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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ANKHD1-EIF4EBP3 Gene

protein-coding GIFtS: 29
GCID: GC05P139767

ANKHD1-EIF4EBP3 readthrough

Search for ANKHD1-EIF4EBP3
in

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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
ANKHD1-EIF4EBP3 Readthrough¹ ²
MASK-BP3¹ ²
MASK-BP3ARF²
ANKHD1-EIF4EBP3 Protein²
MASK-4E-BP3 Alternate Reading Frame²

External Ids:	HGNC: 33530¹	Entrez Gene: 404734²	Ensembl: ENSG00000254996⁷	UniProtKB: H7C0V5⁴

Export aliases for ANKHD1-EIF4EBP3 gene to outside databases

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

Entrez Gene summary for ANKHD1-EIF4EBP3:

The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and

EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single

KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3

gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined.

(provided by RefSeq, Nov 2009)

(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

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for ANKHD1-EIF4EBP3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANKHD1-EIF4EBP3 promoter sequence

Search SABiosciences Chromatin IP Primers for ANKHD1-EIF4EBP3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKHD1-EIF4EBP3

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

Entrez Gene cytogenetic band: 5q31.3 Ensembl cytogenetic band: 5q31.3 HGNC cytogenetic band: 5q31.3

ANKHD1-EIF4EBP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKHD1-EIF4EBP3 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P139767: view genomic region (about GC identifiers)

Start:	139,781,429 bp from pter	End:	139,929,163 bp from pter
Size:	147,735 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/TrEMBL: H7C0V5 (See protein sequence)

Recommended Name: Protein ANKHD1-EIF4EBP3

Size: 636 amino acids; 66134 Da

Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as

preliminary data

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_H7C0V5

ANKHD1-EIF4EBP3 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_065741.3

ENSEMBL proteins:

ENSP00000432016 ENSP00000396882

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	--	--

ANKHD1-EIF4EBP3 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: H7C0V5

(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

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:0003723	RNA binding	--	--

ANKHD1-EIF4EBP3 for ontologies About GeneDecksing

Animal Models:

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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ANKHD1-EIF4EBP3

(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

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(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,
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About This Section

REFSEQ mRNAs for ANKHD1-EIF4EBP3 gene:

NM_020690.5

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

ENST00000532219 ENST00000474060 ENST00000437495

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24/365 AceView cDNA sequences (see all 365):

CD677511 AI827947 CK299454 BU553036 BU682734 AW026034 AI683970 AF217646

AI523142 BM685869 AK000904 AA831632 AA731151 AF258557 BQ015180 BU955988

CB163696 CB158942 AA968829 BQ189300 AA468583 AA243347 AU143608 AI658864

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

ANKHD1-EIF4EBP3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
Genevestigator expression for ANKHD1-EIF4EBP3
SABiosciences Custom PCR Arrays for ANKHD1-EIF4EBP3

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In Situ
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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 last universal common ancestor (LUCA).

Orthologs for ANKHD1-EIF4EBP3 gene from 8/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Maskbp3⁵ Ankhd1¹	multiple ankyrin repeats single KH domain binding protein more⁵ ankyrin repeat and KH domain containing 1¹	90.71(n)¹ 93.89(a)¹		18 (19.46 cM)⁵ 108857¹ NM_175375.3¹ NP_780584.2¹
chicken (Gallus gallus)	Aves	ANKHD1⁶ --	Uncharacterized protein	87(a) 21(a)	many → 1 possible ortholog	13(1443501-1544367) 8(27119067-27123605)
lizard (Anolis carolinensis)	Reptilia	-- --	--	86(a) 20(a)	many → 1 possible ortholog	4(77930894-78042767) 4(101979115-101980806)
zebrafish (Danio rerio)	Actinopterygii	ankhd1⁶ si:dkey-86e18.2⁶	si:dkey-86e18.2	70(a) 15(a)	many → 1 possible ortholog	21(25801504-25876724) 20(15566002-15570350)
fruit fly (Drosophila melanogaster)	Insecta	mask⁶ nompC⁶ (see all 3)	no mechanoreceptor potential C (see all 3)	26(a) 16(a) (see all 3)	many → 1 possible ortholog (see all 3)	3R(20056284-20075970) 2L(5342321-5365760)
worm (Caenorhabditis elegans)	Secernentea	tag-144⁶ R11A8.7⁶	Temporarily Assigned Gene name family member (tag-... Ankyrin repeat and KH domain-containing protein R1...	5(a) 14(a)	possible ortholog many → 1	IV(11038634-11047401) IV(10374884-10387275)
rice (Oryza sativa)	Liliopsida	--	ankyrin repeat domain-containing protein 50, putat...	23(a)	possible ortholog	3(25568429-25570099)
E. coli (Escherichia coli)	Gamma proteobacteria	yahD⁶	ankyrin repeat protein	21(a)	possible ortholog	Chromosome(334504-335109)

ENSEMBL Gene Tree for ANKHD1-EIF4EBP3 (if available)
TreeFam Gene Tree for ANKHD1-EIF4EBP3 (if available)

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

Paralogs for ANKHD1-EIF4EBP3 gene

TANC2² TNKS2² ANKRD17² ANK3² ANKHD1² ANK1² ANKRD52² TNKS²

ANKRD50² TANC1² INVS² ANKRD28² ANK2² ANKRD44²

2 SIMAP similar genes for ANKHD1-EIF4EBP3 using alignment to 1 protein entry: H7C0V5_HUMAN:

DKFZp586G1024 ANKHD1

ANKHD1-EIF4EBP3 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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150262894^1,2		--	139919986(+)	`GGCTTA/CGTTCC`	1	--	int¹		0	--	--	--	--
rs185556285^1,2		--	139920008(+)	`CATGGA/CGAGTC`	1	--	int¹		0	--	--	--	--
rs138957675^1,2		--	139920150(+)	`TTTTAA/CTATAG`	1	--	int¹		0	--	--	--	--
rs1835958^1,2	C,H	--	139920207(+)	`AAAATG/ATTTGG`	1	--	int¹		5		NS EA	576
rs189303411^1,2		--	139920226(+)	`GAGAAG/TCCAAA`	1	--	int¹		0	--	--	--	--
rs74453298^1,2	F	--	139920240(+)	`CATATC/GAAGGC`	1	--	int¹		1		NA	120
rs1835959^1,2	C,F,O,A,H	--	139920311(+)	`TCTACA/GCTTAT`	1	--	int¹		41		NS EA NA WA CSA	3448
rs181662398^1,2		--	139920347(+)	`TGCCCA/GGGTCC`	1	--	int¹		0	--	--	--	--
rs185813193^1,2		--	139920366(+)	`GGACCA/TCATCA`	1	--	int¹		0	--	--	--	--
rs11746976^1,2	C,H	--	139920965(+)	`CTTTAG/AGATAC`	1	--	int¹		5		NS EA NA	418

HapMap Linkage Disequilibrium report for ANKHD1-EIF4EBP3 (139781429 - 139929163 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ANKHD1-EIF4EBP3: --

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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 ANKHD1-EIF4EBP3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ANKHD1-EIF4EBP3)

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

Characterisation of a new splice variant of MASK-BP3(ARF) and MASK human genes, and their expression patterns during haematopoietic cell differentiation. (PubMed id 16297570)^{1, 3} Santos Duarte A.d.a. . . . . . . . . . . .S....Saad S.T. (2005)
Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK. (PubMed id 14557257)^{1, 3} Poulin F.... Sonenberg N. (2003)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
A human MAP kinase interactome. (PubMed id 20936779)¹ Bandyopadhyay S....Ideker T. (2010)
Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)¹ Prakash T....Taylor T.D. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
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)
A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. (PubMed id 14743216)¹ Bouwmeester T....Superti-Furga G. (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)
Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)¹ Kikuno R....Ohara O. (1999)

(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: 404734	HGNC: 33530	AceView: EIF4EBP3	Ensembl:ENSG00000254996	euGenes: HUgn404734
ECgene: ANKHD1-EIF4EBP3	H-InvDB: ANKHD1-EIF4EBP3

(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 ANKHD1-EIF4EBP3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ANKHD1-EIF4EBP3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ANKHD1-EIF4EBP3 gene:
Search GeneIP for patents involving ANKHD1-EIF4EBP3

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)
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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ANKHD1-EIF4EBP3 Gene

ANKHD1-EIF4EBP3 readthrough

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ANKHD1-EIF4EBP3 Gene

ANKHD1-EIF4EBP3 readthrough

Aliasesfor ANKHD1-EIF4EBP3 gene

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Transcriptsfor ANKHD1-EIF4EBP3 gene

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Orthologsfor ANKHD1-EIF4EBP3 gene

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