NKAPL NFKB activating protein like [Homo sapiens (human)] - Gene

Summary

Official Symbol: NKAPLprovided by HGNC
Official Full Name: NFKB activating protein likeprovided by HGNC
Primary source: HGNC:HGNC:21584
See related: Ensembl:ENSG00000189134 AllianceGenome:HGNC:21584
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: C6orf194; bA424I5.1
Summary: Predicted to enable chromatin binding activity. Predicted to be involved in regulation of gene expression. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 6p22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (28259297..28260958)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (28131026..28132687)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (28227075..28228736)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.
Title: Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.
Single nucleotide polymorphism in NKAPL is associated with atherosclerosis.
Title: Association between NF-κB Pathway Gene Variants and sICAM1 Levels in Taiwanese.
Overexpression of NKAPL in germline stem cells demonstrated that Nkapl induced changes in spermatogonial stem cell (SSC) markers and the reduction of differentiation factors through the Notch signaling pathway.
Title: A novel transcriptional factor Nkapl is a germ cell-specific suppressor of Notch signaling and is indispensable for spermatogenesis.
further evidence for the involvement of NKAPL polymorphisms in the development of schizophrenia.
Title: Further evidence supporting the association of NKAPL with schizophrenia.
Study suggested that rs1635 in the NKAPL gene appeared to play a role in conferring susceptibility to schizophrenia
Title: Resequencing and association study of the NFKB activating protein-like gene (NKAPL) in schizophrenia.
Fine-mapping analyses identified six NKAPL locus variants in a single haplotype block showing association with rheumatoid arthritis.
Title: Identification of the NF-κB activating protein-like locus as a risk locus for rheumatoid arthritis.

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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

EBI GWAS Catalog

Description
Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

NoName (e-PCR)
- UniSTS:485379

WI-15159 (e-PCR)
- UniSTS:77194

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: NKAP-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.