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C7orf57 chromosome 7 open reading frame 57 [ Homo sapiens (human) ]

Gene ID: 136288, updated on 23-Nov-2021

Summary

Official Symbol
C7orf57provided by HGNC
Official Full Name
chromosome 7 open reading frame 57provided by HGNC
Primary source
HGNC:HGNC:22247
See related
Ensembl:ENSG00000164746
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
Biased expression in testis (RPKM 2.2), lung (RPKM 1.7) and 2 other tissues See more
Orthologs
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Genomic context

See C7orf57 in Genome Data Viewer
Location:
7p12.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (48035522..48061297)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48075140..48100894)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene HUS1 checkpoint clamp component Neighboring gene uncharacterized LOC105375270 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene uridine phosphorylase 1 Neighboring gene uncharacterized LOC105375271

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

General protein information

Preferred Names
uncharacterized protein C7orf57

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_001100159.3NP_001093629.1  uncharacterized protein C7orf57 isoform 1

    See identical proteins and their annotated locations for NP_001093629.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC069279, BC031107, BC045737
    Consensus CDS
    CCDS47583.1
    UniProtKB/Swiss-Prot
    Q8NEG2
    UniProtKB/TrEMBL
    Q86XB5
    Related
    ENSP00000335500.3, ENST00000348904.4
    Conserved Domains (1) summary
    pfam14825
    Location:189237
    DUF4483; Domain of unknown function (DUF4483)
  2. NM_001267865.2NP_001254794.1  uncharacterized protein C7orf57 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) 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 (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC069279, BC045737, BI560654
    Consensus CDS
    CCDS75594.1
    UniProtKB/TrEMBL
    F5H7J8, Q86XB5
    Related
    ENSP00000442474.2, ENST00000539619.5
  3. NM_001267866.2NP_001254795.1  uncharacterized protein C7orf57 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream, in-frame start codon, and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC069279, BC045737
    Consensus CDS
    CCDS59054.1
    UniProtKB/TrEMBL
    Q86XB5
    Related
    ENSP00000391652.1, ENST00000435376.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    48035522..48061297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446653.1XP_024302421.1  uncharacterized protein C7orf57 isoform X2

    Conserved Domains (1) summary
    pfam14825
    Location:189237
    DUF4483; Domain of unknown function (DUF4483)
  2. XM_011515121.2XP_011513423.1  uncharacterized protein C7orf57 isoform X1

    See identical proteins and their annotated locations for XP_011513423.1

    UniProtKB/Swiss-Prot
    Q8NEG2
    Related
    ENSP00000410944.1, ENST00000430738.5
    Conserved Domains (1) summary
    pfam14825
    Location:189237
    DUF4483; Domain of unknown function (DUF4483)
  3. XM_006715650.3XP_006715713.1  uncharacterized protein C7orf57 isoform X5

    Conserved Domains (1) summary
    pfam14825
    Location:67115
    DUF4483; Domain of unknown function (DUF4483)
  4. XM_006715649.4XP_006715712.1  uncharacterized protein C7orf57 isoform X2

    Conserved Domains (1) summary
    pfam14825
    Location:189237
    DUF4483; Domain of unknown function (DUF4483)
  5. XM_011515122.3XP_011513424.1  uncharacterized protein C7orf57 isoform X3

  6. XM_011515123.3XP_011513425.1  uncharacterized protein C7orf57 isoform X4

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