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Aliases for IFT57 Gene

Aliases for IFT57 Gene

  • Intraflagellar Transport 57 2 3 5
  • Estrogen-Related Receptor Beta-Like Protein 1 3 4
  • Estrogen-Related Receptor Beta Like 1 2 3
  • Dermal Papilla-Derived Protein 8 3 4
  • HIP1-Interacting Protein 3 4
  • ESRRBL1 3 4
  • MHS4R2 3 4
  • HIPPI 3 4
  • Huntingtin Interacting Protein-1 Interacting Protein 3
  • Intraflagellar Transport 57 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 57 Homolog 3
  • Intraflagellar Transport 57 Homolog 3
  • HIP1 Protein Interactor 3
  • OFD18 3
  • DERP8 4

External Ids for IFT57 Gene

Previous HGNC Symbols for IFT57 Gene

  • ESRRBL1

Previous GeneCards Identifiers for IFT57 Gene

  • GC03M109363
  • GC03M107879
  • GC03M105252

Summaries for IFT57 Gene

GeneCards Summary for IFT57 Gene

IFT57 (Intraflagellar Transport 57) is a Protein Coding gene. Diseases associated with IFT57 include Orofaciodigital Syndrome Xviii and Oral-Facial-Digital Syndrome With Short Stature And Brachymesophalangia. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.

UniProtKB/Swiss-Prot for IFT57 Gene

  • Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5-AAAGACATG-3 present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear.

Gene Wiki entry for IFT57 Gene

Additional gene information for IFT57 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT57 Gene

Genomics for IFT57 Gene

GeneHancer (GH) Regulatory Elements for IFT57 Gene

Promoters and enhancers for IFT57 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
GH03J108219 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 658.2 +0.3 349 5.8 HDGF PKNOX1 ATF1 ZNF133 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF48 IFT57 HHLA2 CD47 GC03M108125
GH03J108295 Promoter/Enhancer 1 EPDnew ENCODE 18.8 -75.6 -75634 5.4 SP1 RXRA HLF JUNB BATF ATF2 PRDM1 HHLA2 IFT57 CD47 HNRNPA1P17
GH03J108098 Enhancer 1.3 Ensembl ENCODE dbSUPER 14.4 +122.2 122188 3.5 ATF1 PKNOX1 SMAD1 IRF4 TCF12 ATF7 RUNX3 JUNB ATF4 SMARCA4 IFT57 CD47 LOC105374031 LINC01215
GH03J108102 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.2 +120.0 120042 0.7 ATF1 GTF2E2 BMI1 IRF4 ZNF316 POLR2A EED ATF7 TRIM24 IKZF2 IFT57 LOC105374031 LINC01215
GH03J108123 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +96.5 96465 6.2 HDGF PKNOX1 ATF1 YBX1 IRF4 TCF12 ZNF766 GATA2 ZNF207 ZNF143 LINC01215 CD47 IFT57 MYH15 DZIP3 GC03M108125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFT57 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFT57 gene promoter:
  • NF-kappaB1
  • NF-kappaB
  • Lmo2
  • GATA-1
  • POU3F2
  • RORalpha2
  • Nkx6-1
  • AML1a

Genomic Locations for IFT57 Gene

Genomic Locations for IFT57 Gene
chr3:108,160,812-108,222,570
(GRCh38/hg38)
Size:
61,759 bases
Orientation:
Minus strand
chr3:107,879,659-107,941,417
(GRCh37/hg19)
Size:
61,759 bases
Orientation:
Minus strand

Genomic View for IFT57 Gene

Genes around IFT57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT57 Gene

Proteins for IFT57 Gene

  • Protein details for IFT57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWB7-IFT57_HUMAN
    Recommended name:
    Intraflagellar transport protein 57 homolog
    Protein Accession:
    Q9NWB7
    Secondary Accessions:
    • Q96DA9

    Protein attributes for IFT57 Gene

    Size:
    429 amino acids
    Molecular mass:
    49108 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT20 and IFT88. Interacts with BLOC1S2 and RYBP. Interacts with HOMER1, possibly preventing pro-apoptotic effects of IFT57 (By similarity). Interacts with HIP1. In normal conditions, it poorly interacts with HIP1, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57, leading to apoptosis. Interacts with BFAR. Interacts with chicken anemia virus protein apoptin. Interacts with TTC25 (PubMed:25860617).

neXtProt entry for IFT57 Gene

Post-translational modifications for IFT57 Gene

  • Ubiquitination at isoforms=329
  • Modification sites at PhosphoSitePlus

Other Protein References for IFT57 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IFT57 Gene

Domains & Families for IFT57 Gene

Gene Families for IFT57 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IFT57 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWB7

UniProtKB/Swiss-Prot:

IFT57_HUMAN :
  • The pseudo DED region (pDED) meadiates the interaction with HIP1.
  • Belongs to the IFT57 family.
Domain:
  • The pseudo DED region (pDED) meadiates the interaction with HIP1.
Family:
  • Belongs to the IFT57 family.
genes like me logo Genes that share domains with IFT57: view

Function for IFT57 Gene

Molecular function for IFT57 Gene

UniProtKB/Swiss-Prot Function:
Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5-AAAGACATG-3 present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear.

Phenotypes From GWAS Catalog for IFT57 Gene

Gene Ontology (GO) - Molecular Function for IFT57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 11788820
genes like me logo Genes that share ontologies with IFT57: view
genes like me logo Genes that share phenotypes with IFT57: view

Animal Models for IFT57 Gene

MGI Knock Outs for IFT57:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for IFT57 Gene

Localization for IFT57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT57 Gene

Cytoplasm, cytoskeleton, cilium basal body. Note=Concentrates within the inner segment of cilia. {ECO:0000250}.

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 IFT57 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 3
nucleus 3
cytosol 3
golgi apparatus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IBA --
GO:0005813 centrosome IEA,IBA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IBA,TAS --
genes like me logo Genes that share ontologies with IFT57: view

Pathways & Interactions for IFT57 Gene

genes like me logo Genes that share pathways with IFT57: view

Pathways by source for IFT57 Gene

Gene Ontology (GO) - Biological Process for IFT57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0001947 heart looping IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IDA 11788820
genes like me logo Genes that share ontologies with IFT57: view

No data available for SIGNOR curated interactions for IFT57 Gene

Drugs & Compounds for IFT57 Gene

No Compound Related Data Available

Transcripts for IFT57 Gene

mRNA/cDNA for IFT57 Gene

Unigene Clusters for IFT57 Gene

Intraflagellar transport 57 homolog (Chlamydomonas):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT57 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2: - -
SP3:

Relevant External Links for IFT57 Gene

GeneLoc Exon Structure for
IFT57
ECgene alternative splicing isoforms for
IFT57

Expression for IFT57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFT57 Gene

mRNA differential expression in normal tissues according to GTEx for IFT57 Gene

This gene is overexpressed in Testis (x4.8).

Protein differential expression in normal tissues from HIPED for IFT57 Gene

This gene is overexpressed in Testis (35.0), Lung (10.4), and Fetal ovary (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IFT57 Gene



NURSA nuclear receptor signaling pathways regulating expression of IFT57 Gene:

IFT57

SOURCE GeneReport for Unigene cluster for IFT57 Gene:

Hs.412196

mRNA Expression by UniProt/SwissProt for IFT57 Gene:

Q9NWB7-IFT57_HUMAN
Tissue specificity: Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level).

Evidence on tissue expression from TISSUES for IFT57 Gene

  • Lung(4.3)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with IFT57: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT57 Gene

Orthologs for IFT57 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT57 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFT57 34 33
  • 91.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFT57 34 33
  • 90.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ift57 16 34 33
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Ift57 33
  • 87.41 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT57 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT57 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT57 34 33
  • 76.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFT57 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift57 33
  • 75.39 (n)
Str.4503 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16223 33
zebrafish
(Danio rerio)
Actinopterygii ift57 34 33
  • 65.24 (n)
OneToOne
Dr.15138 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008872 33
  • 49.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta Che-13 34 33
  • 47.75 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea che-13 34 33
  • 51.45 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToOne
Species where no ortholog for IFT57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFT57 Gene

ENSEMBL:
Gene Tree for IFT57 (if available)
TreeFam:
Gene Tree for IFT57 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IFT57: view image

Paralogs for IFT57 Gene

Pseudogenes.org Pseudogenes for IFT57 Gene

genes like me logo Genes that share paralogs with IFT57: view

No data available for Paralogs for IFT57 Gene

Variants for IFT57 Gene

Sequence variations from dbSNP and Humsavar for IFT57 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000001123 -- 108,214,895(-) T/C intron_variant
rs1000011441 -- 108,171,937(-) G/A intron_variant
rs1000029312 -- 108,201,721(-) A/G intron_variant
rs1000066187 -- 108,192,736(-) A/G intron_variant
rs1000101273 -- 108,215,647(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IFT57 Gene

Variant ID Type Subtype PubMed ID
esv3307256 CNV mobile element insertion 20981092
esv3307290 CNV mobile element insertion 20981092
esv3309627 CNV mobile element insertion 20981092
esv3362137 CNV insertion 20981092
esv3420987 CNV insertion 20981092
nsv1011158 CNV gain 25217958
nsv1139147 CNV deletion 24896259
nsv829656 CNV loss 17160897
nsv953244 CNV duplication 24416366

Variation tolerance for IFT57 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFT57 Gene

Human Gene Mutation Database (HGMD)
IFT57
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT57

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT57 Gene

Disorders for IFT57 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IFT57 Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IFT57 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFT57

genes like me logo Genes that share disorders with IFT57: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFT57 Gene

Publications for IFT57 Gene

  1. Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. (PMID: 11788820) Gervais FG … Nicholson DW (Nature cell biology 2002) 3 4 22 58
  2. Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo. (PMID: 17173859) Majumder P … Bhattacharyya NP (Biochemical and biophysical research communications 2007) 3 4 58
  3. Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1. (PMID: 17142908) Banerjee M … Sen U (Acta crystallographica. Section F, Structural biology and crystallization communications 2006) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1. (PMID: 12745083) Cheng CM … Yuo CY (Biochemical and biophysical research communications 2003) 3 4 58

Products for IFT57 Gene

Sources for IFT57 Gene

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