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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IGFLR1 Gene

protein-coding GIFtS: 41
GCID: GC19M036361

IGF-like family receptor 1

(Previous names: U2(RNU2) small nuclear RNA auxiliary factor 1-like 4, transmembrane...)
(Previous symbols: U2AF1L4, TMEM149)

Explore 1 disease affiliated with
IGFLR1 via

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
IGF-Like Family Receptor 1¹ ²		U2(RNU2) Small Nuclear RNA Auxiliary Factor 1-Like 4¹ ²
Transmembrane Protein 149¹ ² ³		U2 Small Nuclear RNA Auxiliary Factor 1-Like 4² ³
TMEM149¹ ² ³		FLJ22573¹
U2AF1L4¹ ² ³

External Ids:	HGNC: 23620¹	Entrez Gene: 79713²	Ensembl: ENSG00000126246⁷	OMIM: 614143⁵	UniProtKB: Q9H665³

Export aliases for IGFLR1 gene to outside databases

Previous GC identifer: GC19M036231

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

UniProtKB/Swiss-Prot: IGFR1_HUMAN, Q9H665

Function: Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher

affinity. May also bind IGFL2

(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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for IGFLR1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IGFLR1 promoter sequence

Search SABiosciences Chromatin IP Primers for IGFLR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGFLR1

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

Entrez Gene cytogenetic band: 19q13.12 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.12

IGFLR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGFLR1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M036361: view genomic region (about GC identifiers)

Start:	36,230,058 bp from pter	End:	36,233,354 bp from pter
Size:	3,297 bases	Orientation:	minus 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: IGFR1_HUMAN, Q9H665 (See protein sequence)

Recommended Name: IGF-like family receptor 1 precursor

Size: 355 amino acids; 37895 Da

Subcellular location: Cell membrane; Single-pass type I membrane protein

Secondary accessions: Q8N5X0

Alternative splicing: 2 isoforms: Q9H665-1 Q9H665-2

Explore the universe of human proteins at neXtProt for IGFLR1: NX_Q9H665

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H665

IGFLR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_078936.1

ENSEMBL proteins:

ENSP00000467750 ENSP00000465962 ENSP00000246532 ENSP00000466181 ENSP00000468545

ENSP00000468644 ENSP00000467842 ENSP00000340719

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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:0005886	plasma membrane	IDA	--
GO:0016021	integral to membrane	IEA	--

IGFLR1 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

IGFLR1 for domains About GeneDecksing

1 InterPro domain/family:

IPR011029 DEATH-like_dom

Graphical View of Domain Structure for InterPro Entry Q9H665

ProtoNet protein and cluster: Q9H665

(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

Function Summary:

UniProtKB/Swiss-Prot: IGFR1_HUMAN, Q9H665

Function: Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher

affinity. May also bind IGFL2

Induction: Up-regulated by the proinflammatory cytokine TNFA and in skin upon tissue inflammation

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In Situ Assay
Products:

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005515	protein binding	IPI	--

IGFLR1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Igflr1^tm1Lex for IGFLR1
     1 MGI phenotypic allele

for Igflr1 (no phenotypes)

IGFLR1 for phenotypes About GeneDecksing

(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 IGFLR1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for IGFLR1 (Q9H665¹ ENSP00000246532⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IGFL1	Q6UW32¹, ENSP00000415823⁴	EBI-3870439,EBI-3870426 STRING: ENSP00000415823
IGFL3	ENSP00000344860⁴	STRING: ENSP00000344860
IGFL2	ENSP00000395219⁴	STRING: ENSP00000395219

About this table

(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 IGFLR1
Search CenterWatch for drugs/clinical trials and news about IGFLR1 / IGFR1

(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,
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About This Section

REFSEQ mRNAs for IGFLR1 gene:

NM_024660.2

Unigene Cluster for IGFLR1:

IGF-like family receptor 1

Hs.352548 [show with all ESTs]

Unigene Representative Sequence: AK026226

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

ENST00000592889 ENST00000588992 ENST00000246532(uc002obc.3 uc010xsy.2 uc002obd.4 uc010eej.3)

ENST00000592537 ENST00000588018 ENST00000591748 ENST00000592693 ENST00000587101

ENST00000591277 ENST00000589175 ENST00000586140 ENST00000344990(uc002obb.3)

miRNA Products:		OriGene 3'-UTR Clone: IGFLR1 Browse OriGene MicroRNA Expression Plasmids
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Additional cDNA sequence:

AK026226.1 BC031329.1 BC126481.1 BC126483.1 BC144205.1

11 DOTS entries:

DT.422019 DT.100752190 DT.100752191 DT.444864 DT.92441204 DT.92441214 DT.75136776 DT.75162308

DT.100752189 DT.121488778 DT.121488807

24/175 AceView cDNA sequences (see all 175):

BQ882427 BC010865 AI597639 AK026226 AI311085 BC049208 BU621457 AI205252

BU735432 AI498787 CD367166 BU608847 BE910002 CD742777 BM695629 AI921582

BQ010545 AI925610 AX775837 BX337984 NM_024660 CD742768 BF445882 BI838452

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for IGFLR1 (see all 12) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	·	2g	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	·	6d
SP1:			-		-								-		-		-
SP2:			-		-								-		-		-		-		-		-		-		-
SP3:			-		-								-		-		-
SP4:													-		-		-
SP5:															-		-		-		-		-

ECgene alternative splicing isoforms for IGFLR1

(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

IGFLR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCACTACTCG

About this image

IGFLR1 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)

Bone

Mandibular Fossa

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IGFLR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IGFLR1

SOURCE GeneReport for Unigene cluster: Hs.352548

SABiosciences Custom PCR Arrays for IGFLR1

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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 chordates.

Orthologs for IGFLR1 gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Igflr1⁵ Tmem149¹	transmembrane protein 149^{1, 5}	66.47(n)¹ 60.77(a)¹		7 (18.62 cM)⁵ 101883¹ NM_145580.2¹ NP_663555.2¹ 30565427⁵
zebrafish (Danio rerio)	Actinopterygii	LOC793825¹	transmembrane protein 149-like	38.8(n) 29.65(a)		793825 XM_001333625.2 XP_001333661.1

ENSEMBL Gene Tree for IGFLR1 (if available)
TreeFam Gene Tree for IGFLR1 (if available)

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

Paralogs for IGFLR1 gene

IGFLR1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for IGFLR1
PGOHUM00000247831

(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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140797969^1,2	C	--	36230378(+)	`AGGCAG/TCCCAT`	2	M L	mis¹		1		NA	4492
rs147295574^1,2	C,F,	--	36230423(+)	`CATACC/ACCCAC`	2	/G /C	mis¹		2		NA EU	5387
rs138397992^1,2	C,F	--	36230444(+)	`CTCAGG/CGTCCA`	2	/P /A	mis¹		2		NA EU	5555
rs143428422^1,2	F	--	36230480(+)	`CTCCAG/TCTCAT`	2	M L	mis¹		1		NA	4466
rs200487496^1,2		--	36230500(+)	`GAGACA/TGGGGT`	2	Q L	mis¹		0	--	--	--	--
rs200022475^1,2		--	36230527(+)	`ACAGTA/TCTGGA`	2	E V	mis¹		0	--	--	--	--
rs147205513^1,2	C,F,	--	36230675(+)	`CCTGGG/AGAGGA`	2	/S	syn¹		1		NA	3748
rs140499475^1,2	C,F,	--	36230677(+)	`TGGGGA/GGGACA`	2	P S	mis¹		2		NA EU	5097
rs191751735^1,2	C,	--	36230687(+)	`AGATGC/TGAGGA`	2	S	syn¹		0	--	--	--	--
rs141911463^1,2	C,F	--	36230740(+)	`ATAGGG/AATAGG`	2	/P /S	mis¹		2		NA EU	5743

HapMap Linkage Disequilibrium report for IGFLR1 (36230058 - 36233354 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for IGFLR1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGFLR1

DNA2.0 Custom Variant and Variant Library Synthesis for IGFLR1

(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

IGFLR1 for disorders           About GeneDecksing

OMIM gene information: 614143    OMIM disorders: --

1 disease for IGFLR1:    About MalaCards

skin conditions

Export disorders for IGFLR1 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 IGFLR1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with IGFLR1)

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

Murine IGFL and human IGFL1 are induced in inflammatory skin conditions and bind to a novel TNF receptor family member, IGFLR1. (PubMed id 21454693)^{1, 2, 3} Lobito A.A.... Gonzalez L.C. (2011)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)² Grimwood J.... Lucas S.M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (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)

(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: 79713	HGNC: 23620	AceView: FLJ22573andU2AF1L3	Ensembl:ENSG00000126246	euGenes: HUgn79713
ECgene: IGFLR1	H-InvDB: IGFLR1

(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 IGFLR1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IGFLR1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for IGFLR1 gene:
Search GeneIP for patents involving IGFLR1

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGFLR1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 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 IGFLR1 gene at Home site.

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IGFLR1 Gene

IGF-like family receptor 1

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Export list of displayed genes

IGFLR1 Gene

IGF-like family receptor 1

Aliasesfor IGFLR1 gene

Summariesfor IGFLR1 gene

Genomic Viewsfor IGFLR1 gene

Proteinsfor IGFLR1 gene

Protein Domains /Familiesfor IGFLR1 gene

Functionfor IGFLR1 gene

Pathways & Interactionsfor IGFLR1 gene

Drugs & Compoundsfor IGFLR1 gene

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Genome Databases showing IGFLR1 gene

Other Databases showing IGFLR1 gene

Specialized Databases showing IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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for IGFLR1 gene

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