Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HHIPL1 Gene

Aliases for HHIPL1 Gene

  • HHIP Like 1 2 3 5
  • KIAA1822 2 3 4
  • HHIP-Like Protein 1 3
  • HHIP-Like 1 2
  • ARAR9245 3
  • UNQ9245 3
  • HHIP2 4

External Ids for HHIPL1 Gene

Previous HGNC Symbols for HHIPL1 Gene

  • KIAA1822

Previous GeneCards Identifiers for HHIPL1 Gene

  • GC14P099184
  • GC14P100111
  • GC14P080294

Summaries for HHIPL1 Gene

Entrez Gene Summary for HHIPL1 Gene

  • This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]

GeneCards Summary for HHIPL1 Gene

HHIPL1 (HHIP Like 1) is a Protein Coding gene. GO annotations related to this gene include scavenger receptor activity and oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor. An important paralog of this gene is HHIPL2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHIPL1 Gene

Genomics for HHIPL1 Gene

Regulatory Elements for HHIPL1 Gene

Enhancers for HHIPL1 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
GH14F099670 1.2 FANTOM5 Ensembl ENCODE 25.1 +67.5 67513 2.5 SP5 NR2F2 RARA MBD2 ZFHX2 POLR2A KLF9 HNF4G FOXP2 ZBTB33 HHIPL1 GC14P099668 CYP46A1
GH14F099682 1 ENCODE 12.5 +79.4 79419 2.3 ARID4B SIN3A ZNF2 ZNF143 SP3 SP5 ZHX2 SMARCB1 KAT8 SREBF1 HHIPL1 ENSG00000258672 CYP46A1 GC14P099668
GH14F099546 0.6 Ensembl 11.4 -58.0 -58038 0.4 KLF17 ZIC2 ZFHX2 ARID3A CTBP1 GATA3 PATZ1 SCRT2 FOS PRDM10 HHIPL1 CCDC85C GC14M099518 GC14P099584
GH14F099545 0.6 ENCODE 11.4 -58.6 -58640 0.2 PKNOX1 GATA3 ZNF600 SP7 HHIPL1 GC14M099518 GC14P099584
GH14F099544 0.2 ENCODE 11.4 -59.7 -59655 1.0 HDGF KLF1 RFX1 ZNF687 DPF2 ZNF664 SREBF1 ZFHX2 CTBP1 GATA3 HHIPL1 CCDC85C GC14M099518 GC14P099584
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HHIPL1 on UCSC Golden Path with GeneCards custom track

Promoters for HHIPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001625129 -638 4001 HDGF CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1

Genomic Location for HHIPL1 Gene

Chromosome:
14
Start:
99,604,438 bp from pter
End:
99,680,569 bp from pter
Size:
76,132 bases
Orientation:
Plus strand

Genomic View for HHIPL1 Gene

Genes around HHIPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHIPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHIPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHIPL1 Gene

Proteins for HHIPL1 Gene

  • Protein details for HHIPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JK4-HIPL1_HUMAN
    Recommended name:
    HHIP-like protein 1
    Protein Accession:
    Q96JK4
    Secondary Accessions:
    • A2RUF8
    • B2RN09
    • Q6UXX2

    Protein attributes for HHIPL1 Gene

    Size:
    782 amino acids
    Molecular mass:
    86731 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HHIPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HHIPL1 Gene

Post-translational modifications for HHIPL1 Gene

  • Glycosylation at Asn 234
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HHIPL1 Gene

Domains & Families for HHIPL1 Gene

Suggested Antigen Peptide Sequences for HHIPL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JK4

UniProtKB/Swiss-Prot:

HIPL1_HUMAN :
  • Contains 1 SRCR domain.
  • Belongs to the HHIP family.
Domain:
  • Contains 1 SRCR domain.
Family:
  • Belongs to the HHIP family.
genes like me logo Genes that share domains with HHIPL1: view

No data available for Gene Families for HHIPL1 Gene

Function for HHIPL1 Gene

Gene Ontology (GO) - Molecular Function for HHIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0016901 oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor IEA --
GO:0048038 quinone binding IEA --
genes like me logo Genes that share ontologies with HHIPL1: view
genes like me logo Genes that share phenotypes with HHIPL1: view

Animal Models for HHIPL1 Gene

MGI Knock Outs for HHIPL1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HHIPL1 Gene

Localization for HHIPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHIPL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HHIPL1 Gene COMPARTMENTS Subcellular localization image for HHIPL1 gene
Compartment Confidence
extracellular 4
plasma membrane 3
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HHIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HHIPL1: view

Pathways & Interactions for HHIPL1 Gene

SuperPathways for HHIPL1 Gene

No Data Available

Interacting Proteins for HHIPL1 Gene

Selected Interacting proteins: Q96JK4-HIPL1_HUMAN for HHIPL1 Gene via IID

Symbol External ID(s) Details
HEYL

Gene Ontology (GO) - Biological Process for HHIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0008150 biological_process ND --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HHIPL1: view

No data available for Pathways by source and SIGNOR curated interactions for HHIPL1 Gene

Transcripts for HHIPL1 Gene

mRNA/cDNA for HHIPL1 Gene

Unigene Clusters for HHIPL1 Gene

HHIP-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HHIPL1 Gene

No ASD Table

Relevant External Links for HHIPL1 Gene

GeneLoc Exon Structure for
HHIPL1
ECgene alternative splicing isoforms for
HHIPL1

Expression for HHIPL1 Gene

mRNA expression in normal human tissues for HHIPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HHIPL1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HHIPL1 Gene



Protein tissue co-expression partners for HHIPL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HHIPL1 Gene:

HHIPL1

SOURCE GeneReport for Unigene cluster for HHIPL1 Gene:

Hs.288522
genes like me logo Genes that share expression patterns with HHIPL1: view

Primer Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HHIPL1 Gene

Orthologs for HHIPL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HHIPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HHIPL1 34 35
  • 96.14 (n)
cow
(Bos Taurus)
Mammalia HHIPL1 34 35
  • 86.1 (n)
dog
(Canis familiaris)
Mammalia HHIPL1 34 35
  • 85.82 (n)
mouse
(Mus musculus)
Mammalia Hhipl1 34 16 35
  • 82.4 (n)
rat
(Rattus norvegicus)
Mammalia Hhipl1 34
  • 82.1 (n)
oppossum
(Monodelphis domestica)
Mammalia HHIPL1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHIPL1 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHIPL1 34 35
  • 67.69 (n)
lizard
(Anolis carolinensis)
Reptilia HHIPL1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hhipl1 34
  • 62.35 (n)
zebrafish
(Danio rerio)
Actinopterygii hhipl1 34 35
  • 62.14 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G74790 34
  • 44.85 (n)
rice
(Oryza sativa)
Liliopsida Os12g0639600 34
  • 48.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
Species where no ortholog for HHIPL1 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)
  • 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)
  • 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 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 HHIPL1 Gene

ENSEMBL:
Gene Tree for HHIPL1 (if available)
TreeFam:
Gene Tree for HHIPL1 (if available)

Paralogs for HHIPL1 Gene

Paralogs for HHIPL1 Gene

(5) SIMAP similar genes for HHIPL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HHIPL1: view

Variants for HHIPL1 Gene

Sequence variations from dbSNP and Humsavar for HHIPL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs193920989 Uncertain significance 99,660,375(+) TGAAC(C/G)GCCTC reference, missense
rs10131392 -- 99,628,791(+) CTCAG(C/G)TCTCT intron-variant
rs10132208 -- 99,612,433(+) ACCCA(A/G)AAGAA intron-variant
rs10133513 -- 99,662,735(+) GGATA(G/T)GTAGA intron-variant
rs10135865 -- 99,614,560(+) CCAAG(G/T)CCATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HHIPL1 Gene

Variant ID Type Subtype PubMed ID
esv3635486 CNV gain 21293372
esv3635488 CNV gain 21293372
nsv1046296 CNV gain 25217958
nsv1070235 CNV deletion 25765185
nsv1152321 CNV deletion 26484159
nsv470667 CNV loss 18288195
nsv519710 CNV loss 19592680
nsv565733 CNV gain 21841781
nsv565735 CNV loss 21841781

Variation tolerance for HHIPL1 Gene

Residual Variation Intolerance Score: 8.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HHIPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HHIPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHIPL1 Gene

Disorders for HHIPL1 Gene

Relevant External Links for HHIPL1

Genetic Association Database (GAD)
HHIPL1
Human Genome Epidemiology (HuGE) Navigator
HHIPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHIPL1

No disorders were found for HHIPL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HHIPL1 Gene

Publications for HHIPL1 Gene

  1. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H. … Samani N.J. (Nat. Genet. 2011) 3 46 64
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 3 4 64
  4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3 64
  5. Comparative genomics on HHIP family orthologs. (PMID: 16391842) Katoh Y. … Katoh M. (Int. J. Mol. Med. 2006) 4 64

Products for HHIPL1 Gene

Sources for HHIPL1 Gene

Content
Loading form....