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

Gene ID: 283948, updated on 8-Dec-2022

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
Summary
Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein K48-linked ubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 3.8), adrenal (RPKM 1.9) and 19 other tissues See more
Orthologs
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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
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (567005..569495)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (570422..572912)
105.20220307 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 microRNA 3176 Neighboring gene proline rich 35 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Q Neighboring gene RAB40C, member RAS oncogene family Neighboring gene uncharacterized LOC124903618

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

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

Genotypes

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
    P0CG21, 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
    P0CG21, 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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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