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IGSF1 - immunoglobulin superfamily member 1 Gene

Also Known as CHTE; p120; IGCD1; IGDC1; INHBP; PGSF2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3547

About IGSF1

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:131,273,506-131,289,464 (from NCBI)

This gene has 17 transcripts (splice variants), 247 orthologues, 25 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 3.9), adrenal (RPKM 3.4) and 13 other tissues.

Summary

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]

IGSF1 Products (5)

mRNA	Protein	Name
NM_001170961.2	NP_001164432.1	immunoglobulin superfamily member 1 isoform 3 precursor
NM_001170962.2	NP_001164433.1	immunoglobulin superfamily member 1 isoform 4
NM_001170963.2	NP_001164434.1	immunoglobulin superfamily member 1 isoform 2 precursor
NM_001555.5	NP_001546.2	immunoglobulin superfamily member 1 isoform 1 precursor
NM_205833.4	NP_991402.1	immunoglobulin superfamily member 1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables activin receptor antagonist activity	IDA IDA: Inferred from direct assay	11266516	GOA
enables inhibin binding	IDA IDA: Inferred from direct assay	11266516	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11266516	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	11266516	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11266516	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	11266516	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IGSF1 Protein Structure

Ig_2

Ig_3

Ig_2

Ig_3

Ig_2

0
300
600
900
1200
1336 a.a.

Protein Preferred Names	Protein Names
immunoglobulin superfamily member 1	immunoglobulin-like domain-containing protein 1

Related Diseases

Diseases	Alias
Hypothyroidism, Central, With Testicular Enlargement	X-Linked Central Congenital Hypothyroidism With Late-Onset Testicular Enlargement CHTE Hypothyroidism, Central, And Testicular Enlargement Igsf1 Deficiency Syndrome X-Linked Central Congenital Hypothyroidism With Late-Onset Macroorchidism Central Hypothyroidism And Testicular Enlargement Hypothyroidism, Central, Testicular Enlargement
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Vertebral Artery Insufficiency	Vertebral Artery Syndrome
Sotos Syndrome 1	Sotos1 Sotos Syndrome, Type 1 Sotos' Syndrome
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06645	IGSF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18522	Igsf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25004	Igsf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992021	WM-A1-3389	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	IGSF1	RGD	RGD:631402
Bos taurus	IGSF1	VGNC	VGNC:56923
Canis familiaris	IGSF1	VGNC	VGNC:41912
Felis catus	IGSF1	VGNC	VGNC:67745
Macaca mulatta	IGSF1	VGNC	VGNC:73579
Mus musculus	IGSF1	MGD	MGI:2147913
Others	IGSF1	NCBI