NCLN nicalin [Homo sapiens (human)] - Gene

Summary

Official Symbol: NCLNprovided by HGNC
Official Full Name: nicalinprovided by HGNC
Primary source: HGNC:HGNC:26923
See related: Ensembl:ENSG00000125912 MIM:609156; AllianceGenome:HGNC:26923
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NET59
Summary: Enables ribosome binding activity. Involved in several processes, including multi-pass transmembrane protein insertion into ER membrane; protein stabilization; and regulation of protein complex stability. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in colon (RPKM 14.1), duodenum (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3185930..3209575)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3160750..3184441)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3185928..3209573)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of the soluble EphA7-interacting protein Nicalin as a regulator of EphA7 expression.
Title: Identification of the soluble EphA7-interacting protein Nicalin as a regulator of EphA7 expression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54129 (e-PCR)
- UniSTS:109366

A009G37 (e-PCR)
- UniSTS:28491

A002R35 (e-PCR)
- UniSTS:73568

RH18190 (e-PCR)
- UniSTS:58013

WI-15783 (e-PCR)
- UniSTS:66996

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in determination of left/right asymmetry in lateral mesoderm	ISS Inferred from Sequence or Structural Similarity more info
involved_in multi-pass transmembrane protein insertion into ER membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of nodal signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein complex stability	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
part_of multi-pass translocon complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BOS complex subunit NCLN

Names: nicalin homolog; nicastrin-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.