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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ASPHD1 Gene

protein-coding GIFtS: 43
GCID: GC16P029911

aspartate beta-hydroxylase domain containing 1

Search for ASPHD1
in

MalaCards

our new
Human Malady Compendium

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

Aliases
Aspartate Beta-Hydroxylase Domain Containing 1¹ ²
Aspartate Beta-Hydroxylase Domain-Containing Protein 1²
EC 1.14.11.-³
EC 1.14.11⁸

External Ids:	HGNC: 27380¹	Entrez Gene: 253982²	Ensembl: ENSG00000174939⁷	UniProtKB: Q5U4P2³

Export aliases for ASPHD1 gene to outside databases

Previous GC identifers: GC16P029820 GC16P029822 GC16P027540

(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_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ASPHD1 gene promoter:
RFX1 MAZR SREBP-1c Lmo2 SREBP-1b CP2 SREBP-1a Hand1 c-Myb Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASPHD1 promoter sequence

Search SABiosciences Chromatin IP Primers for ASPHD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASPHD1

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

Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2

ASPHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASPHD1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P029911: view genomic region (about GC identifiers)

Start:	29,911,696 bp from pter	End:	29,931,185 bp from pter
Size:	19,490 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: ASPH1_HUMAN, Q5U4P2 (See protein sequence)

Recommended Name: Aspartate beta-hydroxylase domain-containing protein 1

Size: 390 amino acids; 41128 Da

Subcellular location: Membrane; Single-pass type II membrane protein (Potential)

Secondary accessions: A0AVE3 B7ZLZ3 Q8IW63 Q8N316 Q96H00

Explore the universe of human proteins at neXtProt for ASPHD1: NX_Q5U4P2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5U4P2

4/5 DME Specific Peptides for ASPHD1 (Q5U4P2) (see all 5)

RCHLGLK

AERQALDF

EDGPRVVF

VDLWHPNVA

ASPHD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_859069.2

ENSEMBL proteins:

ENSP00000460020 ENSP00000459527 ENSP00000311447 ENSP00000388036 ENSP00000456801

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	Uscn Proteins for ASPHD1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030176	integral to endoplasmic reticulum membrane	IEA	--

ASPHD1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ASPHD1

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

ASPHD1 for domains About GeneDecksing

1 InterPro domain/family:

IPR007803 Asp_Arg_b-Hydrxlase

Graphical View of Domain Structure for InterPro Entry Q5U4P2

ProtoNet protein and cluster: Q5U4P2

UniProtKB/Swiss-Prot: ASPH1_HUMAN, Q5U4P2

Similarity: Belongs to the aspartyl/asparaginyl beta-hydroxylase family

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

Enzyme Numbers (IUBMB): EC 1.14.11.-¹ EC 1.14.11²

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	--

ASPHD1 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
Products:

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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 Central^TM Interacting Genes and Proteins Networks for ASPHD1

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0018193	peptidyl-amino acid modification	IEA	--

ASPHD1 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 ASPHD1
Search CenterWatch for drugs/clinical trials and news about ASPHD1 / ASPH1

(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, Sirion Biotech, 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 ASPHD1 gene (2 alternative transcripts):

NM_198907.1 NM_181718.3

Unigene Cluster for ASPHD1:

Aspartate beta-hydroxylase domain containing 1

Hs.655761 [show with all ESTs]

Unigene Representative Sequence: NM_181718

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000563177 ENST00000483405 ENST00000308748(uc002dut.3) ENST00000414952(uc010bzi.2)

ENST00000566693(uc002duu.3)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPHD1
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate ASPHD1:
		hsa-miR-125a-5p hsa-miR-125b hsa-miR-205* hsa-miR-4319
		SwitchGear 3'UTR luciferase reporter plasmid: ASPHD1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPHD1 (see all 3) OriGene siRNA: ASPHD1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPHD1
		Sirion Biotech Custom design and validation of potent shRNA sequences against ASPHD1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPHD1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPHD1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ASPHD1 (NM_181718)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASPHD1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPHD1

Additional cDNA sequence:

BC009033.1 BC029136.1 BC034275.3 BC040933.2 BC085011.1

5 DOTS entries:

DT.423716 DT.91753422 DT.75188722 DT.91691274 DT.120698149

24/51 AceView cDNA sequences (see all 51):

BU193236 AF070642 M62031 BC029136 BM558398 NM_198907 BC040933 BG576268

NM_181718 BF207329 BC009033 BQ575749 BU501805 BG167031 BF527995 BG913387

BG831477 AA909516 BC034275 BE881075 BM558552 AI918131 AA633712 BM808549

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

ASPHD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGCCCTAG

About this image

ASPHD1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ASPHD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ASPHD1

SOURCE GeneReport for Unigene cluster: Hs.655761

SABiosciences Custom PCR Arrays for ASPHD1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPHD1

(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 chordates.

Orthologs for ASPHD1 gene from 2/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ASPHD1⁶	--	52(a)	1 ↔ 1	GL343279.1(46284-49494)
zebrafish (Danio rerio)	Actinopterygii	LOC557921¹	aspartate beta-hydroxylase domain-containing protein more	56.44(n) 56.44(a)		557921 XM_681076.3 XP_686168.3

ENSEMBL Gene Tree for ASPHD1 (if available)
TreeFam Gene Tree for ASPHD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ASPHD1 gene

ASPHD2² ASPH²

2 SIMAP similar genes for ASPHD1 using alignment to 4 protein entries: ASPH1_HUMAN (see all proteins):

ASPHD2 ASPH

ASPHD1 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

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs202164335^1,2		--	29912589(+)	`CTGGGC/GTCCCA`	2	G	syn¹		0	--	--	--	--
rs138090501^1,2	C,F	--	29912633(+)	`TGGGGG/TTGTTC`	2	G V	mis¹		2		NA EU	3723
rs200587819^1,2		--	29912687(+)	`AGGGGG/TTCCTG`	2	G V	mis¹		0	--	--	--	--
rs140411458^1,2	C	--	29912802(+)	`CTCAG-/GGTGGTGG`	1	QGG	cds¹		0	--	--	--	--
rs189379373^1,2	C	--	29912869(+)	`TCCTAC/TCAGAC`	2	P S	mis¹		0	--	--	--	--
rs11648553^1,2	C,H	--	29912902(+)	`CGCGGG/AACGCC`	2	/N /D	mis¹ ese³		3		NS NA	228
rs199832482^1,2		--	29912964(+)	`GACTTC/TGGGGC`	2	F	syn¹		0	--	--	--	--
rs201711586^1,2		--	29913093(+)	`CGCCGA/GTGCCC`	2	R	syn¹		0	--	--	--	--
rs201987338^1,2	F	--	29913147(+)	`GCCAAC/TACCTT`	2	N	syn¹		1		EU	1261
rs200640580^1,2	C	--	29913171(+)	`TTTTCC/TGTTCT`	2	S	syn¹		1		EU	1273

HapMap Linkage Disequilibrium report for ASPHD1 (29911696 - 29931185 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ASPHD1
1 CNV: 35383
1 Indel: 11111

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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

(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 ASPHD1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ASPHD1)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PubMed id 19260139)¹ Polasek O....Rudan I. (2009)
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Large-scale concatenation cDNA sequencing. (PubMed id 9110174)¹ Yu W.... Gibbs R.A. (1997)
A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)¹ Andersson B.... Gibbs R.A. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 253982	HGNC: 27380	AceView: LOC253982	Ensembl:ENSG00000174939	euGenes: HUgn253982
ECgene: ASPHD1	H-InvDB: ASPHD1

(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

Name	Description
PharmGKB entry for ASPHD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ASPHD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ASPHD1 gene:
Search GeneIP for patents involving ASPHD1

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	GenScript Custom overexpressing Cell Line Services for ASPHD1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPHD1

	SwitchGear 3'UTR luciferase reporter plasmids for ASPHD1
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ThermoFisher Antibody for ASPHD1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPHD1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ASPHD1

Sirion Biotech Customized:

	stable knockdown cell line services for ASPHD1
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	design and validation of potent shRNA sequences against ASPHD1
	adenovirus for potent knockdown of ASPHD1
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	stable overexpressing cell line services for ASPHD1
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ASPHD1 gene at Home site.

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ASPHD1 Gene

aspartate beta-hydroxylase domain containing 1

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Export list of displayed genes

ASPHD1 Gene

aspartate beta-hydroxylase domain containing 1

Aliasesfor ASPHD1 gene

Summariesfor ASPHD1 gene

Genomic Viewsfor ASPHD1 gene

Proteinsfor ASPHD1 gene

Protein Domains /Familiesfor ASPHD1 gene

Functionfor ASPHD1 gene

Pathways & Interactionsfor ASPHD1 gene

Drugs & Compoundsfor ASPHD1 gene

Transcriptsfor ASPHD1 gene

Expression for ASPHD1 gene

Orthologsfor ASPHD1 gene

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Genomic Variantsfor ASPHD1 gene

Disorders / Diseasesfor ASPHD1 gene

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Genome Databases showing ASPHD1 gene

Other Databases showing ASPHD1 gene

Specialized Databases showing ASPHD1 gene

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for ASPHD1 gene

Summaries
for ASPHD1 gene

Genomic Views
for ASPHD1 gene

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for ASPHD1 gene

Protein Domains /
Families
for ASPHD1 gene

Function
for ASPHD1 gene

Pathways & Interactions
for ASPHD1 gene

Drugs & Compounds
for ASPHD1 gene

Transcripts
for ASPHD1 gene

Expression
for ASPHD1 gene

Orthologs
for ASPHD1 gene

Paralogs
for ASPHD1 gene

Genomic Variants
for ASPHD1 gene

Disorders / Diseases
for ASPHD1 gene

Publications
for ASPHD1 gene

Intellectual Property
for ASPHD1 gene

Products
for ASPHD1 gene