ANKHD1

Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.^[5][6][7][8]

ANKHD1
Identifiers
Aliases	ANKHD1, MASK, VBARP, MASK1, PP2500, ankyrin repeat and KH domain containing 1
External IDs	OMIM: 610500; MGI: 1921733; HomoloGene: 87006; GeneCards: ANKHD1; OMA:ANKHD1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.3 Start 140,401,814 bp[1] End 140,539,856 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 B2 Start 36,693,040 bp[2] End 36,791,966 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve bone marrow cell body of pancreas epithelium of colon ventricular zone gastric mucosa skin of abdomen right lobe of thyroid gland left ovary right ovary Top expressed in genital tubercle tail of embryo Rostral migratory stream lacrimal gland neural layer of retina crypt of lieberkuhn of small intestine conjunctival fornix hair follicle ciliary body retinal pigment epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding nucleic acid binding RNA binding Cellular component cytoplasm Biological process innate immune response Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54882 108857 Ensembl ENSG00000131503 ENSMUSG00000024483 UniProt Q8IWZ3 n/a RefSeq (mRNA) NM_024668 NM_001197030 NM_017747 NM_017978 NM_175375 RefSeq (protein) NP_065741 NP_001183959 NP_060217 NP_060448 NP_078944 n/a Location (UCSC) Chr 5: 140.4 – 140.54 Mb Chr 18: 36.69 – 36.79 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein with multiple ankyrin repeat domains and a single KH domain. Co-transcription of this gene and the neighboring downstream gene (EIF4EBP3) generates a transcript (MASK-BP3) which encodes a fusion protein composed of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments.^[8]