIP-seq
MIRT1224625	hsa-miR-4736	CLIP-seq
MIRT1224626	hsa-miR-4742-5p	CLIP-seq
MIRT1224627	hsa-miR-4763-3p	CLIP-seq
MIRT1224629	hsa-miR-4786-3p	CLIP-seq
MIRT2591347	hsa-miR-4801	CLIP-seq
MIRT2591348	hsa-miR-548s	CLIP-seq
MIRT2591349	hsa-miR-609	CLIP-seq
MIRT1224631	hsa-miR-615-5p	CLIP-seq
MIRT2591350	hsa-miR-632	CLIP-seq
MIRT2065540	hsa-miR-644	CLIP-seq
MIRT1224610	hsa-miR-1207-5p	CLIP-seq
MIRT2591321	hsa-miR-1231	CLIP-seq
MIRT2591323	hsa-miR-1915	CLIP-seq
MIRT2293310	hsa-miR-2467-3p	CLIP-seq
MIRT2293311	hsa-miR-298	CLIP-seq
MIRT2293312	hsa-miR-3158-5p	CLIP-seq
MIRT1224614	hsa-miR-3184	CLIP-seq
MIRT2591326	hsa-miR-3194-5p	CLIP-seq
MIRT2293313	hsa-miR-3616-3p	CLIP-seq
MIRT2293314	hsa-miR-3678-3p	CLIP-seq
MIRT2591328	hsa-miR-3918	CLIP-seq
MIRT2591329	hsa-miR-3926	CLIP-seq
MIRT1224617	hsa-miR-423-5p	CLIP-seq
MIRT2591330	hsa-miR-4270	CLIP-seq
MIRT2591331	hsa-miR-4288	CLIP-seq
MIRT2591332	hsa-miR-4303	CLIP-seq
MIRT2591333	hsa-miR-4323	CLIP-seq
MIRT2293315	hsa-miR-4436b-3p	CLIP-seq
MIRT2591334	hsa-miR-4441	CLIP-seq
MIRT1224618	hsa-miR-4468	CLIP-seq
MIRT2591337	hsa-miR-4514	CLIP-seq
MIRT2591338	hsa-miR-4640-5p	CLIP-seq
MIRT2591339	hsa-miR-4645-5p	CLIP-seq
MIRT2591341	hsa-miR-4670-3p	CLIP-seq
MIRT2591342	hsa-miR-4673	CLIP-seq
MIRT2591344	hsa-miR-4692	CLIP-seq
MIRT2591345	hsa-miR-4726-5p	CLIP-seq
MIRT1224625	hsa-miR-4736	CLIP-seq
MIRT1224626	hsa-miR-4742-5p	CLIP-seq
MIRT1224627	hsa-miR-4763-3p	CLIP-seq
MIRT1224629	hsa-miR-4786-3p	CLIP-seq
MIRT2591348	hsa-miR-548s	CLIP-seq
MIRT1224631	hsa-miR-615-5p	CLIP-seq
MIRT2591350	hsa-miR-632	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	10486255
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 21988832, 25416956, 30190310, 31515488, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IDA	11278427
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	27716508
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0014029	Process	Neural crest formation	IMP	27716508
GO:0014032	Process	Neural crest cell development	IMP	27716508
GO:0016020	Component	Membrane	IEA
GO:0030127	Component	COPII vesicle coat	IDA	27716508
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	27716508
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	11278427
GO:0046983	Function	Protein dimerization activity	IPI	11883899
GO:0048208	Process	COPII vesicle coating	IBA
GO:0048208	Process	COPII vesicle coating	IMP	27716508
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	27716508
GO:0051592	Process	Response to calcium ion	IPI	11278427
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:1902527	Process	Positive regulation of protein monoubiquitination	IMP	27716508
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IMP	27716508

MIM	HGNC	e!Ensembl
610033	30009	ENSG00000162517

Q9UBV8

Protein name

Peflin (PEF protein with a long N-terminal hydrophobic domain) (Penta-EF hand domain-containing protein 1)

Protein function

Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as a calcium-dependent adapter for the BCR(KLHL12) complex, a complex

PDB

8RBH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	116 → 181	EF-hand domain pair	Domain
PF13405	EF-hand_6	185 → 218	EF-hand domain	Domain

Sequence

MASYPYRQGCPGAAGQAPGAPPGSYYPGPPNSGGQYGSGLPPGGGYGGPAPGGPYGPPAG
GGPYGHPNPGMFPSGTPGGPYGGAAPGGPYGQPPPSSYGAQQPGLYGQGGAPPNVDPEAY
SWFQSVDSDHSGYISMKELKQALVNCNWSSFNDETCLMMINMFDKTKSGRIDVYGFSALW
KFIQQWKNLFQQYDRDRSGSISYTELQQALSQMGYNLSPQFTQLLVSRYCPRSANPAMQL
DRFIQVCTQLQVLTEAFREKDTAVQGNIRLSFEDFVTMTASRML

Sequence length

284

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Diabetes Mellitus Type 2	Associate	37679740	★★★★★ ★☆☆☆☆ Found in Text Mining only

PEF1 (penta-EF-hand domain containing 1)