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

Gene ID: 54851, updated on 19-Sep-2024

Summary

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

See ANKRD49 in Genome Data Viewer
Location:
11q21
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94493984..94499578)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94501024..94506618)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_017704.3NP_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:78105
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:112197
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:75128
    Ank_4; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_017017941.2XP_016873430.1  ankyrin repeat domain-containing protein 49 isoform X1

    UniProtKB/Swiss-Prot
    Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
    Conserved Domains (3) summary
    sd00045
    Location:78105
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:112197
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:75128
    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_054369216.1XP_054225191.1  ankyrin repeat domain-containing protein 49 isoform X1

    UniProtKB/Swiss-Prot
    Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7