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

IGSF1 - immunoglobulin superfamily member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：免疫球蛋白超家族成员 1

种属: Homo sapiens

同用名: CHTE; p120; IGCD1; IGDC1; INHBP; PGSF2

基因 ID: 3547 | 基因类型: protein coding

关于 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.

功能概要

该基因编码含有免疫球蛋白样结构域的超家族成员。这个超家族中的蛋白质包含不同数量的免疫球蛋白样结构域，并被认为参与细胞间相互作用的调节。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2010 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables activin receptor antagonist activity IDA
IDA: 通过直接分析推断
11266516 GOA
enables inhibin binding IDA
IDA: 通过直接分析推断
11266516 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11266516 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of activin receptor signaling pathway IDA
IDA: 通过直接分析推断
11266516 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11266516 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
11266516 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IGSF1 蛋白结构

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.
蛋白主名 其他名称

immunoglobulin superfamily member 1

immunoglobulin-like domain-containing protein 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06645 IGSF1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18522 Igsf1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25004 Igsf1 Rat Pre-designed siRNA Set A Pre-designed Set / 否
抗体抑制剂 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P992021 WM-A1-3389 Inhibitor / 否

直系同源

种属 基因名 来源 基因 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 NCBI:102126657
Others IGSF1 NCBI
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