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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
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Genomic context

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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

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