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

Gene ID: 8625, updated on 3-Jun-2018
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; Vega:OTTHUMG00000169224
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
See RFXANK in Genome Data Viewer
Location:
19p13.11
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (19192199..19201869)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19303008..19312678)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 161A Neighboring gene BORCS8-MEF2B readthrough Neighboring gene myocyte enhancer factor 2B Neighboring gene BLOC-1 related complex subunit 8 Neighboring gene nuclear receptor 2C2 associated protein Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene Neighboring gene hyaluronan and proteoglycan link protein 4

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC138628

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
histone deacetylase binding IEA
Inferred from Electronic Annotation
more info
 
transcription coregulator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001278727.1NP_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, BM682278
    Consensus CDS
    CCDS62611.1
    UniProtKB/Swiss-Prot
    O14593
    Related
    ENSP00000409138.2, OTTHUMP00000240437, ENST00000456252.7, OTTHUMT00000402922
    Conserved Domains (2) summary
    cd00204
    Location:96216
    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 ...
    sd00045
    Location:101132
    ANK; ANK repeat [structural motif]
  2. NM_001278728.1NP_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, BM712354
    Consensus CDS
    CCDS12396.1
    UniProtKB/Swiss-Prot
    O14593
    UniProtKB/TrEMBL
    A0A024R7P0
    Related
    ENSP00000376138.3, OTTHUMP00000240443, ENST00000392324.8, OTTHUMT00000402929
    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_003721.3NP_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, OTTHUMP00000240438, ENST00000303088.8, OTTHUMT00000402923
    Conserved Domains (2) summary
    cd00204
    Location:118238
    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 ...
    sd00045
    Location:123154
    ANK; ANK repeat [structural motif]
  4. NM_134440.2NP_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 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_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    19192199..19201869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260136.5XP_005260193.1  DNA-binding protein RFXANK isoform X2

    See identical proteins and their annotated locations for XP_005260193.1

    Conserved Domains (4) summary
    cd00204
    Location:117237
    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:127216
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:93143
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:122153
    ANK; ANK repeat [structural motif]
  2. 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 (2) summary
    cd00204
    Location:118238
    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 ...
    sd00045
    Location:123154
    ANK; ANK repeat [structural motif]
  3. XM_005260137.4XP_005260194.1  DNA-binding protein RFXANK isoform X2

    See identical proteins and their annotated locations for XP_005260194.1

    Conserved Domains (4) summary
    cd00204
    Location:117237
    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:127216
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:93143
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:122153
    ANK; ANK repeat [structural motif]
  4. 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 (2) summary
    cd00204
    Location:118238
    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 ...
    sd00045
    Location:123154
    ANK; ANK repeat [structural motif]
  5. XM_006722930.4XP_006722993.1  DNA-binding protein RFXANK isoform X2

    See identical proteins and their annotated locations for XP_006722993.1

    Conserved Domains (4) summary
    cd00204
    Location:117237
    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:127216
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:93143
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:122153
    ANK; ANK repeat [structural motif]
  6. XM_017027415.1XP_016882904.1  DNA-binding protein RFXANK isoform X1

    UniProtKB/Swiss-Prot
    O14593
    UniProtKB/TrEMBL
    A0A024R7M1
    Related
    ENSP00000384572.3, OTTHUMP00000240439, ENST00000407360.7, OTTHUMT00000402924
    Conserved Domains (2) summary
    cd00204
    Location:118238
    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 ...
    sd00045
    Location:123154
    ANK; ANK repeat [structural motif]
  7. XM_017027416.1XP_016882905.1  DNA-binding protein RFXANK isoform X3

    UniProtKB/Swiss-Prot
    O14593
    Conserved Domains (2) summary
    cd00204
    Location:96216
    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 ...
    sd00045
    Location:101132
    ANK; ANK repeat [structural motif]
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