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C17orf49 chromosome 17 open reading frame 49 [ Homo sapiens (human) ]

Gene ID: 124944, updated on 5-Mar-2024

Summary

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Official Symbol
C17orf49provided by HGNC
Official Full Name
chromosome 17 open reading frame 49provided by HGNC
Primary source
HGNC:HGNC:28737
See related
Ensembl:ENSG00000258315 MIM:617215; AllianceGenome:HGNC:28737
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
BAP18; HEPIS
Summary
Enables identical protein binding activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. Part of MLL1 complex and NURF complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 37.2), lymph node (RPKM 34.4) and 25 other tissues See more
Orthologs
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Genomic context

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See C17orf49 in Genome Data Viewer
Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7014782..7017520)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6915382..6918120)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6918101..6920839)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ALOX12 antisense RNA 1 Neighboring gene arachidonate 12-lipoxygenase, 12S type Neighboring gene RNASEK-C17orf49 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6915304-6915924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11593 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6917563-6918063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6918414-6918914 Neighboring gene ribonuclease K Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:6919327-6920526 Neighboring gene mir-497-195 cluster host gene Neighboring gene microRNA 195 Neighboring gene microRNA 497

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. An H3K4me3 reader, BAP18 as an adaptor of COMPASS-like core subunits co-activates ERα action and associates with the sensitivity of antiestrogen in breast cancer. Sun G, et al. Nucleic Acids Res, 2020 Nov 4. PMID 32986841, Free PMC Article
  2. BAP18 facilitates CTCF-mediated chromatin accessible to regulate enhancer activity in breast cancer. Sun G, et al. Cell Death Differ, 2023 May. PMID 36828916,
  3. BAP18 induces growth of non-small-cell lung carcinoma through upregulating transcriptional level of CCND1/2. Wei SJ, et al. Eur Rev Med Pharmacol Sci, 2022 May. PMID 35587057
  4. BAP18 is involved in upregulation of CCND1/2 transcription to promote cell growth in oral squamous cell carcinoma. Wang X, et al. EBioMedicine, 2020 Mar. PMID 32113162, Free PMC Article
  5. BAP18 coactivates androgen receptor action and promotes prostate cancer progression. Sun S, et al. Nucleic Acids Res, 2016 Sep 30. PMID 27226492, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BAP18 acting as a novel peroxisome proliferator-activated receptor alpha co-regulator contributes to hepatocellular carcinoma progression.
    Title: BAP18 acting as a novel peroxisome proliferator-activated receptor α co-regulator contributes to hepatocellular carcinoma progression.
  2. BAP18 facilitates CTCF-mediated chromatin accessible to regulate enhancer activity in breast cancer.
    Title: BAP18 facilitates CTCF-mediated chromatin accessible to regulate enhancer activity in breast cancer.
  3. BAP18 induces growth of non-small-cell lung carcinoma through upregulating transcriptional level of CCND1/2.
    Title: BAP18 induces growth of non-small-cell lung carcinoma through upregulating transcriptional level of CCND1/2.
  4. BAP18 is involved in upregulation of CCND1/2 transcription to promote cell growth in oral squamous cell carcinoma.
    Title: BAP18 is involved in upregulation of CCND1/2 transcription to promote cell growth in oral squamous cell carcinoma.
  5. An H3K4me3 reader, BAP18 as an adaptor of COMPASS-like core subunits co-activates ERalpha action and associates with the sensitivity of antiestrogen in breast cancer.
    Title: An H3K4me3 reader, BAP18 as an adaptor of COMPASS-like core subunits co-activates ERα action and associates with the sensitivity of antiestrogen in breast cancer.
  6. BAP18 as an epigenetic modifier regulates AR-induced transactivation and the function of BAP18 might be targeted in human prostate cancer to promote tumor growth and progression to castration-resistance.
    Title: BAP18 coactivates androgen receptor action and promotes prostate cancer progression.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough RNASEK-C17orf49

Readthrough gene: RNASEK-C17orf49, Included gene: RNASEK

Homology

Clone Names

  • MGC49942

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of MLL1 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of MLL1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of NURF complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of NURF complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
chromatin complexes subunit BAP18
Names
BPTF-associated protein of 18 kDa
MLL1/MLL complex subunit C17orf49
human embryo lung cellular protein interacting with SARS-CoV nsp-10

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_001142798.3 → NP_001136270.1  chromatin complexes subunit BAP18 isoform 1

    See identical proteins and their annotated locations for NP_001136270.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BM011108, BU596784, CA449884
    Consensus CDS
    CCDS45595.1
    UniProtKB/TrEMBL
    F8W1H0
    Related
    ENSP00000448598.1, ENST00000546495.5
    Conserved Domains (1) summary
    pfam00249
    Location:41 → 77
    Myb_DNA-binding; Myb-like DNA-binding domain

  2. NM_001142799.3 → NP_001136271.1  chromatin complexes subunit BAP18 isoform 3

    See identical proteins and their annotated locations for NP_001136271.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI183273, CN280697
    Consensus CDS
    CCDS45596.1
    UniProtKB/Swiss-Prot
    Q8IXM2
    Related
    ENSP00000448746.1, ENST00000552402.5

  3. NM_174893.4 → NP_777553.1  chromatin complexes subunit BAP18 isoform 2

    See identical proteins and their annotated locations for NP_777553.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    BC040036, BM011108
    Consensus CDS
    CCDS32542.1
    UniProtKB/Swiss-Prot
    B4DIV3, C9J4G0, E9PB29, Q8IXM2
    UniProtKB/TrEMBL
    F8W1H0
    Related
    ENSP00000411851.2, ENST00000439424.6
    Conserved Domains (1) summary
    pfam00249
    Location:41 → 77
    Myb_DNA-binding; Myb-like DNA-binding domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7014782..7017520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    6915382..6918120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IXM2.1 GenPept UniProtKB/Swiss-Prot:Q8IXM2

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
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