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

Gene ID: 256006, updated on 31-Oct-2022

Summary

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
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Genomic context

See ANKRD31 in Genome Data Viewer
Location:
5q13.3
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75068297..75236878, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75549155..75717745, 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 ribosomal protein L27a pseudogene 5 Neighboring gene glucosaminyl (N-acetyl) transferase 4 Neighboring gene uncharacterized LOC124901006 Neighboring gene SUMO2 pseudogene 5 Neighboring gene uncharacterized LOC124901007

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001164443.1NP_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:10991298
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:11541185
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11591251
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:16811781
    RAMA; Restriction Enzyme Adenine Methylase Associated
  2. NM_001372053.1NP_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:11921439
    PHA02874; ankyrin repeat protein; Provisional
    COG0666
    Location:433628
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:12111242
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:12161308
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:17381838
    RAMA; Restriction Enzyme Adenine Methylase Associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017009319.2XP_016864808.1  ankyrin repeat domain-containing protein 31 isoform X8

    Conserved Domains (5) summary
    PHA02874
    Location:10961343
    PHA02874; ankyrin repeat protein; Provisional
    COG0666
    Location:337532
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:11151146
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11201212
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:16421742
    RAMA; Restriction Enzyme Adenine Methylase Associated
  2. XM_011543301.4XP_011541603.1  ankyrin repeat domain-containing protein 31 isoform X6

    Conserved Domains (4) summary
    COG0666
    Location:11001299
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:11551186
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11601252
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:16821782
    RAMA; Restriction Enzyme Adenine Methylase Associated
  3. XM_047417078.1XP_047273034.1  ankyrin repeat domain-containing protein 31 isoform X7

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

    Conserved Domains (5) summary
    PHA02874
    Location:11931440
    PHA02874; ankyrin repeat protein; Provisional
    COG0666
    Location:434629
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:12121243
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:12171309
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:17391785
    RAMA; Restriction Enzyme Adenine Methylase Associated
  5. XM_011543300.4XP_011541602.1  ankyrin repeat domain-containing protein 31 isoform X2

    Conserved Domains (5) summary
    PHA02874
    Location:11931440
    PHA02874; ankyrin repeat protein; Provisional
    COG0666
    Location:434629
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:12121243
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:12171309
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:17391839
    RAMA; Restriction Enzyme Adenine Methylase Associated
  6. XM_011543298.4XP_011541600.1  ankyrin repeat domain-containing protein 31 isoform X1

    Conserved Domains (5) summary
    PHA02874
    Location:11931440
    PHA02874; ankyrin repeat protein; Provisional
    COG0666
    Location:434629
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:12121243
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:12171309
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:17391839
    RAMA; Restriction Enzyme Adenine Methylase Associated
  7. XM_024446010.2XP_024301778.1  ankyrin repeat domain-containing protein 31 isoform X4

    Conserved Domains (5) summary
    COG0666
    Location:400595
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:11781209
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11831275
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:17051805
    RAMA; Restriction Enzyme Adenine Methylase Associated
    cl39094
    Location:12491320
    Ank_2; Ankyrin repeats (3 copies)
  8. XM_024446011.2XP_024301779.1  ankyrin repeat domain-containing protein 31 isoform X10

    Conserved Domains (5) summary
    COG0666
    Location:304499
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:10821113
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:10871179
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:16091709
    RAMA; Restriction Enzyme Adenine Methylase Associated
    cl39094
    Location:11531224
    Ank_2; Ankyrin repeats (3 copies)
  9. XM_017009317.1XP_016864806.1  ankyrin repeat domain-containing protein 31 isoform X3

    Conserved Domains (5) summary
    COG0666
    Location:401596
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:11791210
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11841276
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:17061806
    RAMA; Restriction Enzyme Adenine Methylase Associated
    cl39094
    Location:12501321
    Ank_2; Ankyrin repeats (3 copies)
  10. XM_017009320.2XP_016864809.1  ankyrin repeat domain-containing protein 31 isoform X9

    Conserved Domains (5) summary
    COG0666
    Location:318513
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:10961127
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11011193
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:16231723
    RAMA; Restriction Enzyme Adenine Methylase Associated
    cl39094
    Location:11671238
    Ank_2; Ankyrin repeats (3 copies)
  11. XM_011543302.2XP_011541604.1  ankyrin repeat domain-containing protein 31 isoform X9

    Conserved Domains (5) summary
    COG0666
    Location:318513
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:10961127
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:11011193
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:16231723
    RAMA; Restriction Enzyme Adenine Methylase Associated
    cl39094
    Location:11671238
    Ank_2; Ankyrin repeats (3 copies)
  12. XM_017009321.1XP_016864810.1  ankyrin repeat domain-containing protein 31 isoform X11

    Conserved Domains (5) summary
    COG0666
    Location:5195
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:778809
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:783875
    Ank_2; Ankyrin repeats (3 copies)
    pfam18755
    Location:13051405
    RAMA; Restriction Enzyme Adenine Methylase Associated
    cl39094
    Location:849920
    Ank_2; Ankyrin repeats (3 copies)
  13. XM_017009322.3XP_016864811.1  ankyrin repeat domain-containing protein 31 isoform X12

    Conserved Domains (4) summary
    COG0666
    Location:434629
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:12121243
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:12171309
    Ank_2; Ankyrin repeats (3 copies)
    cl39094
    Location:12831354
    Ank_2; Ankyrin repeats (3 copies)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    75549155..75717745 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)