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

    Gene ID: 63926, updated on 10-Dec-2024

    Summary

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    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 AllianceGenome:HGNC:15803
    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
    Summary
    Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 13.1), thyroid (RPKM 4.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKEF1 in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (10034987..10058303)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (10077861..10101161)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10015635..10038951)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene p21 (RAC1) activated kinase 5 Neighboring gene uncharacterized LOC101929348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17540 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:9958069-9959268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12670 Neighboring gene PPARG activating RBM14 associated lncRNA 1 Neighboring gene SNAP25 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:10028171-10028363 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:10029614-10030813 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:10055014-10056213 Neighboring gene uncharacterized LOC105372524 Neighboring gene uncharacterized LOC124904959

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica. Raby BA, et al. Hum Mol Genet, 2007 Feb 1. PMID 17142250
    2. Characterization of the pVHL Interactome in Human Testis Using High-Throughput Library Screening. Falconieri A, et al. Cancers (Basel), 2022 Feb 17. PMID 35205757, Free PMC Article
    3. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    5. Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure. Michael ARM, et al. Nat Commun, 2024 Oct 2. PMID 39358380, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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

    NCBI Reference Sequences (RefSeq)

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    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_001303472.2 → NP_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:330 → 454
      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:340 → 432
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:312 → 356
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:338 → 366
      ANK; ANK repeat [structural motif]
      cl08302
      Location:151 → 206
      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_022096.6 → NP_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
      B3KUQ0, Q9H6Y9, Q9NU02
      UniProtKB/TrEMBL
      Q8TCA8
      Related
      ENSP00000367644.1, ENST00000378392.6
      Conserved Domains (6) summary
      cd00204
      Location:519 → 643
      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:47 → 79
      Ank; Ankyrin repeat
      pfam12796
      Location:529 → 621
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:501 → 545
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:527 → 555
      ANK; ANK repeat [structural motif]
      cl08302
      Location:340 → 395
      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_198798.3 → NP_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
      B3KUQ0, Q9H6Y9, Q9NU02
      UniProtKB/TrEMBL
      Q8TCA8
      Related
      ENSP00000367631.3, ENST00000378380.4
      Conserved Domains (6) summary
      cd00204
      Location:519 → 643
      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:47 → 79
      Ank; Ankyrin repeat
      pfam12796
      Location:529 → 621
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:501 → 545
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:527 → 555
      ANK; ANK repeat [structural motif]
      cl08302
      Location:340 → 395
      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: 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_000020.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047440367.1 → XP_047296323.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform X1

    2. XM_047440366.1 → XP_047296322.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      10077861..10101161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323821.1 → XP_054179796.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform X1

    2. XM_054323820.1 → XP_054179795.1  ankyrin repeat and EF-hand domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NU02.2 GenPept UniProtKB/Swiss-Prot:Q9NU02

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