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

Gene ID: 283897, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bone marrow (RPKM 12.2), lymph node (RPKM 8.7) and 11 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29742463..29745990, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30024601..30028756, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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