Aliases for ANKIB1 Gene

Aliases for ANKIB1 Gene

  • Ankyrin Repeat And IBR Domain Containing 1 2 3 5
  • Ankyrin Repeat And IBR Domain-Containing Protein 1 3 4
  • EC 2.3.2.31 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. Diseases associated with ANKIB1 include Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas and Cavernous Malformation. An important paralog of this gene is ARIH1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for ANKIB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKIB1 Gene

Genomics for ANKIB1 Gene

GeneHancer (GH) Regulatory Elements for ANKIB1 Gene

Promoters and enhancers for ANKIB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J092244 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 176 4.7 HNRNPK ZBTB40 ZNF217 SIN3A TCF12 POLR2G GTF2E2 PHF8 ZFX CTCF KRIT1 ANKIB1 ENSG00000285953 lnc-LRRD1-4 CYP51A1 GATAD1 ENSG00000243107 FZD1 PEX1
GH07J092588 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15 +343.9 343926 3.4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 FAM133B PEX1 ENSG00000243107 KRIT1 AKAP9 GATAD1 RBM48 ANKIB1 MTERF1 lnc-CDK6-1
GH07J092402 Enhancer 0.7 Ensembl ENCODE 14.8 +157.5 157526 2.6 CTCF REST ZNF316 MAFK MAFG RAD21 POLR2A EZH2 HLF MYC KRIT1 ANKIB1 ERVW-1 CYP51A1 piR-55194-365 piR-38351-439
GH07J091879 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 4.3 -365.6 -365573 2.4 RXRA ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 LOC112267986 MTERF1 lnc-MTERF1-1 CYP51A1 AKAP9 ANKIB1 RF00017-6427
GH07J092293 Promoter/Enhancer 0.7 Ensembl ENCODE 11.9 +48.4 48381 1.3 IRF1 PRDM6 KRIT1 ANKIB1 lnc-GATAD1-6 RF00017-6431
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKIB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKIB1

Top Transcription factor binding sites by QIAGEN in the ANKIB1 gene promoter:
  • AP-1
  • c-Fos
  • CREB

Genomic Locations for ANKIB1 Gene

Genomic Locations for ANKIB1 Gene
chr7:92,245,974-92,401,770
(GRCh38/hg38)
Size:
155,797 bases
Orientation:
Plus strand
chr7:91,875,548-92,030,698
(GRCh37/hg19)
Size:
155,151 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 Lys528 and Lys634
  • Modification sites at PhosphoSitePlus

Other Protein References for ANKIB1 Gene

No data available for DME Specific Peptides for ANKIB1 Gene

Domains & Families for ANKIB1 Gene

Gene Families for ANKIB1 Gene

Protein Domains for ANKIB1 Gene

Blocks:
  • Ankyrin repeat signature
  • Zn-finger, RING
  • Zn-finger, cysteine-rich C6HC
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKIB1 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and IBR domain-containing protein 1 (AKIB1_HUMAN)
  • ANKIB1 protein (Q4VBX8_HUMAN)
  • ANKIB1 protein (Q58F08_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=. ;.

Enzyme Numbers (IUBMB) for ANKIB1 Gene

Phenotypes From GWAS Catalog 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 IEA,IPI 20195357
GO:0016740 transferase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA 21873635
GO:0046872 metal ion binding IEA --
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:
  • Ankib1 Ankib1<tm1b(EUCOMM)Hmgu>

Clone 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 3
plasma membrane 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA 21873635
GO:0005737 cytoplasm IBA 21873635
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

PathCards logo

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 21873635
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA 21873635
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

Drugs & Compounds for ANKIB1 Gene

No Compound Related Data Available

Transcripts for ANKIB1 Gene

mRNA/cDNA for ANKIB1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for ANKIB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ANKIB1 Gene



Protein tissue co-expression partners for ANKIB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKIB1 30
  • 93.47 (n)
cow
(Bos Taurus)
Mammalia ANKIB1 31 30
  • 92.06 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKIB1 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankib1 17 31 30
  • 88.95 (n)
rat
(Rattus norvegicus)
Mammalia Ankib1 30
  • 88.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves ANKIB1 31 30
  • 81.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKIB1 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankib1 30
  • 75.66 (n)
zebrafish
(Danio rerio)
Actinopterygii ankib1a 31
  • 75 (a)
OneToMany
ankib1b 31
  • 74 (a)
OneToMany
ankib1 30
  • 70.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ARI5 30
  • 46.89 (n)
rice
(Oryza sativa)
Liliopsida Os04g0492100 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKIB1: view image

Paralogs for ANKIB1 Gene

Paralogs for ANKIB1 Gene

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

  • AKIB1_HUMAN
  • C9JZ63_HUMAN
  • H7C0S0_HUMAN
  • H7C2L9_HUMAN
  • H7C2V2_HUMAN
  • Q4VBX8_HUMAN
  • Q58F08_HUMAN
genes like me logo Genes that share paralogs with ANKIB1: view

Variants for ANKIB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKIB1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
713224 Benign: not provided 92,398,908(+) C/G MISSENSE_VARIANT
rs143215997 Likely Benign: Angiokeratoma corporis diffusum with arteriovenous fistulas; Cerebral cavernous malformation 92,246,005(+) T/C FIVE_PRIME_UTR_VARIANT
rs28365965 Benign: Angiokeratoma corporis diffusum with arteriovenous fistulas; Cerebral cavernous malformation; not specified 92,245,996(+) C/T FIVE_PRIME_UTR_VARIANT
rs553392669 Likely Benign: Angiokeratoma corporis diffusum with arteriovenous fistulas; Cerebral cavernous malformation; not provided 92,246,017(+) G/A FIVE_PRIME_UTR_VARIANT
rs58075588 Benign: Angiokeratoma corporis diffusum with arteriovenous fistulas; Cerebral cavernous malformation 92,246,057(+) G/A FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for ANKIB1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(3) MalaCards diseases for ANKIB1 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKIB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKIB1: view

No data available for 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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54

Products for ANKIB1 Gene

Sources for ANKIB1 Gene