1. Gene
  2. IGFALS - insulin like growth factor binding protein acid labile subunit Gene

IGFALS - insulin like growth factor binding protein acid labile subunit Gene

中文名称:胰岛素样生长因子结合蛋白酸不稳定亚基

种属: Homo sapiens

同用名: ALS; ACLSD

基因 ID: 3483 | 基因类型: protein coding

关于 IGFALS

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,790,413-1,794,908 (from NCBI)

This gene has 3 transcripts (splice variants), 187 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 19.9) and stomach (RPKM 3.6).

功能概要

该基因编码的蛋白质是一种血清蛋白,可结合胰岛素样生长因子,增加其半衰期和血管定位。编码蛋白质的产生包含 20 个富含亮氨酸的重复序列,受到生长激素的刺激。该基因的缺陷是酸不稳定亚基缺陷的一个原因,它在延迟和缓慢的青春期中表现出来。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供,2009 年 3 月]

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

IGFALS 基因产物(2)

mRNA Protein Name
NM_001146006.2 NP_001139478.1 insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor
NM_004970.3 NP_004961.1 insulin-like growth factor-binding protein complex acid labile subunit isoform 2 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of insulin-like growth factor ternary complex IDA
IDA: 通过直接分析推断
9497324 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

IGFALS 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (40 - 73)

LRR_8

LRR_8: Leucine rich repeat (78 - 134)

LRR_1

LRR_1: Leucine Rich Repeat (195 - 217)

LRR_8

LRR_8: Leucine rich repeat (219 - 277)

LRR_8

LRR_8: Leucine rich repeat (292 - 350)

LRR_8

LRR_8: Leucine rich repeat (363 - 422)

LRR_8

LRR_8: Leucine rich repeat (436 - 494)

(506 - 521)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 605 a.a.
蛋白主名 其他名称

insulin-like growth factor-binding protein complex acid labile subunit

insulin-like growth factor binding protein complex acid labile chain

关联疾病

疾病名称 别名
Acid-Labile Subunit Deficiency

Short Stature Due To Primary Acid-Labile Subunit Deficiency

ACLSD

Acid-Labile Subunit, Deficiency Of

Decreased Levels Of Acid Labile Subunit

Growth Disorders

Insulin-Like Growth Factor I

Insulin-Like Growth Factor I Deficiency

IGF1 DEFICIENCY

Insulin-Like Growth Factor I, Resistance To

Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor I Resistance

IGF1RES

Igf-I Resistance

Somatomedin, End-Organ Insensitivity To

Somatomedin-C

Somatomedin-C, Resistance To

Growth Retardation With Sensorineural Deafness And Mental Retardation

Insulin-Like Growth Factor 1 Resistance To

Igf-1 Resistance

Somatomedin End-Organ Insensitivity To

Somatomedin-C Resistance To

Growth Restriction With Sensorineural Deafness And Intellectual Disability

Growth Delay-Deafness-Intellectual Disability Syndrome

Growth Delay-Hearing Loss-Intellectual Disability Syndrome

Igf-1 Deficiency

Primary Insulin-Like Growth Factor Deficiency

Resistance To Igf-1

Insulin-Like Growth Factor 1 Resistance

End-Organ Insensitivity To Somatomedin

Igf1 Resistance

Resistance To Insulin-Like Growth Factor I

Resistance To Somatomedin-C

Insulin-Like Growth Factor 1, Resistance To

Laron Syndrome

Growth Hormone Insensitivity Syndrome

Growth Hormone Receptor Deficiency

Laron Dwarfism

Pituitary Dwarfism Ii

Laron-Type Isolated Somatotropin Defect

Primary Growth Hormone Resistance

Laron-Type Dwarfism

Laron Type Pituitary Dwarfism I

Primary Growth Hormone Insensitivity

Primary Gh Resistance

Gh-R Deficiency

Growth Hormone Receptor Defect

Laron-Type Pituitary Dwarfism

Laron-Type Short Stature

Severe Gh Insensitivity

Ghis

Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway

Complete Growth Hormone Insensitivity

Gh Receptor Deficiency

Primary Gh Insensitivity

Short Stature Due To Growth Hormone Resistance

LARS

Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Spondyloepiphyseal Dysplasia, Kimberley Type

SEDK

Spondyloepiphyseal Dysplasia Kimberley Type

Spondyloepiphyseal Dysplasia Type Kimberley

Dysplasia, Spondyloepiphyseal, Kimberley Type

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus IGFALS RGD RGD:68429
Canis familiaris IGFALS VGNC VGNC:54036
Macaca mulatta IGFALS VGNC VGNC:73573
Mus musculus IGFALS MGD MGI:107973