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    C16orf54 chromosome 16 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 283897, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C16orf54provided by HGNC
    Official Full Name
    chromosome 16 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:26649
    See related
    Ensembl:ENSG00000185905 AllianceGenome:HGNC:26649
    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
    SAIL
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bone marrow (RPKM 12.2), lymph node (RPKM 8.7) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C16orf54 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29742463..29745990, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30024601..30028756, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29753784..29757311, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29690545-29691046 Neighboring gene quinolinate phosphoribosyltransferase Neighboring gene Sharpr-MPRA regulatory region 8247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29706317-29706848 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:29710774-29710948 Neighboring gene CRISPRi-validated cis-regulatory element chr16.2261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7331 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29720469-29721050 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29721051-29721632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29723379-29723960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29731775-29732277 Neighboring gene RN7SK pseudogene 127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10669 Neighboring gene uncharacterized LOC124903673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10673 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:29774929-29775066 Neighboring gene Sharpr-MPRA regulatory region 10200 Neighboring gene Sharpr-MPRA regulatory region 1439 Neighboring gene uncharacterized LOC124903675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10674 Neighboring gene uncharacterized LOC105371167 Neighboring gene zymogen granule protein 16

    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. Integrated Analysis of C16orf54 as a Potential Prognostic, Diagnostic, and Immune Marker across Pan-Cancer. Du X, et al. Dis Markers, 2022. PMID 36118669, Free PMC Article
    2. A novel antibody-drug conjugate targeting SAIL for the treatment of hematologic malignancies. Kim SY, et al. Blood Cancer J, 2015 May 29. PMID 26024286, Free PMC Article
    3. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Loftus BJ, et al. Genomics, 1999 Sep 15. PMID 10493829
    4. Cell Surface Proteomic Map of HIV Infection Reveals Antagonism of Amino Acid Metabolism by Vpu and Nef. Matheson NJ, et al. Cell Host Microbe, 2015 Oct 14. PMID 26439863, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrated Analysis of C16orf54 as a Potential Prognostic, Diagnostic, and Immune Marker across Pan-Cancer.
      Title: Integrated Analysis of C16orf54 as a Potential Prognostic, Diagnostic, and Immune Marker across Pan-Cancer.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of C16orf54 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35681, MGC129957, MGC129958

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein C16orf54
    Names
    Surface Antigen In Leukemia

    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_175900.4 → NP_787096.2  transmembrane protein C16orf54

      See identical proteins and their annotated locations for NP_787096.2

      Status: VALIDATED

      Source sequence(s)
      AC009133, BC025741, BC104466, DA427069
      Consensus CDS
      CCDS10652.1
      UniProtKB/Swiss-Prot
      A6NJR6, Q6UWD8, Q8NAB0
      Related
      ENSP00000327506.3, ENST00000329410.4
      Conserved Domains (1) summary
      pfam15755
      Location:1 → 223
      DUF4689; Domain of unknown function (DUF4689)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      29742463..29745990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433978.1 → XP_047289934.1  transmembrane protein C16orf54 isoform X2

    2. XM_047433979.1 → XP_047289935.1  transmembrane protein C16orf54 isoform X3

    3. XM_047433977.1 → XP_047289933.1  transmembrane protein C16orf54 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30024601..30028756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380128.1 → XP_054236103.1  transmembrane protein C16orf54 isoform X2

    2. XM_054380129.1 → XP_054236104.1  transmembrane protein C16orf54 isoform X3

    3. XM_054380127.1 → XP_054236102.1  transmembrane protein C16orf54 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWD8.1 GenPept UniProtKB/Swiss-Prot:Q6UWD8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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