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    RFXANK regulatory factor X associated ankyrin containing protein [ Homo sapiens (human) ]

    Gene ID: 8625, updated on 9-Jul-2021

    Summary

    Official Symbol
    RFXANKprovided by HGNC
    Official Full Name
    regulatory factor X associated ankyrin containing proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9987
    See related
    Ensembl:ENSG00000064490 MIM:603200
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BLS; RFX-B; ANKRA1; F14150_1
    Summary
    Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.0), bone marrow (RPKM 11.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RFXANK in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19192258..19201869)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19303067..19312675)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene BORCS8-MEF2B readthrough Neighboring gene myocyte enhancer factor 2B Neighboring gene BLOC-1 related complex subunit 8 Neighboring gene Sharpr-MPRA regulatory region 11890 Neighboring gene nuclear receptor 2C2 associated protein Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138628

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA-binding protein RFXANK
    Names
    RFX-Bdelta4
    ankyrin repeat family A protein 1
    ankyrin repeat-containing regulatory factor X-associated protein
    regulatory factor X subunit B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_007432.1 RefSeqGene

      Range
      5001..14671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_102

    mRNA and Protein(s)

    1. NM_001278727.2NP_001265656.1  DNA-binding protein RFXANK isoform c

      See identical proteins and their annotated locations for NP_001265656.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, as compared to variant 1. The resulting isoform (c) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      AF094760, AW411190, BC114558
      Consensus CDS
      CCDS62611.1
      UniProtKB/Swiss-Prot
      O14593
      Related
      ENSP00000409138.2, ENST00000456252.7
      Conserved Domains (2) summary
      sd00045
      Location:101132
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:106196
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_001278728.2NP_001265657.1  DNA-binding protein RFXANK isoform b

      See identical proteins and their annotated locations for NP_001265657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and has an alternate splice site and lacks an in-frame exon in the coding region, as compared to variant 1. The resulting isoform (b) lacks an internal single aa and an internal segment, as compared to isoform a. Variants 2 and 4 encode the same isoform c.
      Source sequence(s)
      AF105428, AW411190, BG740813
      Consensus CDS
      CCDS12396.1
      UniProtKB/Swiss-Prot
      O14593
      UniProtKB/TrEMBL
      A0A024R7P0
      Related
      ENSP00000376138.3, ENST00000392324.8
      Conserved Domains (3) summary
      cd00204
      Location:95215
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:105194
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:100131
      ANK; ANK repeat [structural motif]
    3. NM_001370233.1NP_001357162.1  DNA-binding protein RFXANK isoform a

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003110
      Related
      ENSP00000384572.3, ENST00000407360.7
      Conserved Domains (3) summary
      COG0666
      Location:73258
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:123154
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:128218
      Ank_2; Ankyrin repeats (3 copies)
    4. NM_001370234.1NP_001357163.1  DNA-binding protein RFXANK isoform c

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003110
      Conserved Domains (2) summary
      sd00045
      Location:101132
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:106196
      Ank_2; Ankyrin repeats (3 copies)
    5. NM_001370235.1NP_001357164.1  DNA-binding protein RFXANK isoform d

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003110
      Conserved Domains (3) summary
      COG0666
      Location:72257
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:122153
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:127217
      Ank_2; Ankyrin repeats (3 copies)
    6. NM_001370236.1NP_001357165.1  DNA-binding protein RFXANK isoform d

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003110
      Conserved Domains (3) summary
      COG0666
      Location:72257
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:122153
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:127217
      Ank_2; Ankyrin repeats (3 copies)
    7. NM_001370237.1NP_001357166.1  DNA-binding protein RFXANK isoform e

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003110
      Conserved Domains (3) summary
      PTZ00322
      Location:59248
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      sd00045
      Location:122153
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:127217
      Ank_2; Ankyrin repeats (3 copies)
    8. NM_001370238.1NP_001357167.1  DNA-binding protein RFXANK isoform f

      Status: REVIEWED

      Source sequence(s)
      AC002126, AC003110
      Conserved Domains (4) summary
      PHA02798
      Location:171278
      PHA02798; ankyrin-like protein; Provisional
      COG0666
      Location:35218
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:123154
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:128218
      Ank_2; Ankyrin repeats (3 copies)
    9. NM_003721.4NP_003712.1  DNA-binding protein RFXANK isoform a

      See identical proteins and their annotated locations for NP_003712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF094760, AW411190, BM682278
      Consensus CDS
      CCDS12395.1
      UniProtKB/Swiss-Prot
      O14593
      UniProtKB/TrEMBL
      A0A024R7M1
      Related
      ENSP00000305071.2, ENST00000303088.9
      Conserved Domains (3) summary
      COG0666
      Location:73258
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:123154
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:128218
      Ank_2; Ankyrin repeats (3 copies)
    10. NM_134440.3NP_604389.1  DNA-binding protein RFXANK isoform b

      See identical proteins and their annotated locations for NP_604389.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site and lacks an in-frame exon in the coding region, as compared to transcript variant 1. The resulting isoform (b) lacks an internal single aa and an internal segment, as compared to isoform a. Variants 2 and 4 encode the same isoform c.
      Source sequence(s)
      AF105428, AW411190, BM682278, CX871218
      Consensus CDS
      CCDS12396.1
      UniProtKB/Swiss-Prot
      O14593
      UniProtKB/TrEMBL
      A0A024R7P0
      Conserved Domains (3) summary
      cd00204
      Location:95215
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:105194
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:100131
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      19192258..19201869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260134.5XP_005260191.1  DNA-binding protein RFXANK isoform X1

      See identical proteins and their annotated locations for XP_005260191.1

      UniProtKB/Swiss-Prot
      O14593
      UniProtKB/TrEMBL
      A0A024R7M1
      Conserved Domains (3) summary
      COG0666
      Location:73258
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:123154
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:128218
      Ank_2; Ankyrin repeats (3 copies)
    2. XM_005260137.4XP_005260194.1  DNA-binding protein RFXANK isoform X2

      See identical proteins and their annotated locations for XP_005260194.1

      Conserved Domains (3) summary
      COG0666
      Location:72257
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:122153
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:127217
      Ank_2; Ankyrin repeats (3 copies)
    3. XM_005260135.3XP_005260192.1  DNA-binding protein RFXANK isoform X1

      See identical proteins and their annotated locations for XP_005260192.1

      UniProtKB/Swiss-Prot
      O14593
      UniProtKB/TrEMBL
      A0A024R7M1
      Conserved Domains (3) summary
      COG0666
      Location:73258
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:123154
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:128218
      Ank_2; Ankyrin repeats (3 copies)
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