NCLN (nicalin)

Gene

• Entrez ID: 56926
• Gene name: Nicalin
• Gene symbol: NCLN
• Synonyms (NCBI Gene): NET59
• Chromosome: 19
• Chromosome location: 19p13.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519322	C>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051553	hsa-let-7e-5p	CLASH	23622248
MIRT043508	hsa-miR-331-3p	CLASH	23622248
MIRT039945	hsa-miR-615-3p	CLASH	23622248
MIRT039162	hsa-miR-769-5p	CLASH	23622248
MIRT039162	hsa-miR-769-5p	PAR-CLIP	27292025
MIRT1176596	hsa-miR-1197	CLIP-seq
MIRT1176597	hsa-miR-1908	CLIP-seq
MIRT1176598	hsa-miR-1915	CLIP-seq
MIRT1176599	hsa-miR-1976	CLIP-seq
MIRT1176600	hsa-miR-2355-5p	CLIP-seq
MIRT1176601	hsa-miR-31	CLIP-seq
MIRT1176602	hsa-miR-3130-5p	CLIP-seq
MIRT1176603	hsa-miR-3145-5p	CLIP-seq
MIRT1176604	hsa-miR-3191	CLIP-seq
MIRT1176605	hsa-miR-34a	CLIP-seq
MIRT1176606	hsa-miR-34c-5p	CLIP-seq
MIRT1176607	hsa-miR-3591-3p	CLIP-seq
MIRT1176608	hsa-miR-3960	CLIP-seq
MIRT1176609	hsa-miR-4261	CLIP-seq
MIRT1176610	hsa-miR-4269	CLIP-seq
MIRT1176611	hsa-miR-4270	CLIP-seq
MIRT1176612	hsa-miR-4290	CLIP-seq
MIRT1176613	hsa-miR-4441	CLIP-seq
MIRT1176614	hsa-miR-4468	CLIP-seq
MIRT1176615	hsa-miR-4482	CLIP-seq
MIRT1176616	hsa-miR-4496	CLIP-seq
MIRT1176617	hsa-miR-449a	CLIP-seq
MIRT1176618	hsa-miR-449b	CLIP-seq
MIRT1176619	hsa-miR-4632	CLIP-seq
MIRT1176620	hsa-miR-4645-5p	CLIP-seq
MIRT1176621	hsa-miR-4667-3p	CLIP-seq
MIRT1176622	hsa-miR-4673	CLIP-seq
MIRT1176623	hsa-miR-4691-5p	CLIP-seq
MIRT1176624	hsa-miR-4712-5p	CLIP-seq
MIRT1176625	hsa-miR-4722-3p	CLIP-seq
MIRT1176626	hsa-miR-4728-5p	CLIP-seq
MIRT1176627	hsa-miR-4733-3p	CLIP-seq
MIRT1176628	hsa-miR-4742-5p	CLIP-seq
MIRT1176629	hsa-miR-4756-3p	CLIP-seq
MIRT1176630	hsa-miR-486-3p	CLIP-seq
MIRT1176631	hsa-miR-508-5p	CLIP-seq
MIRT1176632	hsa-miR-542-5p	CLIP-seq
MIRT1176633	hsa-miR-577	CLIP-seq
MIRT1176634	hsa-miR-663	CLIP-seq
MIRT1176635	hsa-miR-744	CLIP-seq
MIRT1176636	hsa-miR-770-5p	CLIP-seq
MIRT1176637	hsa-miR-939	CLIP-seq
MIRT2051154	hsa-miR-1205	CLIP-seq
MIRT2051155	hsa-miR-1253	CLIP-seq
MIRT2051156	hsa-miR-150	CLIP-seq
MIRT2051157	hsa-miR-1587	CLIP-seq
MIRT2051158	hsa-miR-188-3p	CLIP-seq
MIRT2051159	hsa-miR-1909	CLIP-seq
MIRT1176598	hsa-miR-1915	CLIP-seq
MIRT1176599	hsa-miR-1976	CLIP-seq
MIRT1176603	hsa-miR-3145-5p	CLIP-seq
MIRT2051160	hsa-miR-3192	CLIP-seq
MIRT2051161	hsa-miR-3665	CLIP-seq
MIRT2051162	hsa-miR-3922-5p	CLIP-seq
MIRT2051163	hsa-miR-4279	CLIP-seq
MIRT2051164	hsa-miR-4293	CLIP-seq
MIRT2051165	hsa-miR-4434	CLIP-seq
MIRT2051166	hsa-miR-4457	CLIP-seq
MIRT2051167	hsa-miR-4462	CLIP-seq
MIRT2051168	hsa-miR-4492	CLIP-seq
MIRT2051169	hsa-miR-4498	CLIP-seq
MIRT2051170	hsa-miR-4505	CLIP-seq
MIRT2051171	hsa-miR-4516	CLIP-seq
MIRT1176620	hsa-miR-4645-5p	CLIP-seq
MIRT2051172	hsa-miR-4656	CLIP-seq
MIRT1176622	hsa-miR-4673	CLIP-seq
MIRT2051173	hsa-miR-4675	CLIP-seq
MIRT2051174	hsa-miR-4707-5p	CLIP-seq
MIRT1176624	hsa-miR-4712-5p	CLIP-seq
MIRT2051175	hsa-miR-4713-5p	CLIP-seq
MIRT1176625	hsa-miR-4722-3p	CLIP-seq
MIRT2051176	hsa-miR-4726-3p	CLIP-seq
MIRT2051177	hsa-miR-4741	CLIP-seq
MIRT2051178	hsa-miR-4743	CLIP-seq
MIRT1176631	hsa-miR-508-5p	CLIP-seq
MIRT2051179	hsa-miR-532-3p	CLIP-seq
MIRT1176632	hsa-miR-542-5p	CLIP-seq
MIRT2051180	hsa-miR-596	CLIP-seq
MIRT2051181	hsa-miR-657	CLIP-seq
MIRT2051182	hsa-miR-663b	CLIP-seq
MIRT2051183	hsa-miR-762	CLIP-seq
MIRT1176636	hsa-miR-770-5p	CLIP-seq
MIRT1176637	hsa-miR-939	CLIP-seq
MIRT2051154	hsa-miR-1205	CLIP-seq
MIRT2280268	hsa-miR-1262	CLIP-seq
MIRT2280269	hsa-miR-1301	CLIP-seq
MIRT2051159	hsa-miR-1909	CLIP-seq
MIRT1176598	hsa-miR-1915	CLIP-seq
MIRT2280270	hsa-miR-296-5p	CLIP-seq
MIRT2280271	hsa-miR-3154	CLIP-seq
MIRT2280272	hsa-miR-3169	CLIP-seq
MIRT2280273	hsa-miR-3179	CLIP-seq
MIRT2280274	hsa-miR-339-5p	CLIP-seq
MIRT2280275	hsa-miR-3607-3p	CLIP-seq
MIRT2280276	hsa-miR-3652	CLIP-seq
MIRT2280277	hsa-miR-3686	CLIP-seq
MIRT2280278	hsa-miR-4255	CLIP-seq
MIRT2280279	hsa-miR-4271	CLIP-seq
MIRT2280280	hsa-miR-4276	CLIP-seq
MIRT2280281	hsa-miR-4283	CLIP-seq
MIRT2280282	hsa-miR-4302	CLIP-seq
MIRT2280283	hsa-miR-4419a	CLIP-seq
MIRT2280284	hsa-miR-4430	CLIP-seq
MIRT2051165	hsa-miR-4434	CLIP-seq
MIRT2280285	hsa-miR-4436b-3p	CLIP-seq
MIRT2280286	hsa-miR-4446-3p	CLIP-seq
MIRT2280287	hsa-miR-4459	CLIP-seq
MIRT2051168	hsa-miR-4492	CLIP-seq
MIRT2051169	hsa-miR-4498	CLIP-seq
MIRT2051170	hsa-miR-4505	CLIP-seq
MIRT2280288	hsa-miR-4510	CLIP-seq
MIRT2280289	hsa-miR-4515	CLIP-seq
MIRT2051171	hsa-miR-4516	CLIP-seq
MIRT2280290	hsa-miR-4660	CLIP-seq
MIRT2280291	hsa-miR-4701-3p	CLIP-seq
MIRT2280292	hsa-miR-4721	CLIP-seq
MIRT2280293	hsa-miR-4725-3p	CLIP-seq
MIRT2280294	hsa-miR-4725-5p	CLIP-seq
MIRT2051176	hsa-miR-4726-3p	CLIP-seq
MIRT1176626	hsa-miR-4728-5p	CLIP-seq
MIRT2280295	hsa-miR-4747-5p	CLIP-seq
MIRT2280296	hsa-miR-4760-3p	CLIP-seq
MIRT2280297	hsa-miR-4779	CLIP-seq
MIRT2280298	hsa-miR-504	CLIP-seq
MIRT2280299	hsa-miR-5047	CLIP-seq
MIRT2280300	hsa-miR-516b	CLIP-seq
MIRT2280301	hsa-miR-602	CLIP-seq
MIRT2280302	hsa-miR-637	CLIP-seq
MIRT2051182	hsa-miR-663b	CLIP-seq
MIRT2280303	hsa-miR-665	CLIP-seq
MIRT2051183	hsa-miR-762	CLIP-seq
MIRT2391426	hsa-miR-154	CLIP-seq
MIRT1176597	hsa-miR-1908	CLIP-seq
MIRT2280270	hsa-miR-296-5p	CLIP-seq
MIRT2391427	hsa-miR-3132	CLIP-seq
MIRT2391428	hsa-miR-3189-3p	CLIP-seq
MIRT1176605	hsa-miR-34a	CLIP-seq
MIRT1176606	hsa-miR-34c-5p	CLIP-seq
MIRT2391429	hsa-miR-3918	CLIP-seq
MIRT1176608	hsa-miR-3960	CLIP-seq
MIRT1176617	hsa-miR-449a	CLIP-seq
MIRT1176618	hsa-miR-449b	CLIP-seq
MIRT1176619	hsa-miR-4632	CLIP-seq
MIRT2391430	hsa-miR-4695-5p	CLIP-seq
MIRT1176630	hsa-miR-486-3p	CLIP-seq
MIRT2391431	hsa-miR-521	CLIP-seq
MIRT2391432	hsa-miR-635	CLIP-seq
MIRT1176634	hsa-miR-663	CLIP-seq
MIRT1176635	hsa-miR-744	CLIP-seq
MIRT2438933	hsa-miR-125a-5p	CLIP-seq
MIRT2438934	hsa-miR-125b	CLIP-seq
MIRT2438935	hsa-miR-329	CLIP-seq
MIRT2438936	hsa-miR-362-3p	CLIP-seq
MIRT2438937	hsa-miR-3670	CLIP-seq
MIRT2438938	hsa-miR-4287	CLIP-seq
MIRT2438939	hsa-miR-4319	CLIP-seq
MIRT2438940	hsa-miR-4469	CLIP-seq
MIRT2438941	hsa-miR-4655-5p	CLIP-seq
MIRT2438942	hsa-miR-4685-3p	CLIP-seq
MIRT2438943	hsa-miR-4732-3p	CLIP-seq
MIRT2280301	hsa-miR-602	CLIP-seq
MIRT2438944	hsa-miR-670	CLIP-seq
MIRT2051154	hsa-miR-1205	CLIP-seq
MIRT2051161	hsa-miR-3665	CLIP-seq
MIRT2280285	hsa-miR-4436b-3p	CLIP-seq
MIRT2280300	hsa-miR-516b	CLIP-seq
MIRT2051181	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0005515	Function	Protein binding	IPI	17261586, 20538592, 25416956, 32814053, 32820719, 33961781, 35271311
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20538592
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	20538592
GO:0043022	Function	Ribosome binding	IDA	32820719
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	20538592
GO:0050821	Process	Protein stabilization	IMP	20538592
GO:0061635	Process	Regulation of protein complex stability	IDA	20538592
GO:0160063	Process	Multi-pass transmembrane protein insertion into ER membrane	IDA	36261522
GO:0160063	Process	Multi-pass transmembrane protein insertion into ER membrane	IEA
GO:0160064	Component	Multi-pass translocon complex	IDA	36261522
GO:0160064	Component	Multi-pass translocon complex	IEA
GO:1900108	Process	Negative regulation of nodal signaling pathway	ISS

Other IDs

• MIM: 609156
• HGNC: 26923
• e!Ensembl: ENSG00000125912

Protein

• UniProt ID: Q969V3
• Protein name: BOS complex subunit NCLN (Nicalin) (Nicastrin-like protein)
• Protein function: Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following me
• PDB: 6W6L, 9C7U, 9C7V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04389	Peptidase_M28	201 → 421	Peptidase family M28	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreas and skeletal muscle and, at lower levels, in heart. {ECO:0000269|PubMed:15257293}.
• Sequence:

  MLEEAGEVLENMLKASCLPLGFIVFLPAVLLLVAPPLPAADAAHEFTVYRMQQYDLQGQP
  YGTRNAVLNTEARTMAAEVLSRRCVLMRLLDFSYEQYQKALRQSAGAVVIILPRAMAAVP
  QDVVRQFMEIEPEMLAMETAVPVYFAVEDEALLSIYKQTQAASASQGSASAAEVLLRTAT
  ANGFQMVTSGVQSKAVSDWLIASVEGRLTGLGGEDLPTIVIVAHYDAFGVAPWLSLGADS
  NGSGVSVLLELARLFSRLYTYKRTHAAYNLLFFASGGGKFNYQGTKRWLEDNLDHTDSSL
  LQDNVAFVLCLDTVGRGSSLHLHVSKPPREGTLQHAFLRELETVAAHQFPEVRFSMVHKR
  INLAEDVLAWEHERFAIRRLPAFTLSHLESHRDGQRSSIMDVRSRVDSKTLTRNTRIIAE
  ALTRVIYNLTEKGTPPDMPVFTEQMQIQQEQLDSVMDWLTNQPRAAQLVDKDSTFLSTLE
  HHLSRYLKDVKQHHVKADKRDPEFVFYDQLKQVMNAYRVKPAVFDLLLAVGIAAYLGMAY
  VAVQHFSLLYKTVQRLLVKAKTQ

• Sequence length: 563

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hirschsprung disease, susceptibility to, 1	Likely pathogenic	rs1057519322	RCV000416337