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    HHIPL1 HHIP like 1 [ Homo sapiens (human) ]

    Gene ID: 84439, updated on 3-Apr-2024

    Summary

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    Official Symbol
    HHIPL1provided by HGNC
    Official Full Name
    HHIP like 1provided by HGNC
    Primary source
    HGNC:HGNC:19710
    See related
    Ensembl:ENSG00000182218 AllianceGenome:HGNC:19710
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UNQ9245; KIAA1822
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 2.0), gall bladder (RPKM 0.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q32.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99604538..99680569)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93835981..93912020)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100070875..100146906)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SET domain containing 3, actin N3(tau)-histidine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99968944-99969444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99969445-99969945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99974643-99975198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99977641-99978142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99978143-99978642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99978643-99979643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99988085-99988644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99988645-99989206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99995945-99996467 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99996990-99997512 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99997513-99998033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99999970-100000571 Neighboring gene uncharacterized LOC105370661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100004281-100004872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100003689-100004280 Neighboring gene coiled-coil domain containing 85C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100006217-100006952 Neighboring gene cyclin K Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100011369-100012103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100017717-100018455 Neighboring gene HNF4 motif-containing MPRA enhancer 184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100029329-100030250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100030251-100031170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100033011-100033930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100035771-100036690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100036691-100037611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100037612-100038531 Neighboring gene VISTA enhancer hs1931 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:100045528-100046727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100054779-100055374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100057164-100057760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100064325-100065207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100068739-100069392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6067 Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100090366-100091068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118444-100118944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118945-100119445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100128755-100129256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100129257-100129756 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130377-100130920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130921-100131465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100135414-100135955 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:100136897-100137496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100137497-100138098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100138099-100138698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100141430-100141993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100142557-100143120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100143121-100143683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100174717-100175236 Neighboring gene cytochrome P450 family 46 subfamily A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100197899-100198758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100203867-100204677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100205489-100206299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100215862-100216394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100217886-100218507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100218508-100219128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100221613-100222233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100222234-100222853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100234232-100235190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100235191-100236147 Neighboring gene Sharpr-MPRA regulatory region 11273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100259671-100260502 Neighboring gene EMAP like 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100304941-100305568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100342767-100343319 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:100349991-100350528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100354721-100355374 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100355375-100356028 Neighboring gene Sharpr-MPRA regulatory region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:100405395-100406594 Neighboring gene uncharacterized LOC102724682

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. HHIPL-1 (rs2895811) gene polymorphism is associated with cardiovascular risk factors and cardiometabolic parameters in Mexicans patients with myocardial infarction. Rodríguez-Pérez JM, et al. Gene, 2018 Jul 15. PMID 29655894
    2. HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis. Aravani D, et al. Circulation, 2019 Aug 6. PMID 31163988, Free PMC Article
    3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Schunkert H, et al. Nat Genet, 2011 Mar 6. PMID 21378990, Free PMC Article
    4. 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. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HHIPL1 expression was measured in coronary artery disease-relevant smooth muscle cells.
      Title: HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis.
    2. Results suggest an association of the HHIPL-1 (rs2895811) polymorphism with cardiometabolic parameters and cardiovascular risk factors in Mexican patients with myocardial infarction.
      Title: HHIPL-1 (rs2895811) gene polymorphism is associated with cardiovascular risk factors and cardiometabolic parameters in Mexicans patients with myocardial infarction.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • KIAA1822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    HHIP-like protein 1
    Names
    ARAR9245

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051108.1 RefSeqGene

      Range
      45654..81094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127258.3 → NP_001120730.1  HHIP-like protein 1 isoform a precursor

      See identical proteins and their annotated locations for NP_001120730.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB593096, AL160313
      Consensus CDS
      CCDS45162.1
      UniProtKB/Swiss-Prot
      A2RUF8, B2RN09, Q6UXX2, Q96JK4
      UniProtKB/TrEMBL
      F1T0G2, F1T0G3
      Related
      ENSP00000330601.5, ENST00000330710.10
      Conserved Domains (4) summary
      smart00202
      Location:673 → 776
      SR; Scavenger receptor Cys-rich
      pfam00530
      Location:680 → 776
      SRCR; Scavenger receptor cysteine-rich domain
      pfam03024
      Location:22 → 183
      Folate_rec; Folate receptor family
      pfam07995
      Location:193 → 439
      GSDH; Glucose / Sorbosone dehydrogenase

    2. NM_001329411.2 → NP_001316340.1  HHIP-like protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL160313

    3. NM_032425.5 → NP_115801.3  HHIP-like protein 1 isoform b precursor

      See identical proteins and their annotated locations for NP_115801.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB593097, AY358173, BC132877
      Consensus CDS
      CCDS9953.1
      UniProtKB/Swiss-Prot
      Q96JK4
      UniProtKB/TrEMBL
      F1T0G3
      Related
      ENSP00000349757.2, ENST00000357223.2
      Conserved Domains (2) summary
      pfam03024
      Location:22 → 183
      Folate_rec; Folate receptor family
      cl26817
      Location:193 → 439
      GSDH; Glucose / Sorbosone dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      99604538..99680569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537236.3 → XP_011535538.1  HHIP-like protein 1 isoform X1

      UniProtKB/TrEMBL
      F1T0G2
      Conserved Domains (4) summary
      smart00202
      Location:608 → 711
      SR; Scavenger receptor Cys-rich
      pfam00530
      Location:615 → 711
      SRCR; Scavenger receptor cysteine-rich domain
      pfam03024
      Location:20 → 118
      Folate_rec; Folate receptor family
      pfam07995
      Location:128 → 374
      GSDH; Glucose / Sorbosone dehydrogenase

    2. XM_006720277.4 → XP_006720340.1  HHIP-like protein 1 isoform X2

      UniProtKB/TrEMBL
      F1T0G2
      Conserved Domains (4) summary
      smart00202
      Location:598 → 701
      SR; Scavenger receptor Cys-rich
      pfam00530
      Location:605 → 701
      SRCR; Scavenger receptor cysteine-rich domain
      pfam03024
      Location:11 → 108
      Folate_rec; Folate receptor family
      pfam07995
      Location:118 → 364
      GSDH; Glucose / Sorbosone dehydrogenase

    3. XM_017021707.3 → XP_016877196.1  HHIP-like protein 1 isoform X3

      UniProtKB/TrEMBL
      F1T0G2

    4. XM_011537237.3 → XP_011535539.1  HHIP-like protein 1 isoform X4

      Conserved Domains (2) summary
      pfam03024
      Location:22 → 183
      Folate_rec; Folate receptor family
      pfam07995
      Location:193 → 439
      GSDH; Glucose / Sorbosone dehydrogenase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      93835981..93912020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376812.1 → XP_054232787.1  HHIP-like protein 1 isoform X1

    2. XM_054376813.1 → XP_054232788.1  HHIP-like protein 1 isoform X2

    3. XM_054376814.1 → XP_054232789.1  HHIP-like protein 1 isoform X3

    4. XM_054376815.1 → XP_054232790.1  HHIP-like protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JK4.2 GenPept UniProtKB/Swiss-Prot:Q96JK4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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