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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HDGFL1 Gene

protein-coding   GIFtS: 41
GCID: GC06P022569

hepatoma derived growth factor-like 1

(Previous name: PWWP domain containing 1 )
(Previous symbol: PWWP1)
 Explore 1 disease affiliated with
HDGFL1 via our new
 Human Malady Compendium 
Biological research products
for HDGFL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hepatoma Derived Growth Factor-Like 11 2     PWWP Domain-Containing Protein 12 3
PWWP11 2 3     HDGF (Hepatoma-Derived Growth Factor) Like2
DJ309H15.11     Hepatoma-Derived Growth Factor-Like Protein 12
PWWP Domain Containing 11 2     

External Ids:    HGNC: 210951   Entrez Gene: 1541502   Ensembl: ENSG000001122737   UniProtKB: Q5TGJ63   

Export aliases for HDGFL1 gene to outside databases

Previous GC identifer: GC06P022678


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HDGFL1 gene promoter:
         Max1   POU2F1   HFH-1   POU2F1a   c-Myb   c-Myc   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHDGFL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HDGFL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HDGFL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.2

HDGFL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HDGFL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P022569:  view genomic region     (about GC identifiers)

Start:
22,569,678 bp from pter      End:
22,571,892 bp from pter
Size:
2,215 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HDGL1_HUMAN, Q5TGJ6 (See protein sequence)
Recommended Name: Hepatoma-derived growth factor-like protein 1  
Size: 251 amino acids; 27234 Da
Secondary accessions: Q96MJ6

Explore the universe of human proteins at neXtProt for HDGFL1: NX_Q5TGJ6

HDGFL1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_612641.2  
ENSEMBL proteins: 
 ENSP00000230012   ENSP00000442129  

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HDGFL1 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR000313 PWWP

Graphical View of Domain Structure for InterPro Entry Q5TGJ6

ProtoNet protein and cluster: Q5TGJ6

1 Blocks protein family: IPB000313 PWWP domain

UniProtKB/Swiss-Prot: HDGL1_HUMAN, Q5TGJ6
Similarity: Belongs to the HDGF family
Similarity: Contains 1 PWWP domain


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HDGFL1

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for HDGFL1 (ENSP000002300124) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
SMAD4ENSP000003415514STRING: ENSP00000341551
About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0034504protein localization to nucleus IEA--
GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


HDGFL1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HDGFL1
Search CenterWatch for drugs/clinical trials and news about HDGFL1 / HDGL1 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HDGFL1 gene: 
NM_138574.2  

Unigene Cluster for HDGFL1:

Hepatoma derived growth factor-like 1
Hs.629246  [show with all ESTs]
Unigene Representative Sequence: AK056824
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000230012(uc003nds.3) ENST00000510882

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SwitchGear 3'UTR luciferase reporter plasmidHDGFL1 3' UTR sequence
Inhib. RNA
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Additional cDNA sequence: 

AK056824.1 AK302110.1 

1 DOTS entry:

DT.306060 

1 AceView cDNA sequence:

CD359616 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HDGFL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGGGAATGC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See HDGFL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HDGFL1

SOURCE GeneReport for Unigene cluster: Hs.629246
    SABiosciences Custom PCR Arrays for HDGFL1
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for HDGFL1 gene from 4/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves HDGF6
--
35(a)
1 → many
Un(6385040-6385844)
lizard
(Anolis carolinensis)
Reptilia HDGF6
--
--
27(a)
2(a)
1 ↔ many
possible ortholog
GL343637.1(55672-61499)
2(105347723-105348226)
fruit fly
(Drosophila melanogaster)
Insecta CG79466
--
12(a)
1 → many
3R(25878236-25880419)
worm
(Caenorhabditis elegans)
Secernentea C06A5.36
--
6(a)
possible ortholog
I(5986494-5990583)


ENSEMBL Gene Tree for HDGFL1 (if available)
TreeFam Gene Tree for HDGFL1 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for HDGFL1 gene
HDGF2  PSIP12  HDGFRP32  HDGFRP22  
4 SIMAP similar genes for HDGFL1 using alignment to 1 protein entry:     HDGL1_HUMAN:
HDGF    HDGFRP2    HDGFRP3    PSIP1

HDGFL1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/64 NCBI SNPs in HDGFL1 are shown (see all 64    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1877058441,2
--22567712(+) TACTGC/TTGTTT 1 -- us2k10--------
rs168864721,2
C,F,--22567724(+) CAGACG/ATAGAT 1 -- us2k15Minor allele frequency- A:0.04NA CSA 264
rs665128591,2
C,--22568016(+) CTAGA-/TTTTTT 1 -- us2k11Minor allele frequency- T:0.00NA 2
rs1492963641,2
--22568139(+) CTATTA/GTGGGC 1 -- us2k10--------
rs1487134391,2
--22568178(+) TTCTA-/TTTC  
 CCCCCCC
CAGCC
1 -- us2k10--------
rs737382571,2
C,--22568214(+) CTTTCC/TCTGTA 1 -- us2k11Minor allele frequency- T:0.50WA 2
rs77664571,2
C,F,H,--22568257(+) TTTGTA/GGCAGG 1 -- us2k126Minor allele frequency- N:0.00NS EA NA WA 2978
rs1393940531,2
--22568282(+) ACGAAA/GTGTTG 1 -- us2k10--------
rs1923267721,2
--22568325(+) TATAAC/TAGATA 1 -- us2k10--------
rs13616971,2
C,F,A,H,--22568534(-) CAGTAA/CAACTC 1 -- us2k1105Minor allele frequency- T:0.00NS EA PA EU CA WA NA CSA 6464

HapMap Linkage Disequilibrium report for HDGFL1 (22569678 - 22571892 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for HDGFL1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HDGFL1 for disorders           About GeneDecksing

1 disease for HDGFL1:    About MalaCards
intellectual disability


Export disorders for HDGFL1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for HDGFL1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HDGFL1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  2. Mild intellectual disability associated with a progen y of father-daughter incest: genetic and environmental considerations. (PubMed id 20509080)1 Ansermet F....Paoloni-Giacobino A. (2010)
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
  5. The monomer-dimer equilibrium of stromal cell-derived factor-1 (CXCL 12) is altered by pH, phosphate, sulfate, and heparin. (PubMed id 15741341)9 Veldkamp C.T....Volkman B.F. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 154150 HGNC: 21095 AceView: PWWP1 Ensembl:ENSG00000112273 euGenes: HUgn154150
ECgene: HDGFL1 H-InvDB: HDGFL1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for HDGFL1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for HDGFL1 gene:
Search GeneIP for patents involving HDGFL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

 
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 SwitchGear Promoter luciferase reporter plasmids for HDGFL1
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HDGFL1
       
GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
(GIFTS: 73)
von Willebrand factor
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