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

Gene ID: 256006, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75068297..75236878, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75549155..75717764, complement)
105.20220307 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 (9) 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)

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

  • 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
part_of 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_2023_10

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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