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    NHLRC4 NHL repeat containing 4 [ Homo sapiens (human) ]

    Gene ID: 283948, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NHLRC4provided by HGNC
    Official Full Name
    NHL repeat containing 4provided by HGNC
    Primary source
    HGNC:HGNC:26700
    See related
    Ensembl:ENSG00000257108 AllianceGenome:HGNC:26700
    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
    Expression
    Broad expression in kidney (RPKM 3.8), adrenal (RPKM 1.9) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NHLRC4 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (567005..569495)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (570422..572912)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (617005..619495)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene calpain 15 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:595817-595984 Neighboring gene microRNA 3176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:610518-611064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:611065-611610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:614644-615540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:616436-617331 Neighboring gene proline rich 35 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:620915-621809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6921 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Q Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:633157-633913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:633914-634669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10207 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:638709-639582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6926 Neighboring gene RAB40C, member RAS oncogene family Neighboring gene OCT4 hESC enhancer GRCh37_chr16:649581-650082 Neighboring gene uncharacterized LOC124903618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10208

    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. The sequence and analysis of duplication-rich human chromosome 16. Martin J, et al. Nature, 2004 Dec 23. PMID 15616553
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Potential readthrough

    Included gene: PIGQ

    Homology

    Clone Names

    • FLJ36208

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NHL-repeat-containing protein 4

    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_001301159.2 → NP_001288088.1  NHL-repeat-containing protein 4

      See identical proteins and their annotated locations for NP_001288088.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC032015, DA014246
      Consensus CDS
      CCDS45366.1
      UniProtKB/Swiss-Prot
      B8ZZ27, P0CG21, Q8N233, Q96AX3, Q96S23
      Related
      ENSP00000410858.2, ENST00000424439.3
      Conserved Domains (2) summary
      cd05819
      Location:4 → 49
      NHL; NHL repeat [structural motif]
      cl18310
      Location:3 → 117
      NHL; NHL repeat unit of beta-propeller proteins

    2. NM_176677.3 → NP_788850.1  NHL-repeat-containing protein 4

      See identical proteins and their annotated locations for NP_788850.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC032015, DA560515
      Consensus CDS
      CCDS45366.1
      UniProtKB/Swiss-Prot
      B8ZZ27, P0CG21, Q8N233, Q96AX3, Q96S23
      Related
      ENSP00000442223.1, ENST00000540585.1
      Conserved Domains (2) summary
      cd05819
      Location:4 → 49
      NHL; NHL repeat [structural motif]
      cl18310
      Location:3 → 117
      NHL; NHL repeat unit of beta-propeller proteins

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      567005..569495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      570422..572912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG21.1 GenPept UniProtKB/Swiss-Prot:P0CG21

    Gene LinkOut

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

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