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    ANKEF1 ankyrin repeat and EF-hand domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 63926, updated on 23-Nov-2021

    Summary

    Official Symbol
    ANKEF1provided by HGNC
    Official Full Name
    ankyrin repeat and EF-hand domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:15803
    See related
    Ensembl:ENSG00000132623
    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
    ANKRD5
    Expression
    Broad expression in testis (RPKM 13.1), thyroid (RPKM 4.5) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ANKEF1 in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (10034987..10058303)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10015635..10038951)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929348 Neighboring gene p21 (RAC1) activated kinase 5 Neighboring gene SNAP25 antisense RNA 1 Neighboring gene PPARG activating RBM14 associated lncRNA 1 Neighboring gene uncharacterized LOC105372524 Neighboring gene synaptosome associated protein 25

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21669

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat and EF-hand domain-containing protein 1
    Names
    ankyrin repeat domain-containing protein 5

    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_001303472.2NP_001290401.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001290401.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK025322, AK097689, AL109754, BC028189, BP279314, BU621946
      UniProtKB/Swiss-Prot
      Q9NU02
      Conserved Domains (5) summary
      cd00204
      Location:330454
      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:340432
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:312356
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:338366
      ANK; ANK repeat [structural motif]
      cl08302
      Location:151206
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    2. NM_022096.6NP_071379.3  ankyrin repeat and EF-hand domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_071379.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK025322, AK097689, AL109754, BI562273, BP279314, BU621946
      Consensus CDS
      CCDS13108.1
      UniProtKB/Swiss-Prot
      Q9NU02
      Related
      ENSP00000367644.1, ENST00000378392.6
      Conserved Domains (6) summary
      cd00204
      Location:519643
      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 ...
      pfam00023
      Location:4779
      Ank; Ankyrin repeat
      pfam12796
      Location:529621
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:501545
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:527555
      ANK; ANK repeat [structural motif]
      cl08302
      Location:340395
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    3. NM_198798.3NP_942093.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_942093.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK025322, AK097689, AL109754, BP279314, BU621946
      Consensus CDS
      CCDS13108.1
      UniProtKB/Swiss-Prot
      Q9NU02
      Related
      ENSP00000367631.3, ENST00000378380.4
      Conserved Domains (6) summary
      cd00204
      Location:519643
      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 ...
      pfam00023
      Location:4779
      Ank; Ankyrin repeat
      pfam12796
      Location:529621
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:501545
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:527555
      ANK; ANK repeat [structural motif]
      cl08302
      Location:340395
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      10034987..10058303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260792.2XP_005260849.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005260849.1

      Conserved Domains (5) summary
      cd00204
      Location:330454
      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:340432
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:312356
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:338366
      ANK; ANK repeat [structural motif]
      cl08302
      Location:151206
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
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