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ANKRD49 ankyrin repeat domain 49 [ Homo sapiens (human) ]

Gene ID: 54851, updated on 5-Mar-2024

Summary

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Official Symbol
ANKRD49provided by HGNC
Official Full Name
ankyrin repeat domain 49provided by HGNC
Primary source
HGNC:HGNC:25970
See related
Ensembl:ENSG00000168876 MIM:619571; AllianceGenome:HGNC:25970
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
FGIF; GBIF
Summary
Involved in positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 11.3), bone marrow (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

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See ANKRD49 in Genome Data Viewer
Location:
11q21
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94493984..94499578)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94501024..94506618)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94227150..94232744)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:94113450-94113647 Neighboring gene G protein-coupled receptor 83 Neighboring gene MRE11 homolog, double strand break repair nuclease Neighboring gene microRNA 548l Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94245285-94245803 Neighboring gene chromosome 11 open reading frame 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94278664-94279338 Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene fucosyltransferase 4

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. High expression of the ANKRD49 protein is associated with progression and poor prognosis of gastric cancer. Liu CG, et al. Cancer Biomark, 2018. PMID 29865034
  2. Up-regulation of ANKDR49, a poor prognostic factor, regulates cell proliferation of gliomas. Hao C, et al. Biosci Rep, 2017 Aug 31. PMID 28694302, Free PMC Article
  3. ANKRD49 inhibits etoposide-induced intrinsic apoptosis of GC-1 cells by modulating NF-κB signaling. Zhou X, et al. Mol Cell Biochem, 2019 Jul. PMID 30798416
  4. {gamma}-Globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice. Blau CA, et al. J Biol Chem, 2005 Nov 4. PMID 16131492
  5. hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. Pitts SA, et al. Hum Mol Genet, 2001 May 15. PMID 11371508

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. these results suggest that ANKRD49 plays an important role in reducing intrinsic apoptosis of GC-1 cells by modulating the NF-kappaB signaling pathway.
    Title: ANKRD49 inhibits etoposide-induced intrinsic apoptosis of GC-1 cells by modulating NF-κB signaling.
  2. The results of the present study highlighted an important role of the ANKRD49 protein in the progression of gastric cancer. The ANKRD49 protein could act as a potential biomarker for prognosis evaluation of gastric cancer and may be used as a molecular target for gastric cancer treatment.
    Title: High expression of the ANKRD49 protein is associated with progression and poor prognosis of gastric cancer.
  3. The research findings implicate that ANKRD49 promotes the proliferation of human malignant glioma cells.
    Title: Up-regulation of ANKDR49, a poor prognostic factor, regulates cell proliferation of gliomas.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
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

Homology

Clone Names

  • FLJ20189, FLJ20441

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleus IC
Inferred by Curator
more info
 PubMed 

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 49
Names
fetal globin-inducing factor

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_017704.3 → NP_060174.2  ankyrin repeat domain-containing protein 49

    See identical proteins and their annotated locations for NP_060174.2

    Status: VALIDATED

    Source sequence(s)
    AK057696, AL833977, AP000786, BC017798, BG025192
    Consensus CDS
    CCDS8300.1
    UniProtKB/Swiss-Prot
    Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
    Related
    ENSP00000440396.1, ENST00000544612.6
    Conserved Domains (3) summary
    sd00045
    Location:78 → 105
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:112 → 197
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:75 → 128
    Ank_4; Ankyrin repeats (many copies)

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    94493984..94499578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017941.2 → XP_016873430.1  ankyrin repeat domain-containing protein 49 isoform X1

    UniProtKB/Swiss-Prot
    Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
    Conserved Domains (3) summary
    sd00045
    Location:78 → 105
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:112 → 197
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:75 → 128
    Ank_4; Ankyrin repeats (many copies)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    94501024..94506618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369216.1 → XP_054225191.1  ankyrin repeat domain-containing protein 49 isoform X1

    UniProtKB/Swiss-Prot
    Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVL7.1 GenPept UniProtKB/Swiss-Prot:Q8WVL7

Gene LinkOut

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