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    ANKRD40 ankyrin repeat domain 40 [ Homo sapiens (human) ]

    Gene ID: 91369, updated on 19-Sep-2024

    Summary

    Official Symbol
    ANKRD40provided by HGNC
    Official Full Name
    ankyrin repeat domain 40provided by HGNC
    Primary source
    HGNC:HGNC:28233
    See related
    Ensembl:ENSG00000154945 AllianceGenome:HGNC:28233
    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
    Expression
    Ubiquitous expression in fat (RPKM 27.4), brain (RPKM 23.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ANKRD40 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50693198..50707914, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51560394..51575123, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48770559..48785275, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 G Neighboring gene uncharacterized LOC101927253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48715992-48717191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48717641-48718411 Neighboring gene ATP binding cassette subfamily C member 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48738547-48739746 Neighboring gene Sharpr-MPRA regulatory region 5804 Neighboring gene ABCC3 (B) eExon liver enhancer Neighboring gene Sharpr-MPRA regulatory region 2031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48802297-48802796 Neighboring gene LUC7 like 3 pre-mRNA splicing factor Neighboring gene Sharpr-MPRA regulatory region 5668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12389 Neighboring gene ANKRD40 C-terminal like

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC15396, DKFZp451K241

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 40

    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.

    mRNA and Protein(s)

    1. NM_052855.4NP_443087.1  ankyrin repeat domain-containing protein 40

      See identical proteins and their annotated locations for NP_443087.1

      Status: VALIDATED

      Source sequence(s)
      AC005921, BC012978
      Consensus CDS
      CCDS11572.1
      UniProtKB/Swiss-Prot
      Q6AI12, Q96E32
      UniProtKB/TrEMBL
      A8IK34
      Related
      ENSP00000285243.6, ENST00000285243.7
      Conserved Domains (4) summary
      cd00204
      Location:1493
      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:4893
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1464
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:1440
      ANK; ANK repeat [structural motif]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50693198..50707914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51560394..51575123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)