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] See more...

Aliases for HHIPL1 Gene

Aliases for HHIPL1 Gene

  • HHIP Like 1 2 3 5
  • KIAA1822 2 3 4
  • HHIP-Like Protein 1 3 4
  • HHIP-Like 1 2
  • ARAR9245 3
  • UNQ9245 3
  • HHIPL1 5
  • 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. Diseases associated with HHIPL1 include Diabetes Mellitus, Insulin-Dependent, 19 and Type 1 Diabetes Mellitus 2. Gene Ontology (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.

Additional gene information for HHIPL1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HHIPL1 Gene

Genomics for HHIPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HHIPL1 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
GH14J099594 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 614.2 -3.8 -3808 12.1 ZNF221 SP1 HNRNPL GATAD2A ZBTB33 TEAD4 PRDM10 ZNF629 TFE3 SIX5 HHIPL1 ENSG00000247970 BEGAIN CCDC85C WARS1 piR-48631 SETD3
GH14J099644 Promoter 1 EPDnew Ensembl 618.7 +40.8 40825 1.4 ATF7 EZH2 CTBP1 KLF4 ATF2 ETS1 JUND HHIPL1 piR-47675-037 CYP46A1 ENSG00000247970
GH14J099682 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.8 +79.5 79525 2.8 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 RFX1 NFKBIZ KDM1A CYP46A1 lnc-CCDC85C-5 HHIPL1 EML1 ENSG00000258672
GH14J100062 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 +465.7 465741 15.2 CEBPG SP1 CTCF ZNF629 LEF1 IKZF1 POLR2A BACH1 JUND ETV6 EVL HHIPL1 MIR342 DEGS2 CYP46A1 VDAC3P1 WARS1 YY1 ENSG00000258560 lnc-EML1-5
GH14J099670 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 25.1 +67.5 67456 3.3 SP1 USF1 MAFK NR2F2 ZFHX2 BCL6 NFE2L2 HNF4A RARA MAFF HHIPL1 piR-47675-037 CYP46A1 lnc-CCDC85C-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HHIPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HHIPL1

Top Transcription factor binding sites by QIAGEN in the HHIPL1 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • CBF(2)
  • CBF-A
  • CP2
  • E47
  • GATA-1
  • HSF2
  • XBP-1

Genomic Locations for HHIPL1 Gene

Genomic Locations for HHIPL1 Gene
chr14:99,604,476-99,680,569
(GRCh38/hg38)
Size:
76,094 bases
Orientation:
Plus strand
chr14:100,111,447-100,146,906
(GRCh37/hg19)
Size:
35,460 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 Asn234
  • Modification sites at PhosphoSitePlus

Other Protein References for HHIPL1 Gene

No data available for DME Specific Peptides for HHIPL1 Gene

Domains & Families for HHIPL1 Gene

Gene Families for HHIPL1 Gene

Protein Domains for HHIPL1 Gene

Suggested Antigen Peptide Sequences for HHIPL1 Gene

GenScript: Design optimal peptide antigens:
  • HHIP-like protein 1 (F1T0G2_HUMAN)
  • HHIP-like protein 1 (F1T0G3_HUMAN)
  • HHIP-like protein 1 (HIPL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JK4

UniProtKB/Swiss-Prot:

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

Function for HHIPL1 Gene

Phenotypes From GWAS Catalog 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 --
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:
  • Hhipl1 Hhipl1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HHIPL1

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
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 HHIPL1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
peroxisome 0
endoplasmic reticulum 0
lysosome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HHIPL1 Gene

Pathways & Interactions for HHIPL1 Gene

PathCards logo

SuperPathways for HHIPL1 Gene

No Data Available

Interacting Proteins for HHIPL1 Gene

Gene Ontology (GO) - Biological Process for HHIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0008150 biological_process ND --
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

Drugs & Compounds for HHIPL1 Gene

No Compound Related Data Available

Transcripts for HHIPL1 Gene

mRNA/cDNA for HHIPL1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HHIPL1

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

No ASD Table

Relevant External Links for HHIPL1 Gene

GeneLoc Exon Structure for
HHIPL1

Expression for HHIPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HHIPL1

SOURCE GeneReport for Unigene cluster for HHIPL1 Gene:

Hs.288522

Evidence on tissue expression from TISSUES for HHIPL1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with HHIPL1: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 96.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HHIPL1 30 31
  • 86.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HHIPL1 30 31
  • 85.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hhipl1 30 17 31
  • 82.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hhipl1 30
  • 82.1 (n)
Oppossum
(Monodelphis domestica)
Mammalia HHIPL1 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HHIPL1 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HHIPL1 30 31
  • 67.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HHIPL1 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hhipl1 30
  • 62.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii hhipl1 30 31
  • 62.14 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G74790 30
  • 44.85 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0639600 30
  • 48.57 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Species where no ortholog for HHIPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HHIPL1: view image

Paralogs for HHIPL1 Gene

Paralogs for HHIPL1 Gene

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

  • HIPL1_HUMAN
  • F1T0G2_HUMAN
  • F1T0G3_HUMAN
genes like me logo Genes that share paralogs with HHIPL1: view

Variants for HHIPL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HHIPL1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs193920989 Uncertain Significance: Malignant tumor of prostate 99,660,375(+) G/C MISSENSE_VARIANT
rs7158073 - p.Val692Ala

Additional dbSNP identifiers (rs#s) for HHIPL1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for HHIPL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 19
  • iddm19
type 1 diabetes mellitus 2
  • diabetes mellitus, insulin-dependent, 2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HHIPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HHIPL1: view

No data available for 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 NJ (Nature genetics 2011) 3 41
  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 HF … Gray A (Genome research 2003) 3 4
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis. (PMID: 31163988) Aravani D … Webb TR (Circulation 2019) 3

Products for HHIPL1 Gene

Sources for HHIPL1 Gene