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    ANKRD45 ankyrin repeat domain 45 [ Homo sapiens (human) ]

    Gene ID: 339416, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKRD45provided by HGNC
    Official Full Name
    ankyrin repeat domain 45provided by HGNC
    Primary source
    HGNC:HGNC:24786
    See related
    Ensembl:ENSG00000183831 MIM:618712; AllianceGenome:HGNC:24786
    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
    CT117
    Summary
    Involved in cell population proliferation. Located in cleavage furrow; cytoplasm; and midbody. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.3), brain (RPKM 0.8) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD45 in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (173608336..173715185, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (172966487..173073343, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173577475..173638990, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904456 Neighboring gene MPRA-validated peak459 silencer Neighboring gene Sharpr-MPRA regulatory region 4744 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 Neighboring gene peroxiredoxin 6 Neighboring gene solute carrier family 9 member C2 (putative) Neighboring gene uncharacterized LOC105371619 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173610829-173612028 Neighboring gene small nucleolar RNA U13 Neighboring gene testis expressed 50 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2115 Neighboring gene kelch like family member 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:173728073-173728573 Neighboring gene ribosomal protein S27 pseudogene 7 Neighboring gene RN7SK pseudogene 160

    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 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. Ankrd45 Is a Novel Ankyrin Repeat Protein Required for Cell Proliferation. Kang Y, et al. Genes (Basel), 2019 Jun 16. PMID 31208154, Free PMC Article
    2. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (10) 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

    • FLJ45235, MGC161631, MGC161633

    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 cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Flemming body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 45
    Names
    cancer/testis antigen 117

    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_198493.3 → NP_940895.1  ankyrin repeat domain-containing protein 45

      See identical proteins and their annotated locations for NP_940895.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AK127170, AL139142, BC126355
      Consensus CDS
      CCDS1309.1
      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1
      Related
      ENSP00000331268.2, ENST00000333279.3
      Conserved Domains (3) summary
      cd00204
      Location:74 → 162
      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 ...
      sd00045
      Location:77 → 107
      ANK; ANK repeat [structural motif]
      cl26953
      Location:144 → 240
      HSP70; Hsp70 protein

    RNA

    1. NR_158771.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL139142, BX248409

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      173608336..173715185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001123.2 → XP_016856612.1  ankyrin repeat domain-containing protein 45 isoform X1

      Conserved Domains (3) summary
      cd00204
      Location:94 → 182
      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 ...
      pfam13637
      Location:97 → 150
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:97 → 127
      ANK; ANK repeat [structural motif]

    2. XM_047419195.1 → XP_047275151.1  ankyrin repeat domain-containing protein 45 isoform X1

    3. XM_011509470.3 → XP_011507772.1  ankyrin repeat domain-containing protein 45 isoform X2

      See identical proteins and their annotated locations for XP_011507772.1

      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1
      Conserved Domains (3) summary
      cd00204
      Location:74 → 162
      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 ...
      sd00045
      Location:77 → 107
      ANK; ANK repeat [structural motif]
      cl26953
      Location:144 → 240
      HSP70; Hsp70 protein

    4. XM_047419198.1 → XP_047275154.1  ankyrin repeat domain-containing protein 45 isoform X2

      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1

    5. XM_024446627.2 → XP_024302395.1  ankyrin repeat domain-containing protein 45 isoform X2

      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1
      Conserved Domains (3) summary
      cd00204
      Location:74 → 162
      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 ...
      sd00045
      Location:77 → 107
      ANK; ANK repeat [structural motif]
      cl26953
      Location:144 → 240
      HSP70; Hsp70 protein

    6. XM_047419206.1 → XP_047275162.1  ankyrin repeat domain-containing protein 45 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      172966487..173073343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336244.1 → XP_054192219.1  ankyrin repeat domain-containing protein 45 isoform X1

    2. XM_054336245.1 → XP_054192220.1  ankyrin repeat domain-containing protein 45 isoform X1

    3. XM_054336248.1 → XP_054192223.1  ankyrin repeat domain-containing protein 45 isoform X2

      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1

    4. XM_054336247.1 → XP_054192222.1  ankyrin repeat domain-containing protein 45 isoform X2

      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1

    5. XM_054336246.1 → XP_054192221.1  ankyrin repeat domain-containing protein 45 isoform X2

      UniProtKB/Swiss-Prot
      A1A4G2, Q5TZF3, Q6ZST1

    6. XM_054336249.1 → XP_054192224.1  ankyrin repeat domain-containing protein 45 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TZF3.2 GenPept UniProtKB/Swiss-Prot:Q5TZF3

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