Aliases for HHIPL1 Gene
Aliases for HHIPL1 Gene
External Ids for HHIPL1 Gene
- HGNC: 19710
- Entrez Gene: 84439
- Ensembl: ENSG00000182218
- UniProtKB: Q96JK4
Previous HGNC Symbols for HHIPL1 Gene
- KIAA1822
Previous GeneCards Identifiers for HHIPL1 Gene
- GC14P099184
- GC14P100111
- GC14P080294
Summaries 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 CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HHIPL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 14q32.2 by Ensembl
- 14q32.2 by Entrez Gene
- 14q32 by HGNC
HHIPL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A2RUF8
- B2RN09
- Q6UXX2
Protein attributes for HHIPL1 Gene
- Size:
- 782 amino acids
- Molecular mass:
- 86731 Da
- Quaternary structure:
- No Data Available
Protein Expression for HHIPL1 Gene
Post-translational modifications for HHIPL1 Gene
Other Protein References for HHIPL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HHIPL1
- Novus Biologicals Antibodies for HHIPL1
- Invitrogen Antibodies for HHIPL1
- GeneTex HHIPL1 antibody for HHIPL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HHIPL1
Protein Products
-
OriGene Purified Proteins for HHIPL1
- Search Origene for MassSpec and Protein Over-expression Lysates for HHIPL1
- Origene Custom Protein Services for HHIPL1
- Search GeneTex for Proteins for HHIPL1
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HHIPL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96JK4- Family:
-
- Belongs to the HHIP family.
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 | -- |
Phenotypes for HHIPL1 Gene
- MGI mutant phenotypes for HHIPL1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HHIPL1:
Animal Models for HHIPL1 Gene
- MGI Knock Outs for HHIPL1:
-
- Hhipl1 tm1b(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HHIPL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIPL1 gene
- Search ViGene Biosciences for HHIPL1
CRISPR Products
-
OriGene CRISPR knockouts for HHIPL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HHIPL1
- GenScript: Design CRISPR guide RNA sequences for HHIPL1
miRNA for HHIPL1 Gene
- miRTarBase miRNAs that target HHIPL1
-
- hsa-mir-3650 (MIRT475681)
- hsa-mir-6801-5p (MIRT475683)
- hsa-mir-650 (MIRT475684)
- hsa-mir-3612 (MIRT475685)
- hsa-mir-873-5p (MIRT475686)
- hsa-mir-1827 (MIRT475687)
- hsa-mir-4756-3p (MIRT475688)
- hsa-mir-940 (MIRT475689)
- hsa-mir-6893-5p (MIRT475690)
- hsa-mir-6808-5p (MIRT475691)
- hsa-mir-4695-5p (MIRT475692)
- hsa-mir-6758-5p (MIRT475693)
- hsa-mir-6856-5p (MIRT475694)
- hsa-mir-4796-3p (MIRT475695)
- hsa-mir-30d-5p (MIRT475696)
- hsa-mir-30c-5p (MIRT475697)
- hsa-mir-30a-5p (MIRT475698)
- hsa-mir-30e-5p (MIRT475699)
- hsa-mir-30b-5p (MIRT475700)
- hsa-mir-2681-5p (MIRT641067)
- hsa-mir-3667-3p (MIRT641068)
- hsa-mir-6734-3p (MIRT641069)
- hsa-mir-885-5p (MIRT641070)
- hsa-mir-501-5p (MIRT641071)
- hsa-mir-500b-5p (MIRT641072)
- hsa-mir-362-5p (MIRT641073)
- hsa-mir-5003-3p (MIRT641074)
- hsa-mir-6881-3p (MIRT647351)
- hsa-mir-6780a-3p (MIRT647352)
- hsa-mir-7111-3p (MIRT647353)
- hsa-mir-891b (MIRT647354)
- hsa-mir-627-3p (MIRT647355)
- hsa-mir-877-3p (MIRT647356)
miRNA Products
- Search ViGene Biosciences for HHIPL1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HHIPL1
- Browse OriGene Inhibitory RNA Products For HHIPL1
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIPL1 gene
Cell Line Products
-
Horizon Cell Lines for HHIPL1
-
ViGene Biosciences adenoviral particle packaged cDNA for HHIPL1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HHIPL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIPL1 gene
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.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| plasma membrane | 3 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
| GO:0005576 | extracellular region | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for HHIPL1 Gene
No Data Available
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for HHIPL1 Gene
Transcripts for HHIPL1 Gene
mRNA/cDNA for HHIPL1 Gene
- (8) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (16) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HHIPL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HHIPL1
- GenScript: Design CRISPR guide RNA sequences for HHIPL1
miRNA Products
- Search ViGene Biosciences for HHIPL1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HHIPL1
- Browse OriGene Inhibitory RNA Products For HHIPL1
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIPL1 gene
Flow Cytometry Products
Expression for HHIPL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
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, PaxDb, and MOPED for HHIPL1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HHIPL1 Gene:
HHIPL1SOURCE GeneReport for Unigene cluster for HHIPL1 Gene:
Hs.288522Evidence on tissue expression from TISSUES for HHIPL1 Gene
- Nervous system(4.1)
Primer Products
-
OriGene qPCR primer pairs for HHIPL1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HHIPL1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HHIPL1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HHIPL1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hhipl1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hhipl1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HHIPL1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HHIPL1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HHIPL1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HHIPL1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hhipl1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hhipl1 34 35 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G74790 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os12g0639600 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for HHIPL1 Gene
(5) SIMAP similar genes for HHIPL1 Gene using alignment to 3 proteins:
Variants 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 | |
| rs1000010381 | -- | 99,620,338(+) | GCCCC(C/T)GGCCT | intron-variant | |
| rs1000087685 | -- | 99,607,919(+) | AATGG(A/G)AATAT | intron-variant | |
| rs1000178043 | -- | 99,616,857(+) | AAGGA(C/T)CAGCC | intron-variant | |
| rs1000293221 | -- | 99,625,171(+) | TGGGC(A/G)CCATC | intron-variant |
| 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 |
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
No disorders were found for HHIPL1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HHIPL1 Gene
Publications for HHIPL1 Gene
- 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
- 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
- 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
- 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
- Comparative genomics on HHIP family orthologs. (PMID: 16391842) Katoh Y. … Katoh M. (Int. J. Mol. Med. 2006) 4 64
Products for HHIPL1 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for HHIPL1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HHIPL1
- Search Origene for MassSpec and Protein Over-expression Lysates for HHIPL1
- Origene Custom Protein Services for HHIPL1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HHIPL1
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- OriGene qPCR primer pairs for HHIPL1
- OriGene CRISPR knockouts for HHIPL1
- OriGene ORF clones in human for HHIPL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for HHIPL1 in any vector
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- GenScript Custom overexpressing Cell Line Services for HHIPL1
- GenScript: Design CRISPR guide RNA sequences for HHIPL1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for HHIPL1
- Novus Biologicals proteins and lysates for HHIPL1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ViGene Biosciences adenoviral particle packaged cDNA for HHIPL1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HHIPL1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HHIPL1 gene
- Search ViGene Biosciences for HHIPL1
- Santa Cruz Biotechnology (SCBT) Antibodies for HHIPL1
- Search Santa Cruz Biotechnology (SCBT) for HHIPL1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HHIPL1
- Horizon Cell Lines for HHIPL1
- Cyagen custom Knockout/knockin (KOKI) mouse models for HHIPL1
- VectorBuilder custom plasmid, inducible vectors for HHIPL1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HHIPL1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HHIPL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer