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ANKIB1 ankyrin repeat and IBR domain containing 1 [ Homo sapiens (human) ]

Gene ID: 54467, updated on 10-Dec-2024

Summary

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Official Symbol
ANKIB1provided by HGNC
Official Full Name
ankyrin repeat and IBR domain containing 1provided by HGNC
Primary source
HGNC:HGNC:22215
See related
Ensembl:ENSG00000001629 MIM:620069; AllianceGenome:HGNC:22215
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
Summary
Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in brain (RPKM 9.0), testis (RPKM 8.7) and 25 other tissues See more
Orthologs
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Genomic context

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See ANKIB1 in Genome Data Viewer
Location:
7q21.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92245974..92401383)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93487261..93642673)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91875288..92030697)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368 Neighboring gene microRNA 1285-1 Neighboring gene KRIT1 ankyrin repeat containing Neighboring gene Sharpr-MPRA regulatory region 5961 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:91888982-91890181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92052283-92052783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18370 Neighboring gene transmembrane BAX inhibitor motif containing 7, pseudogene Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Analysis of the role of ubiquitin-interacting motifs in ubiquitin binding and ubiquitylation. Miller SL, et al. J Biol Chem, 2004 Aug 6. PMID 15155768
  2. E3 ubiquitin ligase ANKIB1 attenuates antiviral immune responses by promoting K48-linked polyubiquitination of MAVS. Liu W, et al. Cell Rep, 2024 Sep 24. PMID 39213157
  3. circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment. Piras R, et al. Nat Commun, 2022 Nov 25. PMID 36433954, Free PMC Article
  4. Crosstalk between Lys63- and Lys11-polyubiquitin signaling at DNA damage sites is driven by Cezanne. Wu X, et al. Genes Dev, 2019 Dec 1. PMID 31699778, Free PMC Article
  5. Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. Pao KC, et al. Nature, 2018 Apr. PMID 29643511

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. E3 ubiquitin ligase ANKIB1 attenuates antiviral immune responses by promoting K48-linked polyubiquitination of MAVS.
    Title: E3 ubiquitin ligase ANKIB1 attenuates antiviral immune responses by promoting K48-linked polyubiquitination of MAVS.
  2. circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment.
    Title: circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33123, KIAA1386, DKFZp434A0225

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ankyrin repeat and IBR domain-containing protein 1
NP_061877.1

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_019004.2 → NP_061877.1  ankyrin repeat and IBR domain-containing protein 1

    See identical proteins and their annotated locations for NP_061877.1

    Status: VALIDATED

    Source sequence(s)
    AB037807, AC000120, AC007566, BC063861
    Consensus CDS
    CCDS47639.1
    UniProtKB/Swiss-Prot
    Q6GMS4, Q6P3S9, Q9NTD7, Q9NW49, Q9P2G1
    Related
    ENSP00000265742.3, ENST00000265742.8
    Conserved Domains (5) summary
    cd00204
    Location:47 → 194
    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 ...
    pfam01485
    Location:402 → 475
    IBR; IBR domain, a half RING-finger domain
    pfam12796
    Location:50 → 175
    Ank_2; Ankyrin repeats (3 copies)
    pfam13639
    Location:333 → 379
    zf-RING_2; Ring finger domain
    sd00045
    Location:47 → 76
    ANK; ANK repeat [structural motif]

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92245974..92401383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93487261..93642673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2G1.3 GenPept UniProtKB/Swiss-Prot:Q9P2G1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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