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

Gene ID: 63926, updated on 5-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (10034987..10058303)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (10077861..10101161)
105.20220307 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. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article

See all (13) 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)

Genotypes

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_2023_10

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

Gene LinkOut

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