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    HDGFL1 HDGF like 1 [ Homo sapiens (human) ]

    Gene ID: 154150, updated on 5-Mar-2024

    Summary

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    Official Symbol
    HDGFL1provided by HGNC
    Official Full Name
    HDGF like 1provided by HGNC
    Primary source
    HGNC:HGNC:21095
    See related
    Ensembl:ENSG00000112273 AllianceGenome:HGNC:21095
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HRP-1; PWWP1; Hdgfrp1; dJ309H15.1
    Summary
    Predicted to enable double-stranded DNA binding activity and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    mouse all
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    Genomic context

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    See HDGFL1 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (22569566..22571666)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (22442013..22444113)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (22569795..22571895)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:22221433-22222281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:22223143-22223644 Neighboring gene NGRN pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:22313984-22314538 Neighboring gene uncharacterized LOC105374971 Neighboring gene prolactin Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:22441843-22443042 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:22443327-22443827 Neighboring gene MPRA-validated peak5731 silencer Neighboring gene uncharacterized LOC105374973 Neighboring gene uncharacterized LOC102724736 Neighboring gene long intergenic non-protein coding RNA 3005

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association study of parity in Bangladeshi women. Aschebrook-Kilfoy B, et al. PLoS One, 2015. PMID 25742292, Free PMC Article
    2. Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations. Ansermet F, et al. J Child Sex Abus, 2010 May. PMID 20509080
    3. Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. Li J, et al. Hum Mol Genet, 2015 Jan 15. PMID 25224454, Free PMC Article
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    hepatoma-derived growth factor-like protein 1
    Names
    HDGF (hepatoma-derived growth factor) like
    PWWP domain containing 1
    PWWP domain-containing protein 1
    hepatoma derived growth factor-like 1
    testicular tissue protein Li 84

    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.

    mRNA and Protein(s)

    1. NM_138574.4 → NP_612641.2  hepatoma-derived growth factor-like protein 1

      See identical proteins and their annotated locations for NP_612641.2

      Status: VALIDATED

      Source sequence(s)
      AL033539
      Consensus CDS
      CCDS34347.1
      UniProtKB/Swiss-Prot
      Q5TGJ6, Q96MJ6
      UniProtKB/TrEMBL
      A0A140VJK8
      Related
      ENSP00000442129.1, ENST00000510882.4
      Conserved Domains (2) summary
      cd05834
      Location:9 → 85
      HDGF_related; The PWWP domain is an essential part of the Hepatoma Derived Growth Factor (HDGF) family of proteins, and is necessary for DNA binding by HDGF. This family of endogenous nuclear-targeted mitogens includes HRP (HDGF-related proteins 1, 2, 3, 4, or HPR1, ...
      PHA00666
      Location:81 → 159
      PHA00666; putative protease

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      22569566..22571666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      22442013..22444113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TGJ6.1 GenPept UniProtKB/Swiss-Prot:Q5TGJ6

    Gene LinkOut

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

    Chemical Information
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