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NALF1 NALCN channel auxiliary factor 1 [ Homo sapiens (human) ]

Gene ID: 728215, updated on 5-Mar-2024

Summary

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Official Symbol
NALF1provided by HGNC
Official Full Name
NALCN channel auxiliary factor 1provided by HGNC
Primary source
HGNC:HGNC:33877
See related
Ensembl:ENSG00000204442 MIM:619899; AllianceGenome:HGNC:33877
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
NLF1; NLF-1; FAM155A
Summary
Predicted to contribute to stretch-activated, cation-selective, calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 13.1), testis (RPKM 1.7) and 7 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
13q33.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (107163510..107867496, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (106389828..107093540, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (107815858..108519844, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:107569875-107570752 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:107638300-107638890 Neighboring gene uncharacterized LOC124903205 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:107844570-107845144 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:107911110-107912309 Neighboring gene small nucleolar RNA, C/D box 31B Neighboring gene Sharpr-MPRA regulatory region 7214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:108110377-108110878 Neighboring gene uncharacterized LOC105370353 Neighboring gene uncharacterized LOC112268110 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:108226601-108227264 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31732 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31763 Neighboring gene microRNA 1267 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31780 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31790 Neighboring gene Sharpr-MPRA regulatory region 14817 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31927 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:108422800-108423353 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31956 Neighboring gene NALF1 intronic transcript 1 Neighboring gene heparan sulfate glucosamine 3-O-sulfotransferase 4-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108520312-108520880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108527353-108527854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108527855-108528354 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32038 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:108578206-108578800 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32158 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:108751669-108751831 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:108830918-108831040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108846907-108847407 Neighboring gene Sharpr-MPRA regulatory region 13792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5495 Neighboring gene abhydrolase domain containing 13 Neighboring gene DNA ligase 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Common variation in FAM155A is associated with diverticulitis but not diverticulosis. Reichert MC, et al. Sci Rep, 2020 Feb 3. PMID 32015353, Free PMC Article
  2. Structure of the human sodium leak channel NALCN in complex with FAM155A. Xie J, et al. Nat Commun, 2020 Nov 17. PMID 33203861, Free PMC Article
  3. Structure of the human sodium leak channel NALCN. Kschonsak M, et al. Nature, 2020 Nov. PMID 32698188
  4. Methylation-mediated miR-155-FAM133A axis contributes to the attenuated invasion and migration of IDH mutant gliomas. Huang GH, et al. Cancer Lett, 2018 Sep 28. PMID 29885519
  5. Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. Sigurdsson S, et al. Nat Commun, 2017 Jun 6. PMID 28585551, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structure of the human sodium leak channel NALCN.
    Title: Structure of the human sodium leak channel NALCN.
  2. Structure of the human sodium leak channel NALCN in complex with FAM155A.
    Title: Structure of the human sodium leak channel NALCN in complex with FAM155A.
  3. Common variation in FAM155A is associated with diverticulitis but not diverticulosis.
    Title: Common variation in FAM155A is associated with diverticulitis but not diverticulosis.
  4. Low FAM155A expression is associated with glioma.
    Title: Methylation-mediated miR-155-FAM133A axis contributes to the attenuated invasion and migration of IDH mutant gliomas.
  5. FAM155A rs67153654-A association with diverticulitis in Iceland and Denmark population.
    Title: Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

EBI GWAS Catalog

Description
A genome-wide association study for reading and language abilities in two population cohorts.
EBI GWAS Catalog
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
EBI GWAS Catalog
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
EBI GWAS Catalog
Genome-wide association scan of trait depression.
EBI GWAS Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
EBI GWAS Catalog
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to stretch-activated, monoatomic cation-selective, calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
NALCN channel auxiliary factor 1
Names
family with sequence similarity 155 member A
transmembrane protein FAM155A

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.

mRNA and Protein(s)

  1. NM_001080396.3 → NP_001073865.1  NALCN channel auxiliary factor 1

    See identical proteins and their annotated locations for NP_001073865.1

    Status: VALIDATED

    Source sequence(s)
    AL136964, AL445204, AW592075, BC157855, DA779672, N69765
    Consensus CDS
    CCDS32006.1
    UniProtKB/Swiss-Prot
    B1AL88, B2RUV1, B7Z334
    Related
    ENSP00000365080.1, ENST00000375915.4
    Conserved Domains (1) summary
    pfam12929
    Location:269 → 314
    Mid1; Stretch-activated Ca2+-permeable channel component

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    107163510..107867496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    106389828..107093540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B1AL88.1 GenPept UniProtKB/Swiss-Prot:B1AL88

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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