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    C14orf180 chromosome 14 open reading frame 180 [ Homo sapiens (human) ]

    Gene ID: 400258, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C14orf180provided by HGNC
    Official Full Name
    chromosome 14 open reading frame 180provided by HGNC
    Primary source
    HGNC:HGNC:33795
    See related
    Ensembl:ENSG00000184601 MIM:619392; AllianceGenome:HGNC:33795
    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
    NRAC; C14orf77
    Summary
    Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in fat (RPKM 41.1) and heart (RPKM 22.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See C14orf180 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104579764..104590515)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98822545..98833296)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105046101..105056852)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cell cycle exit and neuronal differentiation 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104937569-104938069 Neighboring gene uncharacterized LOC124903395 Neighboring gene MPRA-validated peak2256 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105029496-105030057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105030714-105031460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105031461-105032205 Neighboring gene MPRA-validated peak2258 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105053553-105054112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105054113-105054670 Neighboring gene transmembrane protein 179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6187 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:105119263-105119764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105122182-105122682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105122683-105123183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105125610-105126204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105126205-105126799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105128863-105129362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105131825-105132587 Neighboring gene long intergenic non-protein coding RNA 2280

    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. Nrac, a novel nutritionally-regulated adipose and cardiac-enriched gene. Zhang R, et al. PLoS One, 2012. PMID 23029450, Free PMC Article
    2. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, 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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nrac is a nutritionally-regulated adipose and cardiac-enriched gene.
      Title: Nrac, a novel nutritionally-regulated adipose and cardiac-enriched gene.
    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

    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

    Clone Names

    • FLJ38594

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nutritionally-regulated adipose and cardiac enriched protein homolog
    Names
    transmembrane protein C14orf180

    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_001008404.3 → NP_001008404.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform b

      See identical proteins and their annotated locations for NP_001008404.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK095913, AW451284, BX161457, BX927359
      Consensus CDS
      CCDS32166.1
      UniProtKB/Swiss-Prot
      Q8N912
      Related
      ENSP00000452502.1, ENST00000557649.6
      Conserved Domains (1) summary
      pfam15555
      Location:33 → 155
      DUF4658; Domain of unknown function (DUF4658)

    2. NM_001286399.2 → NP_001273328.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform a

      See identical proteins and their annotated locations for NP_001273328.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK297818, AW451284, BX161457
      Consensus CDS
      CCDS66722.1
      UniProtKB/TrEMBL
      B4DN93, J3KNP8
      Related
      ENSP00000333041.2, ENST00000331952.6
      Conserved Domains (1) summary
      cl20010
      Location:33 → 108
      Consortin_C; Consortin C-terminus

    3. NM_001286400.2 → NP_001273329.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform b

      See identical proteins and their annotated locations for NP_001273329.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AW451284, BX161457, BX927359
      Consensus CDS
      CCDS32166.1
      UniProtKB/Swiss-Prot
      Q8N912
      Related
      ENSP00000386487.1, ENST00000410013.1
      Conserved Domains (1) summary
      pfam15555
      Location:33 → 155
      DUF4658; Domain of unknown function (DUF4658)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      104579764..104590515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267638.4 → XP_005267695.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform X1

      See identical proteins and their annotated locations for XP_005267695.1

      UniProtKB/TrEMBL
      B4DN93, J3KNP8
      Conserved Domains (1) summary
      cl20010
      Location:33 → 108
      Consortin_C; Consortin C-terminus

    2. XM_011536764.3 → XP_011535066.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform X1

      See identical proteins and their annotated locations for XP_011535066.1

      UniProtKB/TrEMBL
      B4DN93, J3KNP8
      Conserved Domains (1) summary
      cl20010
      Location:33 → 108
      Consortin_C; Consortin C-terminus

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187599.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      137587..148338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328953.1 → XP_054184928.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform X1

      UniProtKB/TrEMBL
      B4DN93, J3KNP8

    2. XM_054328952.1 → XP_054184927.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform X1

      UniProtKB/TrEMBL
      B4DN93, J3KNP8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      98822545..98833296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376051.1 → XP_054232026.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform X1

      UniProtKB/TrEMBL
      B4DN93, J3KNP8

    2. XM_054376050.1 → XP_054232025.1  nutritionally-regulated adipose and cardiac enriched protein homolog isoform X1

      UniProtKB/TrEMBL
      B4DN93, J3KNP8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N912.1 GenPept UniProtKB/Swiss-Prot:Q8N912

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