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

Gene ID: 400258, updated on 7-Apr-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 integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
14q32.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104579764..104590515)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98822545..98833296)
105.20220307 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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. 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
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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)

Genotypes

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_2023_10

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
    J3KNP8

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

    UniProtKB/TrEMBL
    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
    J3KNP8

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

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

Gene LinkOut

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