Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IGSF1 Gene

protein-coding GIFtS: 57
GCID: GC0XM130407

immunoglobulin superfamily, member 1

Explore 3 diseases affiliated with
IGSF1 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
Immunoglobulin Superfamily, Member 1¹ ²		Pituitary Gland-Specific Factor 2² ³
IGDC1¹ ² ³ ⁵		P120¹
PGSF2¹ ² ³		MGC75490¹
IGCD1¹ ²		CHTE²
INHBP¹ ²		Immunoglobulin Superfamily Member 1²
KIAA0364¹ ³		IgSF1³
Immunoglobulin-Like Domain-Containing Protein 1² ³		InhBP³
Inhibin-Binding Protein² ³

External Ids:	HGNC: 5948¹	Entrez Gene: 3547²	Ensembl: ENSG00000147255⁷	OMIM: 300137⁵	UniProtKB: Q8N6C5³

Export aliases for IGSF1 gene to outside databases

Previous GC identifers: GC0XM125053 GC0XM127253 GC0XM128352 GC0XM129113 GC0XM130133 GC0XM130235 GC0XM119813

(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 IGSF1:

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily

contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of

interactions between cells. Multiple transcript variants encoding different isoforms have been found for this

gene.(provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5

Function: Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor.

Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a

specific antagonistic effect of inhibin B on activin-stimulated transcription

Gene Wiki entry for IGSF1

(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_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IGSF1 gene promoter:
COUP-TF1 MyoD COUP HNF-4alpha2 Nkx2-5 NF-kappaB HNF-4alpha1 MZF-1 COUP-TF NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IGSF1 promoter sequence

Search SABiosciences Chromatin IP Primers for IGSF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGSF1

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

Entrez Gene cytogenetic band: Xq25 Ensembl cytogenetic band: Xq26.2 HGNC cytogenetic band: Xq25

IGSF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGSF1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM130407: view genomic region (about GC identifiers)

Start:	130,407,480 bp from pter	End:	130,533,677 bp from pter
Size:	126,198 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: IGSF1_HUMAN, Q8N6C5 (See protein sequence)

Recommended Name: Immunoglobulin superfamily member 1 precursor

Size: 1336 amino acids; 148936 Da

Subunit: Interacts with INHA (By similarity). In PubMed:12385827 does not interact with INHA; standard receptor binding

assay. Interacts with ACVR1B; the interaction appears to be ligand-dependent as it is diminished by inhibin B and

activin A. Interacts with ACVR2A, ACVR2B, ACVRL1 and BMPR1B. Interacts with HECTD1

Subcellular location: Isoform 1: Membrane; Multi-pass membrane protein (Potential)

Subcellular location: Isoform 2: Membrane; Multi-pass membrane protein (Potential)

Subcellular location: Isoform 3: Secreted (Potential)

Caution: It is uncertain whether Met-1 or Met-12 is the initiator

Secondary accessions: B5MEG2 H9KV64 O15070 Q9NTC8

Alternative splicing: 4 isoforms: Q8N6C5-1 Q8N6C5-2 Q8N6C5-3 Q8N6C5-4

Explore the universe of human proteins at neXtProt for IGSF1: NX_Q8N6C5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N6C5

IGSF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001164432.1 NP_001164433.1 NP_001164434.1 NP_001546.2 NP_991402.1

ENSEMBL proteins:

ENSP00000359947 ENSP00000355010 ENSP00000359941 ENSP00000359938 ENSP00000359937

ENSP00000359940

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for IGSF1
	GenScript Custom Purified and Recombinant Proteins Services for IGSF1
	Novus Biologicals IGSF1 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for IGSF1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0016020	membrane	IDA	11266516
GO:0016021	integral to membrane	IEA	--

IGSF1 for ontologies About GeneDecksing

IGSF1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for IGSF1
	GenScript Custom Superior Antibodies Services for IGSF1
	Novus Biologicals IGSF1 Antibodies
	Search for Antibodies for IGSF1 at Abcam
	Uscn Antibodies for IGSF1
	ThermoFisher Antibodies for IGSF1

Assay Products for IGSF1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for IGSF1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for IGSF1

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

IGSF1 for domains About GeneDecksing

4 InterPro domains/families:

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR013783 Ig-like_fold

IPR003599 Ig_sub

Graphical View of Domain Structure for InterPro Entry Q8N6C5

ProtoNet protein and cluster: Q8N6C5

1 Blocks protein family: IPB003599 Immunoglobulin subtype

UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5

Similarity: Contains 12 Ig-like C2-type (immunoglobulin-like) domains

(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: IGSF1_HUMAN, Q8N6C5

Function: Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor.

Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a

specific antagonistic effect of inhibin B on activin-stimulated transcription

Genatlas biochemistry entry for IGSF1:

immunoglobulin superfamily gene 1,highly expressed in adult testis and fetal liver,with a smaller alternate form

expressed in adult heart,potentially involved in cell-surface recognition or cell-cell interaction

miRNA Products:		OriGene 3'-UTR Clone (see all 2): IGSF1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGSF1
		8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate IGSF1 (see all 44):
		hsa-let-7d hsa-miR-146a hsa-miR-29a hsa-miR-449a hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-3116

		SwitchGear 3'UTR luciferase reporter plasmid: IGSF1 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 IGSF1 (see all 7) OriGene shRNA RFP: IGSF1 OriGene siRNA: IGSF1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IGSF1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for IGSF1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IGSF1 (see all 10) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IGSF1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): IGSF1 (NM_205833)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGSF1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGSF1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IGSF1
		Search LifeMap BioReagents cell lines for IGSF1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IDA	11266516
GO:0005515	protein binding	IPI	12421765
GO:0015026	coreceptor activity	--	--
GO:0034711	inhibin binding	IDA	11266516

IGSF1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for IGSF1:

Decreased influenza A/WSN/33 r

Animal Models:
Mouse knock-out Igsf1^tm1Zuk for IGSF1
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Igsf1):

normal

IGSF1 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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signal transduction Activin A signaling regulation

Signal transduction Activin A signaling regulation

1.00

Signal transduction_Activin A signaling regulation

0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for IGSF1

Signal transduction Activin A signaling regulation

1 GeneGo (Thomson Reuters) Pathway for IGSF1

Signal transduction Activin A signaling regulation

IGSF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IGSF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/12 Interacting proteins for IGSF1 (Q8N6C5³ ENSP00000355010⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HECTD1	Q9ULT8³, ENSP00000382269⁴	I2D: score=3 STRING: ENSP00000382269
RANBP10	Q6VN20³, ENSP00000316589⁴	I2D: score=3 STRING: ENSP00000316589
IGF1	P05019³, ENSP00000302665⁴	I2D: score=2 STRING: ENSP00000302665
ACVR1	Q04771³, ENSP00000263640⁴	I2D: score=1 STRING: ENSP00000263640
ACVR1B	P36896³, ENSP00000257963⁴	I2D: score=1 STRING: ENSP00000257963

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	IDA	11266516
GO:0007165	signal transduction	IDA	11266516

IGSF1 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 IGSF1
Search CenterWatch for drugs/clinical trials and news about IGSF1

(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 IGSF1 gene (5 alternative transcripts):

NM_001170961.1 NM_001170962.1 NM_001170963.1 NM_001555.4 NM_205833.3

Unigene Cluster for IGSF1:

Immunoglobulin superfamily, member 1

Hs.22111 [show with all ESTs]

Unigene Representative Sequence: NM_001170961

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

ENST00000370910 ENST00000361420 ENST00000370904(uc004ewf.2) ENST00000467244

ENST00000469836 ENST00000370901(uc004ewg.3) ENST00000370900(uc022cdw.1)

ENST00000370903(uc004ewd.3 uc004ewe.4 uc022cdv.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): IGSF1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGSF1
		8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate IGSF1 (see all 44):
		hsa-let-7d hsa-miR-146a hsa-miR-29a hsa-miR-449a hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-3116

		SwitchGear 3'UTR luciferase reporter plasmid: IGSF1 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 IGSF1 (see all 7) OriGene shRNA RFP: IGSF1 OriGene siRNA: IGSF1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IGSF1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IGSF1 (see all 10) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IGSF1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): IGSF1 (NM_205833)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGSF1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGSF1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IGSF1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat IGSF1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IGSF1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGSF1

Additional cDNA sequence:

AB058894.2 AF034198.1 AK057916.1 AK226008.1 AK295438.1 AK307871.1 AL137369.1 BC028312.1

BC063884.1 Y10523.1

7 DOTS entries:

DT.95351575 DT.92421077 DT.215108 DT.101958623 DT.121318277 DT.95368130 DT.121318244

24/124 AceView cDNA sequences (see all 124):

BM263194 CR614008 AI222369 AL079599 BM709390 BU070763 AF034198 BQ071925

NM_001555 AA469974 BC063884 CD108169 AA780028 AW952896 CD238797 CD251252

R93268 BX091522 AI022167 CD109006 AA421089 H83236 AL137369 AA442553

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for IGSF1 (see all 7) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15a	·	15b	·	15c	^	16	^	17a	·	17b	^	18	^
SP1:									-		-								-												-				-
SP2:			-
SP3:																																			-
SP4:
SP5:

ExUns:	19a	·	19b	^	20	^	21	^	22
SP1:
SP2:
SP3:
SP4:
SP5:	-

ECgene alternative splicing isoforms for IGSF1

(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

IGSF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATTCTATT

About this image

IGSF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IGSF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IGSF1

SOURCE GeneReport for Unigene cluster: Hs.22111

UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5

Tissue specificity: Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and

small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed

in muscle. Isoform 3 is expressed in pituitary gland

SABiosciences Custom PCR Arrays for IGSF1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IGSF1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat IGSF1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IGSF1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGSF1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF1

(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 IGSF1 gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	IGSF1¹	immunoglobulin superfamily, member 1	44.42(n) 31.3(a)		419114 NM_001145226.2 NP_001138698.2
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	25(a) 23(a) (see all 3)	many ↔ many many ↔ many (see all 3)	GL343329.1(1231914-1234163) GL343329.1(823590-844642)

ENSEMBL Gene Tree for IGSF1 (if available)
TreeFam Gene Tree for IGSF1 (if available)

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

Paralogs for IGSF1 gene

KIR2DL4² LILRB4² LILRB1² LILRA6² LILRA5² KIR3DL1² OSCAR² NCR1²

LILRA4² ENSG00000217792² TARM1² KIR3DX1² LILRA3² LILRB5² LILRA1² KIR3DL3²

KIR2DL1² A1BG² LILRB2² KIR2DL2² LILRA2² KIR3DL2² KIR2DL3² FCAR²

LILRB3² GP6²

6 SIMAP similar genes for IGSF1 using alignment to 1 protein entry: IGSF1_HUMAN:

KIR2DS4 LILRA3 KIR-K36 KIR-K78 KIR-K9 KIR412

IGSF1 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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201474150^1,2		--	130407178(+)	`CAAAC-/GTAACA`	3	--	ds500¹		0	--	--	--	--
rs6637825^1,2	C,F,H,	--	130407300(+)	`AGTGAT/CTATGT`	3	--	ds500¹		24		NS EA NA WA CSA	2543
rs140992019^1,2		--	130407546(+)	`CATGCA/GCCAGT`	3	--	ut3¹		0	--	--	--	--
rs190274877^1,2		--	130407589(+)	`GAACCA/TCTCTT`	3	--	ut3¹		0	--	--	--	--
rs141597908^1,2	F	--	130407834(+)	`CAGGGG/ATGCCT`	6	/T /I	mis¹		1		NA	4552
rs144820701^1,2	C,	--	130407863(+)	`CACTCG/TTCAAG`	6	E D	mis¹		0	--	--	--	--
rs150776874^1,2	F	--	130407875(+)	`GCAATG/CGTCTG`	6	/T	syn¹		1		NA	4552
rs45609931^1,2	C,	--	130408030(+)	`CAGAAG/TGGGGC`	3	--	int¹		0	--	--	--	--
rs149959109^1,2	F	--	130408086(+)	`TTCCAC/GTCTAT`	6	D E	mis¹		1		NA	4552
rs145132607^1,2	F	--	130408137(+)	`AGGCTA/GCTTCG`	6	S	syn¹		1		NA	4552

HapMap Linkage Disequilibrium report for IGSF1 (130407480 - 130533677 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for IGSF1: --
Locus Specific Mutation Databases (LSDB): IGSF1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGSF1

DNA2.0 Custom Variant and Variant Library Synthesis for IGSF1

(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

IGSF1 for disorders           About GeneDecksing

OMIM gene information: 300137    OMIM disorders: --

3 diseases for IGSF1:    About MalaCards

subacute sclerosing panencephalitis gaucher's disease prostatitis

Export disorders for IGSF1 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 IGSF1 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with IGSF1)

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

Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. (PubMed id 9521868)^{1, 2, 3} Mazzarella R.... Schlessinger D. (1998)
Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25. (PubMed id 9729118)^{1, 2, 3} Frattini A....Vezzoni P. (1998)
Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)^{1, 2} Nakayama M....Ohara O. (2002)
Expression profile of active genes in the human pituitary gland. (PubMed id 11854097)^{1, 2} Tanaka S....Amino N. (2002)
Modulation of activin signal transduction by inhibin B and inhibin- binding protein (INhBP). (PubMed id 11266516)^{1, 2} Chapman S.C. and Woodruff T.K. (2001)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. (PubMed id 23143598)¹ Sun Y....Bernard D.J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein. (PubMed id 18981173)¹ Robakis T....Scheiffele P. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)

(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: 3547	HGNC: 5948	AceView: IGSF1	Ensembl:ENSG00000147255	euGenes: HUgn3547
ECgene: IGSF1	H-InvDB: IGSF1

(According to HUGE)
About This Section

HUGE: KIAA0364

(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 IGSF1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IGSF1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for IGSF1 gene:
Search GeneIP for patents involving IGSF1

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


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for IGSF1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IGSF1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IGSF1
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for IGSF1		OriGene 3'-UTR Clone for IGSF1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IGSF1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IGSF1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for IGSF1		OriGene Custom Protein Services for IGSF1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IGSF1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGSF1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGSF1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IGSF1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGSF1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IGSF1

	GenScript Custom Purified and Recombinant Proteins Services for IGSF1		GenScript cDNA clones with any tag delivered in your preferred vector for IGSF1
	GenScript Custom Assay Services for IGSF1		GenScript Custom Superior Antibodies Services for IGSF1
	GenScript Custom overexpressing Cell Line Services for IGSF1		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

Search for Antibodies & Assays

	Regulatory tfbs in IGSF1 promoter
	Search Chromatin IP Primers for IGSF1
	RT² qPCR Primer Assay in human, mouse, rat IGSF1
	GNC Network for IGSF1
	SABiosciences Custom PCR Arrays for IGSF1

Search Tocris compounds for IGSF1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

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

	Novus Tissue Slides
	IGSF1 antibodies
	IGSF1 proteins

	Search for Antibodies for IGSF1 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for IGSF1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

IGSF1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for IGSF1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF1

	SwitchGear 3'UTR luciferase reporter plasmids for IGSF1
	SwitchGear Promoter luciferase reporter plasmids for IGSF1

ThermoFisher Antibodies for IGSF1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGSF1

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

View Random Gene

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 IGSF1 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

IGSF1 Gene

immunoglobulin superfamily, member 1

Aliases
for IGSF1 gene

Summaries
for IGSF1 gene

Genomic Views
for IGSF1 gene

Proteins
for IGSF1 gene

Protein Domains /
Families
for IGSF1 gene

Function
for IGSF1 gene

Pathways & Interactions
for IGSF1 gene

Drugs & Compounds
for IGSF1 gene

Transcripts
for IGSF1 gene

Expression
for IGSF1 gene

Orthologs
for IGSF1 gene

Paralogs
for IGSF1 gene

Genomic Variants
for IGSF1 gene

Disorders / Diseases
for IGSF1 gene

Publications
for IGSF1 gene

External Searches for IGSF1 gene

Genome Databases showing IGSF1 gene

Other Databases showing IGSF1 gene

Specialized Databases showing IGSF1 gene

Intellectual Property
for IGSF1 gene

Products
for IGSF1 gene

View Random Gene

Advanced Search

Export list of displayed genes

IGSF1 Gene

immunoglobulin superfamily, member 1

Aliasesfor IGSF1 gene

Summariesfor IGSF1 gene

Genomic Viewsfor IGSF1 gene

Proteinsfor IGSF1 gene

Protein Domains /Familiesfor IGSF1 gene

Functionfor IGSF1 gene

Pathways & Interactionsfor IGSF1 gene

Drugs & Compoundsfor IGSF1 gene

Transcriptsfor IGSF1 gene

Expression for IGSF1 gene

Orthologsfor IGSF1 gene

Paralogsfor IGSF1 gene

Genomic Variantsfor IGSF1 gene

Disorders / Diseasesfor IGSF1 gene

Publicationsfor IGSF1 gene

External Searches for IGSF1 gene

Genome Databases showing IGSF1 gene

Other Databases showing IGSF1 gene

Specialized Databases showing IGSF1 gene

Intellectual Propertyfor IGSF1 gene

Productsfor IGSF1 gene

View Random Gene

Aliases
for IGSF1 gene

Summaries
for IGSF1 gene

Genomic Views
for IGSF1 gene

Proteins
for IGSF1 gene

Protein Domains /
Families
for IGSF1 gene

Function
for IGSF1 gene

Pathways & Interactions
for IGSF1 gene

Drugs & Compounds
for IGSF1 gene

Transcripts
for IGSF1 gene

Expression
for IGSF1 gene

Orthologs
for IGSF1 gene

Paralogs
for IGSF1 gene

Genomic Variants
for IGSF1 gene

Disorders / Diseases
for IGSF1 gene

Publications
for IGSF1 gene

Intellectual Property
for IGSF1 gene

Products
for IGSF1 gene