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Aliases for ANKIB1 Gene

Aliases for ANKIB1 Gene

  • Ankyrin Repeat And IBR Domain Containing 1 2 3 5
  • EC 2.3.2.- 4
  • KIAA1386 4

External Ids for ANKIB1 Gene

Previous GeneCards Identifiers for ANKIB1 Gene

  • GC07P091486
  • GC07P091519
  • GC07P091712
  • GC07P091875
  • GC07P086483

Summaries for ANKIB1 Gene

GeneCards Summary for ANKIB1 Gene

ANKIB1 (Ankyrin Repeat And IBR Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is CUL9.

UniProtKB/Swiss-Prot for ANKIB1 Gene

  • Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKIB1 Gene

Genomics for ANKIB1 Gene

Regulatory Elements for ANKIB1 Gene

Enhancers for ANKIB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G092588 1.4 ENCODE dbSUPER 15 +343.7 343655 2.3 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RBM48 ANKIB1 PEX1 GATAD1 FAM133B GC07P092561
GH07G092402 0.8 Ensembl ENCODE 14.8 +157.1 157064 2.1 CTCF HLF MAFG MAX REST MYC MAFK KRIT1 ANKIB1 ERVW-1 CYP51A1 GC07P092389 TMBIM7P
GH07G092638 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.2 +397.3 397258 10.3 HDGF PKNOX1 SIN3A GATA2 ZNF143 FOS JUNB TBX21 MAFF PBX2 CDK6 LOC101927497 FAM133B GATAD1 KRIT1 ANKIB1 SAMD9 GC07M092611 GC07M092702 RNU6-10P
GH07G092418 0.5 FANTOM5 10.3 +172.8 172819 0.1 CTCF ZNF654 GATAD1 IKZF1 ERVW-1 ANKIB1 KRIT1 LRRD1 TMBIM7P GC07P092389
GH07G091945 1.1 Ensembl ENCODE 4.5 -300.1 -300134 2.1 HDAC1 PKNOX1 FOXA2 ZSCAN9 RARA ZNF121 RELB IKZF2 CEBPB PBX2 CYP51A1 MTERF1 ANKIB1 GC07M091897 GC07P091998
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKIB1 on UCSC Golden Path with GeneCards custom track

Promoters for ANKIB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215078 84 3001 HDGF CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

Transcription factor binding sites by QIAGEN in the ANKIB1 gene promoter:

Genomic Location for ANKIB1 Gene

Chromosome:
7
Start:
92,246,216 bp from pter
End:
92,401,770 bp from pter
Size:
155,555 bases
Orientation:
Plus strand

Genomic View for ANKIB1 Gene

Genes around ANKIB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKIB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKIB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKIB1 Gene

Proteins for ANKIB1 Gene

  • Protein details for ANKIB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2G1-AKIB1_HUMAN
    Recommended name:
    Ankyrin repeat and IBR domain-containing protein 1
    Protein Accession:
    Q9P2G1
    Secondary Accessions:
    • Q6GMS4
    • Q6P3S9
    • Q9NTD7
    • Q9NW49

    Protein attributes for ANKIB1 Gene

    Size:
    1089 amino acids
    Molecular mass:
    122002 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH63861.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91537.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92624.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ANKIB1 Gene

Post-translational modifications for ANKIB1 Gene

  • Ubiquitination at posLast=528528 and posLast=634634
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKIB1 Gene

Domains & Families for ANKIB1 Gene

Suggested Antigen Peptide Sequences for ANKIB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2G1

UniProtKB/Swiss-Prot:

AKIB1_HUMAN :
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
  • Belongs to the RBR family.
Domain:
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Family:
  • Belongs to the RBR family.
genes like me logo Genes that share domains with ANKIB1: view

Function for ANKIB1 Gene

Molecular function for ANKIB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates.

Enzyme Numbers (IUBMB) for ANKIB1 Gene

Gene Ontology (GO) - Molecular Function for ANKIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 20195357
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA --
genes like me logo Genes that share ontologies with ANKIB1: view
genes like me logo Genes that share phenotypes with ANKIB1: view

Animal Models for ANKIB1 Gene

MGI Knock Outs for ANKIB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKIB1 Gene

Localization for ANKIB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKIB1 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ANKIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with ANKIB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKIB1 Gene

Pathways & Interactions for ANKIB1 Gene

SuperPathways for ANKIB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA --
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with ANKIB1: view

No data available for Pathways by source and SIGNOR curated interactions for ANKIB1 Gene

Transcripts for ANKIB1 Gene

Unigene Clusters for ANKIB1 Gene

Ankyrin repeat and IBR domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKIB1 Gene

No ASD Table

Relevant External Links for ANKIB1 Gene

GeneLoc Exon Structure for
ANKIB1
ECgene alternative splicing isoforms for
ANKIB1

Expression for ANKIB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKIB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKIB1 Gene

This gene is overexpressed in Adrenal (35.0) and Fetal Brain (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKIB1 Gene



Protein tissue co-expression partners for ANKIB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKIB1 Gene:

ANKIB1

SOURCE GeneReport for Unigene cluster for ANKIB1 Gene:

Hs.83293

Evidence on tissue expression from TISSUES for ANKIB1 Gene

  • Nervous system(4.8)
  • Skin(4.3)
  • Blood(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with ANKIB1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKIB1 Gene

Orthologs for ANKIB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ANKIB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKIB1 35 34
  • 99.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKIB1 34
  • 93.47 (n)
cow
(Bos Taurus)
Mammalia ANKIB1 35 34
  • 92.06 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKIB1 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankib1 16 35 34
  • 88.95 (n)
rat
(Rattus norvegicus)
Mammalia Ankib1 34
  • 88.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves ANKIB1 35 34
  • 81.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKIB1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankib1 34
  • 75.66 (n)
zebrafish
(Danio rerio)
Actinopterygii ankib1a 35
  • 75 (a)
OneToMany
ankib1b 35
  • 74 (a)
OneToMany
ankib1 34
  • 70.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ARI5 34
  • 46.89 (n)
rice
(Oryza sativa)
Liliopsida Os04g0492100 34
  • 48.87 (n)
Species where no ortholog for ANKIB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKIB1 Gene

ENSEMBL:
Gene Tree for ANKIB1 (if available)
TreeFam:
Gene Tree for ANKIB1 (if available)

Paralogs for ANKIB1 Gene

Paralogs for ANKIB1 Gene

(3) SIMAP similar genes for ANKIB1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ANKIB1: view

Variants for ANKIB1 Gene

Sequence variations from dbSNP and Humsavar for ANKIB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs117169559 Likely benign 92,245,107(+) TTGGA(C/T)CACCG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs143215997 Likely benign 92,246,005(+) CCTGC(C/T)CCTTT upstream-variant-2KB, utr-variant-5-prime
rs553392669 Likely benign 92,246,017(+) CACTG(A/G)ACCTG upstream-variant-2KB, utr-variant-5-prime
rs570721041 Likely benign 92,245,600(+) CCTGG(A/C)GAGGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs571563061 Likely benign 92,245,894(+) TTCCA(A/C/G)CCCGC intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ANKIB1 Gene

Variant ID Type Subtype PubMed ID
esv2677331 CNV deletion 23128226
esv2734819 CNV deletion 23290073
esv3614138 CNV loss 21293372

Variation tolerance for ANKIB1 Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.25; 90.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKIB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKIB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKIB1 Gene

Disorders for ANKIB1 Gene

Relevant External Links for ANKIB1

Genetic Association Database (GAD)
ANKIB1
Human Genome Epidemiology (HuGE) Navigator
ANKIB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKIB1

No disorders were found for ANKIB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKIB1 Gene

Publications for ANKIB1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64

Products for ANKIB1 Gene

Sources for ANKIB1 Gene

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