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C1orf54 chromosome 1 open reading frame 54 [ Homo sapiens (human) ]

Gene ID: 79630, updated on 20-Jul-2018

Summary

Official Symbol
C1orf54provided by HGNC
Official Full Name
chromosome 1 open reading frame 54provided by HGNC
Primary source
HGNC:HGNC:26258
See related
Ensembl:ENSG00000118292 Vega:OTTHUMG00000012546
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
Ubiquitous expression in spleen (RPKM 18.0), lymph node (RPKM 10.9) and 23 other tissues See more
Orthologs

Genomic context

See C1orf54 in Genome Data Viewer
Location:
1q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (150270317..150280927)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150244687..150253335)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U2 small nuclear 17, pseudogene Neighboring gene carbonic anhydrase 14 Neighboring gene small nucleolar RNA, C/D box 13C Neighboring gene aph-1 homolog A, gamma-secretase subunit Neighboring gene circadian associated repressor of transcription Neighboring gene uncharacterized LOC105371434

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Homology

Clone Names

  • FLJ23221

Gene Ontology Provided by GOA

Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
uncharacterized protein C1orf54

NCBI Reference Sequences (RefSeq)

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_001301039.1NP_001287968.1  uncharacterized protein C1orf54 isoform a precursor

    See identical proteins and their annotated locations for NP_001287968.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC242988
    Conserved Domains (1) summary
    pfam15465
    Location:1130
    DUF4634; Domain of unknown function (DUF4634)
  2. NM_001301040.1NP_001287969.1  uncharacterized protein C1orf54 isoform b precursor

    See identical proteins and their annotated locations for NP_001287969.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AC242988
    Consensus CDS
    CCDS948.1
    UniProtKB/Swiss-Prot
    Q8WWF1
    Related
    ENSP00000358098.1, OTTHUMP00000014532, ENST00000369102.5, OTTHUMT00000035055
    Conserved Domains (1) summary
    pfam15465
    Location:1129
    DUF4634; Domain of unknown function (DUF4634)
  3. NM_001301041.1NP_001287970.1  uncharacterized protein C1orf54 isoform c

    See identical proteins and their annotated locations for NP_001287970.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AI004135, DA358536, W93038
    Conserved Domains (1) summary
    pfam15465
    Location:1102
    DUF4634; Domain of unknown function (DUF4634)
  4. NM_001301042.1NP_001287971.1  uncharacterized protein C1orf54 isoform d precursor

    See identical proteins and their annotated locations for NP_001287971.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AA095731, AI004135, AI342055, T82829
    Consensus CDS
    CCDS72905.1
    UniProtKB/TrEMBL
    Q5TB16
    Related
    ENSP00000358094.3, OTTHUMP00000014531, ENST00000369098.3, OTTHUMT00000035054
    Conserved Domains (1) summary
    pfam15465
    Location:1100
    DUF4634; Domain of unknown function (DUF4634)
  5. NM_024579.3NP_078855.2  uncharacterized protein C1orf54 isoform b precursor

    See identical proteins and their annotated locations for NP_078855.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AI004135, AI342055, AK026874, BC017761
    Consensus CDS
    CCDS948.1
    UniProtKB/Swiss-Prot
    Q8WWF1
    Related
    ENSP00000358095.3, OTTHUMP00000014530, ENST00000369099.7, OTTHUMT00000035053
    Conserved Domains (1) summary
    pfam15465
    Location:1129
    DUF4634; Domain of unknown function (DUF4634)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    150270317..150280927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449802.1XP_024305570.1  uncharacterized protein C1orf54 isoform X2

    Conserved Domains (1) summary
    pfam15465
    Location:1129
    DUF4634; Domain of unknown function (DUF4634)
  2. XM_011509984.3XP_011508286.1  uncharacterized protein C1orf54 isoform X3

    See identical proteins and their annotated locations for XP_011508286.1

    Conserved Domains (1) summary
    pfam15465
    Location:1102
    DUF4634; Domain of unknown function (DUF4634)
  3. XM_024449801.1XP_024305569.1  uncharacterized protein C1orf54 isoform X1

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