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

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough RNASEK-C17orf49

Readthrough gene: RNASEK-C17orf49, Included gene: RNASEK

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)

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
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
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