ITIH3 - inter-alpha-trypsin inhibitor heavy chain 3 Gene

中文名称：α-胰蛋白酶抑制因子重链 3

种属: Homo sapiens

同用名: H3P; SHAP; ITI-HC3

基因 ID: 3699 | 基因类型: protein coding

关于 ITIH3

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,794,796-52,808,797 (from NCBI)

This gene has 11 transcripts (splice variants), 299 orthologues and 11 paralogues. Restricted expression toward liver (RPKM 228.8).

功能概要

该基因编码前α-胰蛋白酶抑制剂复合物的重链亚基。该复合物可通过其结合透明质酸的能力稳定细胞外基质。该基因的多态性可能与精神分裂症和重度抑郁症的风险增加有关。该基因存在于 3 号染色体上的 inter-alpha-胰蛋白酶抑制剂家族基因簇中。[RefSeq 提供，2015 年 7 月]

This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]

ITIH3 基因产物(10)

mRNA	Protein	Name
NM_001392019.1	NP_001378948.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 1 precursor
NM_001392020.1	NP_001378949.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 2 precursor
NM_001392021.1	NP_001378950.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 3 precursor
NM_001392022.1	NP_001378951.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 5 precursor
NM_001392023.1	NP_001378952.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 6 precursor
NM_001392024.1	NP_001378953.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 7 precursor
NM_001392025.1	NP_001378954.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 8 precursor
NM_001392026.1	NP_001378955.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 9 precursor
NM_001392027.1	NP_001378956.1	inter-alpha-trypsin inhibitor heavy chain H3 isoform 10 precursor
NM_002217.4	NP_002208.3	inter-alpha-trypsin inhibitor heavy chain H3 isoform 4 preproprotein

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16873769	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

ITIH3 蛋白结构

VIT

VWA

ITI_HC_C

0
200
400
600
800
890 a.a.

蛋白主名

其他名称

inter-alpha-trypsin inhibitor heavy chain H3

ITI heavy chain H3

重组 ITIH3 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70407	ITIH3 Protein, Human (HEK293, His)	Q06033-1 (L35-D651)	≥95%

关联疾病

疾病名称

别名

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Immunoglobulin Heavy-And-Light Chain

Ah/Al Amyloidosis

Ig Heavy-And-Light-Chain Amyloidosis

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06976	ITIH3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ITIH3	MGD	MGI:96620
Macaca mulatta	ITIH3	VGNC	VGNC:73795
Felis catus	ITIH3	VGNC	VGNC:67861
Rattus norvegicus	ITIH3	RGD	RGD:620633
Bos taurus	ITIH3	VGNC	VGNC:30335
Canis familiaris	ITIH3	VGNC	VGNC:103686
Others	ITIH3	NCBI

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