2. Gene
  3. IGSF1 - immunoglobulin superfamily member 1 Gene

IGSF1 - immunoglobulin superfamily member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 3547 | Gene type: protein coding

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

IGSF1 Protein Structure

Ig_2

Ig_2: Immunoglobulin domain (49 - 123)

Ig_2

Ig_2: Immunoglobulin domain (137 - 221)

Ig_2

Ig_2: Immunoglobulin domain (227 - 310)

Ig_2

Ig_2: Immunoglobulin domain (327 - 400)

Ig_3

Ig_3: Immunoglobulin domain (420 - 485)

Ig_2

Ig_2: Immunoglobulin domain (591 - 676)

Ig_2

Ig_2: Immunoglobulin domain (685 - 771)

Ig_2

Ig_2: Immunoglobulin domain (786 - 868)

Ig_2

Ig_2: Immunoglobulin domain (875 - 950)

Ig_2

Ig_2: Immunoglobulin domain (970 - 1060)

Ig_3

Ig_3: Immunoglobulin domain (1066 - 1136)

Ig_2

Ig_2: Immunoglobulin domain (1162 - 1246)

  • 0
  • 300
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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06645 IGSF1 Human Pre-designed siRNA Set A / 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
Macaca fascicularis IGSF1 NCBI
Others IGSF1 NCBI