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C4orf48 chromosome 4 open reading frame 48 [ Homo sapiens (human) ]

Gene ID: 401115, updated on 23-Nov-2021

Summary

Official Symbol
C4orf48provided by HGNC
Official Full Name
chromosome 4 open reading frame 48provided by HGNC
Primary source
HGNC:HGNC:34437
See related
Ensembl:ENSG00000243449 MIM:614690
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
CHR4_55
Expression
Biased expression in colon (RPKM 2.0), small intestine (RPKM 1.6) and 10 other tissues See more
Orthologs
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Genomic context

See C4orf48 in Genome Data Viewer
Location:
4p16.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (2035610..2043970)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2043720..2045697)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 2 Neighboring gene small Cajal body-specific RNA 22 Neighboring gene microRNA 943 Neighboring gene negative elongation factor complex member A Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene N-acetyltransferase 8 like Neighboring gene DNA polymerase nu

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
neuropeptide-like protein C4orf48

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_001141936.3NP_001135408.3  neuropeptide-like protein C4orf48 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AL132868
    Consensus CDS
    CCDS47000.2
    Related
    ENSP00000386528.1, ENST00000409860.1
    Conserved Domains (1) summary
    pfam15161
    Location:3493
    Neuropep_like; Neuropeptide-like
  2. NM_001168243.4NP_001161715.3  neuropeptide-like protein C4orf48 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL132868
    Consensus CDS
    CCDS54707.1
    Conserved Domains (1) summary
    pfam15161
    Location:3493
    Neuropep_like; Neuropeptide-like

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    2035610..2043970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513471.2XP_011511773.1  neuropeptide-like protein C4orf48 isoform X2

    See identical proteins and their annotated locations for XP_011511773.1

  2. XM_011513469.3XP_011511771.1  neuropeptide-like protein C4orf48 isoform X1

    Conserved Domains (1) summary
    pfam15161
    Location:90149
    Neuropep_like; Neuropeptide-like
  3. XM_017008190.1XP_016863679.1  neuropeptide-like protein C4orf48 isoform X3

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