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
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_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
  • 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

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