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

    Gene ID: 728215, updated on 10-Dec-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, monoatomic cation-selective, calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    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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    See NALF1 in Genome Data Viewer
    Location:
    13q33.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (107163510..107867496, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (106389828..107093540, complement)
    RS_2024_09 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)

    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_2024_08

    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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