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C14orf93 chromosome 14 open reading frame 93 [ Homo sapiens (human) ]

Gene ID: 60686, updated on 11-Jun-2021

Summary

Official Symbol
C14orf93provided by HGNC
Official Full Name
chromosome 14 open reading frame 93provided by HGNC
Primary source
HGNC:HGNC:20162
See related
Ensembl:ENSG00000100802
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
RTFC
Expression
Ubiquitous expression in skin (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

See C14orf93 in Genome Data Viewer
Location:
14q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (22985894..23010144, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23455103..23479352, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 4 Neighboring gene microRNA 4707 Neighboring gene Sharpr-MPRA regulatory region 809 Neighboring gene ajuba LIM protein Neighboring gene AJUBA divergent transcript Neighboring gene Sharpr-MPRA regulatory region 11879 Neighboring gene proteasome 20S subunit beta 5 Neighboring gene proteasome subunit beta 11

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12154

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
uncharacterized protein C14orf93
Names
regulator of thyroid function and cancer

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_001130706.3NP_001124178.1  uncharacterized protein C14orf93 isoform a precursor

    See identical proteins and their annotated locations for NP_001124178.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in in the 5' UTR, compared to variant 1. Variants 1, 2, and 4 encode the same isoform (a).
    Source sequence(s)
    AK023026, AL132780, BC014299, BX161417, DA891690
    Consensus CDS
    CCDS9583.1
    UniProtKB/Swiss-Prot
    Q9H972
    Related
    ENSP00000380535.3, ENST00000397379.7
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  2. NM_001130708.3NP_001124180.1  uncharacterized protein C14orf93 isoform a precursor

    See identical proteins and their annotated locations for NP_001124180.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in in the 5' UTR, compared to variant 1. Variants 1, 2, and 4 encode the same isoform (a).
    Source sequence(s)
    AK023026, AL132780, BC014299, DA891690
    Consensus CDS
    CCDS9583.1
    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  3. NM_001282968.2NP_001269897.1  uncharacterized protein C14orf93 isoform b

    See identical proteins and their annotated locations for NP_001269897.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (b).
    Source sequence(s)
    AL132780, BC014299, BX161507, CN309429, DA891690
    Consensus CDS
    CCDS61399.1
    UniProtKB/Swiss-Prot
    Q9H972
    UniProtKB/TrEMBL
    A0A0C4DFZ6
    Related
    ENSP00000380533.1, ENST00000397377.5
    Conserved Domains (1) summary
    pfam15394
    Location:12358
    DUF4616; Domain of unknown function (DUF4616)
  4. NM_001282969.1NP_001269898.1  uncharacterized protein C14orf93 isoform b

    See identical proteins and their annotated locations for NP_001269898.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (b).
    Source sequence(s)
    BC014299, BX161474, CN309429
    Consensus CDS
    CCDS61399.1
    UniProtKB/Swiss-Prot
    Q9H972
    UniProtKB/TrEMBL
    A0A0C4DFZ6
    Conserved Domains (1) summary
    pfam15394
    Location:12358
    DUF4616; Domain of unknown function (DUF4616)
  5. NM_001282970.2NP_001269899.1  uncharacterized protein C14orf93 isoform c

    See identical proteins and their annotated locations for NP_001269899.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate exon structure in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    BC014299, BX161383, CN309429, DA891690
    Consensus CDS
    CCDS61400.1
    UniProtKB/Swiss-Prot
    Q9H972
    Related
    ENSP00000341353.4, ENST00000341470.8
    Conserved Domains (1) summary
    pfam15394
    Location:2498
    DUF4616; Domain of unknown function (DUF4616)
  6. NM_021944.4NP_068763.2  uncharacterized protein C14orf93 isoform a precursor

    See identical proteins and their annotated locations for NP_068763.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 4 encode the same isoform (a).
    Source sequence(s)
    AK022216, AK023026, AL132780, BC014299
    Consensus CDS
    CCDS9583.1
    UniProtKB/Swiss-Prot
    Q9H972
    Related
    ENSP00000299088.6, ENST00000299088.11
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    22985894..23010144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720232.2XP_006720295.1  uncharacterized protein C14orf93 isoform X2

    See identical proteins and their annotated locations for XP_006720295.1

    UniProtKB/Swiss-Prot
    Q9H972
    UniProtKB/TrEMBL
    A0A0C4DFZ6
    Conserved Domains (1) summary
    pfam15394
    Location:12358
    DUF4616; Domain of unknown function (DUF4616)
  2. XM_024449685.1XP_024305453.1  uncharacterized protein C14orf93 isoform X1

    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  3. XM_005267971.1XP_005268028.1  uncharacterized protein C14orf93 isoform X1

    See identical proteins and their annotated locations for XP_005268028.1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  4. XM_006720231.1XP_006720294.1  uncharacterized protein C14orf93 isoform X2

    See identical proteins and their annotated locations for XP_006720294.1

    UniProtKB/Swiss-Prot
    Q9H972
    UniProtKB/TrEMBL
    A0A0C4DFZ6
    Conserved Domains (1) summary
    pfam15394
    Location:12358
    DUF4616; Domain of unknown function (DUF4616)
  5. XM_005267972.2XP_005268029.1  uncharacterized protein C14orf93 isoform X1

    See identical proteins and their annotated locations for XP_005268029.1

    UniProtKB/Swiss-Prot
    Q9H972
    Related
    ENSP00000380538.4, ENST00000397382.8
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  6. XM_011537059.1XP_011535361.1  uncharacterized protein C14orf93 isoform X1

    See identical proteins and their annotated locations for XP_011535361.1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  7. XM_017021576.1XP_016877065.1  uncharacterized protein C14orf93 isoform X2

    UniProtKB/Swiss-Prot
    Q9H972
    UniProtKB/TrEMBL
    A0A0C4DFZ6
    Conserved Domains (1) summary
    pfam15394
    Location:12358
    DUF4616; Domain of unknown function (DUF4616)
  8. XM_017021573.1XP_016877062.1  uncharacterized protein C14orf93 isoform X1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  9. XM_011537062.2XP_011535364.1  uncharacterized protein C14orf93 isoform X1

    See identical proteins and their annotated locations for XP_011535364.1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  10. XM_011537060.3XP_011535362.1  uncharacterized protein C14orf93 isoform X1

    See identical proteins and their annotated locations for XP_011535362.1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  11. XM_017021572.2XP_016877061.1  uncharacterized protein C14orf93 isoform X1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  12. XM_017021570.2XP_016877059.1  uncharacterized protein C14orf93 isoform X1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  13. XM_017021574.2XP_016877063.1  uncharacterized protein C14orf93 isoform X1

    UniProtKB/Swiss-Prot
    Q9H972
    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
  14. XM_017021575.2XP_016877064.1  uncharacterized protein C14orf93 isoform X2

    UniProtKB/Swiss-Prot
    Q9H972
    UniProtKB/TrEMBL
    A0A0C4DFZ6
    Conserved Domains (1) summary
    pfam15394
    Location:12358
    DUF4616; Domain of unknown function (DUF4616)
  15. XM_024449687.1XP_024305455.1  uncharacterized protein C14orf93 isoform X1

    Conserved Domains (1) summary
    pfam15394
    Location:2538
    DUF4616; Domain of unknown function (DUF4616)
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