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

Gene ID: 124944, updated on 7-Oct-2018

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; Vega:OTTHUMG00000170147
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
Expression
Ubiquitous expression in bone marrow (RPKM 37.2), lymph node (RPKM 34.4) and 25 other tissues See more
Orthologs

Genomic context

See C17orf49 in Genome Data Viewer
Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7014737..7017524)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6918056..6920843)

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 ribonuclease K Neighboring gene mir-497-195 cluster host gene Neighboring gene microRNA 195 Neighboring gene microRNA 497

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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough RNASEK-C17orf49

Readthrough gene: RNASEK-C17orf49, Included gene: RNASEK

Homology

Clone Names

  • MGC49942

Gene Ontology Provided by GOA

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

General protein information

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)

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_001142798.2NP_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/Swiss-Prot
    Q8IXM2
    Related
    ENSP00000448598.1, OTTHUMP00000243067, ENST00000546495.5, OTTHUMT00000407662
    Conserved Domains (2) summary
    smart00717
    Location:4177
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd00167
    Location:4177
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
  2. NM_001142799.2NP_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, BU596784, CN280697
    Consensus CDS
    CCDS45596.1
    UniProtKB/Swiss-Prot
    Q8IXM2
    Related
    ENSP00000448746.1, OTTHUMP00000243069, ENST00000552402.5, OTTHUMT00000407665
  3. NM_174893.3NP_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)
    AI183273, BC040036, BM011108, BU596784
    Consensus CDS
    CCDS32542.1
    UniProtKB/Swiss-Prot
    Q8IXM2
    Related
    ENSP00000411851.2, OTTHUMP00000243070, ENST00000439424.6, OTTHUMT00000407666
    Conserved Domains (1) summary
    cd00167
    Location:4177
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    7014737..7017524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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