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ANKRD44 ankyrin repeat domain 44 [ Homo sapiens (human) ]

Gene ID: 91526, updated on 5-Aug-2018

Summary

Official Symbol
ANKRD44provided by HGNC
Official Full Name
ankyrin repeat domain 44provided by HGNC
Primary source
HGNC:HGNC:25259
See related
Ensembl:ENSG00000065413 Vega:OTTHUMG00000154411
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
PP6-ARS-B
Expression
Broad expression in lymph node (RPKM 12.0), appendix (RPKM 9.6) and 23 other tissues See more
Orthologs

Genomic context

See ANKRD44 in Genome Data Viewer
Location:
2q33.1
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (196962617..197310797, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (197831741..198175521, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 66 Neighboring gene post-GPI attachment to proteins 1 Neighboring gene ribosomal protein L4 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 15 Neighboring gene uncharacterized LOC101927596 Neighboring gene uncharacterized LOC105373826 Neighboring gene ANKRD44 intronic transcript 1 Neighboring gene ATP synthase membrane subunit c locus 2 pseudogene 3 Neighboring gene uncharacterized LOC105373824 Neighboring gene nucleophosmin 1 pseudogene 46

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
NHGRI GWA Catalog
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11570, MGC21968, MGC70444

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B
Names
ankyrin repeat domain-containing protein 44
protein phosphatase 6 ankyrin repeat subunit B
serine/threonine-protein phosphatase 6 regulatory subunit ARS-B

NCBI Reference Sequences (RefSeq)

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_001195144.1NP_001182073.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform A

    See identical proteins and their annotated locations for NP_001182073.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
    Source sequence(s)
    AC010746, AC013264, AC017035
    Consensus CDS
    CCDS74619.1
    UniProtKB/Swiss-Prot
    Q8N8A2
    Related
    ENSP00000282272.9, ENST00000282272.14
    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:532587
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
  2. NM_153697.2NP_710181.2  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform B

    See identical proteins and their annotated locations for NP_710181.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (B) contains an alternate segment in the 3' UTR and lacks the last 18 exons, compared to variant A. The resulting protein (isoform B) is shorter than isoform A.
    Source sequence(s)
    AI439698, AK301209, BC063622
    Consensus CDS
    CCDS33355.2
    UniProtKB/Swiss-Prot
    Q8N8A2
    UniProtKB/TrEMBL
    B7Z6Z7
    Related
    ENSP00000387233.1, OTTHUMP00000205628, ENST00000409919.5, OTTHUMT00000335115
    Conserved Domains (3) summary
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:276364
    Ank_2; Ankyrin repeats (3 copies)
    cl26073
    Location:22310
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    196962617..197310797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246948.2XP_005247005.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X7

    UniProtKB/Swiss-Prot
    Q8N8A2
    Related
    ENSP00000331516.2, OTTHUMP00000205626, ENST00000328737.6, OTTHUMT00000335113
    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:550605
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
  2. XM_005246946.1XP_005247003.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X2

    Related
    ENSP00000496628.1, ENST00000647377.1
    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:532587
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
  3. XM_017005252.1XP_016860741.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X8

  4. XM_005246945.1XP_005247002.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X1

    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:550605
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
  5. XM_006712838.3XP_006712901.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X6

    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:550605
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
  6. XM_011512148.2XP_011510450.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X5

    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:550605
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]
  7. XM_024453216.1XP_024308984.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X3

    Conserved Domains (5) summary
    cd00204
    Location:587716
    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:5179
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:318428
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:525580
    Ank_4; Ankyrin repeats (many copies)
    cl26073
    Location:61334
    Ank_2; Ankyrin repeats (3 copies)
  8. XM_005246947.2XP_005247004.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X4

    Conserved Domains (5) summary
    cd00204
    Location:134259
    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:271304
    Ank; Ankyrin repeat
    pfam12796
    Location:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:550605
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:76104
    ANK; ANK repeat [structural motif]

RNA

  1. XR_001739037.1 RNA Sequence

  2. XR_001739038.1 RNA Sequence

  3. XR_923062.2 RNA Sequence

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