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    ANKRD31 ankyrin repeat domain 31 [ Homo sapiens (human) ]

    Gene ID: 256006, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD31provided by HGNC
    Official Full Name
    ankyrin repeat domain 31provided by HGNC
    Primary source
    HGNC:HGNC:26853
    See related
    Ensembl:ENSG00000145700 MIM:618423; AllianceGenome:HGNC:26853
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]
    Expression
    Biased expression in testis (RPKM 3.8) and esophagus (RPKM 0.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD31 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75068297..75236878, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75549155..75717764, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74364122..74532703, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22677 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74302578-74303200 Neighboring gene ribosomal protein L27a pseudogene 5 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:74332401-74333600 Neighboring gene glucosaminyl (N-acetyl) transferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16100 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:74351485-74352075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16101 Neighboring gene uncharacterized LOC124901006 Neighboring gene SUMO2 pseudogene 5 Neighboring gene uncharacterized LOC124901007

    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. Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency. Wang Y, et al. Genet Med, 2021 Dec. PMID 34257419, Free PMC Article
    2. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Lucariello M, et al. Hum Genet, 2016 Dec. PMID 27541642, Free PMC Article
    3. REC114 Partner ANKRD31 Controls Number, Timing, and Location of Meiotic DNA Breaks. Boekhout M, et al. Mol Cell, 2019 Jun 6. PMID 31003867, Free PMC Article
    4. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). Hart AB, et al. PLoS One, 2012. PMID 22952603, Free PMC Article
    5. Hypermethylation of UCHL1 Promotes Metastasis of Nasopharyngeal Carcinoma by Suppressing Degradation of Cortactin (CTTN). Zhao Y, et al. Cells, 2020 Feb 27. PMID 32120844, Free PMC Article

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog

    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

    • FLJ40191

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic DNA double-strand break formation involved in reciprocal meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of meiotic DNA double-strand break formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 31
    Names
    putative ankyrin repeat domain-containing protein 31

    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.

    Genomic

    1. NG_053151.1 RefSeqGene

      Range
      5020..173601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164443.1 → NP_001157915.1  ankyrin repeat domain-containing protein 31 isoform 2

      See identical proteins and their annotated locations for NP_001157915.1

      Status: REVIEWED

      Source sequence(s)
      AC008769, AC093259
      Consensus CDS
      CCDS47233.1
      UniProtKB/Swiss-Prot
      Q8N7Z5
      Related
      ENSP00000274361.3, ENST00000274361.3
      Conserved Domains (4) summary
      COG0666
      Location:1099 → 1298
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1154 → 1185
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1159 → 1251
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1681 → 1781
      RAMA; Restriction Enzyme Adenine Methylase Associated

    2. NM_001372053.1 → NP_001358982.1  ankyrin repeat domain-containing protein 31 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC008769, AC093259
      Consensus CDS
      CCDS93735.1
      UniProtKB/TrEMBL
      D6RJB7
      Related
      ENSP00000427262.2, ENST00000506364.6
      Conserved Domains (5) summary
      PHA02874
      Location:1192 → 1439
      PHA02874; ankyrin repeat protein; Provisional
      COG0666
      Location:433 → 628
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1211 → 1242
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1216 → 1308
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1738 → 1838
      RAMA; Restriction Enzyme Adenine Methylase Associated

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      75068297..75236878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009319.2 → XP_016864808.1  ankyrin repeat domain-containing protein 31 isoform X8

      Conserved Domains (5) summary
      PHA02874
      Location:1096 → 1343
      PHA02874; ankyrin repeat protein; Provisional
      COG0666
      Location:337 → 532
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1115 → 1146
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1120 → 1212
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1642 → 1742
      RAMA; Restriction Enzyme Adenine Methylase Associated

    2. XM_011543301.4 → XP_011541603.1  ankyrin repeat domain-containing protein 31 isoform X6

      Conserved Domains (4) summary
      COG0666
      Location:1100 → 1299
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1155 → 1186
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1160 → 1252
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1682 → 1782
      RAMA; Restriction Enzyme Adenine Methylase Associated

    3. XM_047417078.1 → XP_047273034.1  ankyrin repeat domain-containing protein 31 isoform X7

    4. XM_017009318.3 → XP_016864807.1  ankyrin repeat domain-containing protein 31 isoform X5

      Conserved Domains (5) summary
      PHA02874
      Location:1193 → 1440
      PHA02874; ankyrin repeat protein; Provisional
      COG0666
      Location:434 → 629
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1212 → 1243
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1217 → 1309
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1739 → 1785
      RAMA; Restriction Enzyme Adenine Methylase Associated

    5. XM_011543300.4 → XP_011541602.1  ankyrin repeat domain-containing protein 31 isoform X2

      Conserved Domains (5) summary
      PHA02874
      Location:1193 → 1440
      PHA02874; ankyrin repeat protein; Provisional
      COG0666
      Location:434 → 629
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1212 → 1243
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1217 → 1309
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1739 → 1839
      RAMA; Restriction Enzyme Adenine Methylase Associated

    6. XM_011543298.4 → XP_011541600.1  ankyrin repeat domain-containing protein 31 isoform X1

      Conserved Domains (5) summary
      PHA02874
      Location:1193 → 1440
      PHA02874; ankyrin repeat protein; Provisional
      COG0666
      Location:434 → 629
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1212 → 1243
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1217 → 1309
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1739 → 1839
      RAMA; Restriction Enzyme Adenine Methylase Associated

    7. XM_024446010.2 → XP_024301778.1  ankyrin repeat domain-containing protein 31 isoform X4

      Conserved Domains (5) summary
      COG0666
      Location:400 → 595
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1178 → 1209
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1183 → 1275
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1705 → 1805
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl39094
      Location:1249 → 1320
      Ank_2; Ankyrin repeats (3 copies)

    8. XM_024446011.2 → XP_024301779.1  ankyrin repeat domain-containing protein 31 isoform X10

      Conserved Domains (5) summary
      COG0666
      Location:304 → 499
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1082 → 1113
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1087 → 1179
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1609 → 1709
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl39094
      Location:1153 → 1224
      Ank_2; Ankyrin repeats (3 copies)

    9. XM_017009317.1 → XP_016864806.1  ankyrin repeat domain-containing protein 31 isoform X3

      Conserved Domains (5) summary
      COG0666
      Location:401 → 596
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1179 → 1210
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1184 → 1276
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1706 → 1806
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl39094
      Location:1250 → 1321
      Ank_2; Ankyrin repeats (3 copies)

    10. XM_017009320.2 → XP_016864809.1  ankyrin repeat domain-containing protein 31 isoform X9

      Conserved Domains (5) summary
      COG0666
      Location:318 → 513
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1096 → 1127
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1101 → 1193
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1623 → 1723
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl39094
      Location:1167 → 1238
      Ank_2; Ankyrin repeats (3 copies)

    11. XM_011543302.2 → XP_011541604.1  ankyrin repeat domain-containing protein 31 isoform X9

      Conserved Domains (5) summary
      COG0666
      Location:318 → 513
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1096 → 1127
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1101 → 1193
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1623 → 1723
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl39094
      Location:1167 → 1238
      Ank_2; Ankyrin repeats (3 copies)

    12. XM_017009321.1 → XP_016864810.1  ankyrin repeat domain-containing protein 31 isoform X11

      Conserved Domains (5) summary
      COG0666
      Location:5 → 195
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:778 → 809
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:783 → 875
      Ank_2; Ankyrin repeats (3 copies)
      pfam18755
      Location:1305 → 1405
      RAMA; Restriction Enzyme Adenine Methylase Associated
      cl39094
      Location:849 → 920
      Ank_2; Ankyrin repeats (3 copies)

    13. XM_017009322.3 → XP_016864811.1  ankyrin repeat domain-containing protein 31 isoform X12

      Conserved Domains (4) summary
      COG0666
      Location:434 → 629
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:1212 → 1243
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1217 → 1309
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:1283 → 1354
      Ank_2; Ankyrin repeats (3 copies)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      75549155..75717764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352296.1 → XP_054208271.1  ankyrin repeat domain-containing protein 31 isoform X4

    2. XM_054352303.1 → XP_054208278.1  ankyrin repeat domain-containing protein 31 isoform X10

    3. XM_054352300.1 → XP_054208275.1  ankyrin repeat domain-containing protein 31 isoform X8

    4. XM_054352298.1 → XP_054208273.1  ankyrin repeat domain-containing protein 31 isoform X6

    5. XM_054352299.1 → XP_054208274.1  ankyrin repeat domain-containing protein 31 isoform X7

    6. XM_054352297.1 → XP_054208272.1  ankyrin repeat domain-containing protein 31 isoform X5

    7. XM_054352294.1 → XP_054208269.1  ankyrin repeat domain-containing protein 31 isoform X2

    8. XM_054352293.1 → XP_054208268.1  ankyrin repeat domain-containing protein 31 isoform X1

    9. XM_054352295.1 → XP_054208270.1  ankyrin repeat domain-containing protein 31 isoform X3

    10. XM_054352302.1 → XP_054208277.1  ankyrin repeat domain-containing protein 31 isoform X9

    11. XM_054352301.1 → XP_054208276.1  ankyrin repeat domain-containing protein 31 isoform X9

    12. XM_054352304.1 → XP_054208279.1  ankyrin repeat domain-containing protein 31 isoform X11

    13. XM_054352305.1 → XP_054208280.1  ankyrin repeat domain-containing protein 31 isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7Z5.2 GenPept UniProtKB/Swiss-Prot:Q8N7Z5

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