1. Gene
  2. TTC4 - tetratricopeptide repeat domain 4 Gene

TTC4 - tetratricopeptide repeat domain 4 Gene

中文名称:四肽重复结构域 4

种属: Homo sapiens

同用名: CNS1

基因 ID: 7268 | 基因类型: protein coding

关于 TTC4

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,715,861-54,742,657 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 12.6), ovary (RPKM 7.5) and 25 other tissues.

功能概要

该基因编码的蛋白质包含四肽 (TPR) 重复序列,通常介导蛋白质-蛋白质相互作用和分子伴侣活性。编码的蛋白质与热休克蛋白 70 和 90 相互作用。可变剪接导致多个转录变体。从上游基因 MROH (maestro heat-like repeat family member 7) 到该基因发生自然发生的通读转录。[RefSeq 提供,2014 年 4 月]

This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]

TTC4 基因产物(2)

mRNA Protein Name
NM_001291333.2 NP_001278262.1 tetratricopeptide repeat protein 4 isoform 2
NM_004623.5 NP_004614.3 tetratricopeptide repeat protein 4 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
18320024 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to virus IMP
IMP: 通过突变表型推断
29251827 GOA
involved in innate immune response IMP
IMP: 通过突变表型推断
29251827 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
29251827 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18320024 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

TTC4 蛋白结构

TPR_11

TPR_11: TPR repeat (77 - 148)

  • 0
  • 100
  • 200
  • 300
  • 387 a.a.
蛋白主名 其他名称

tetratricopeptide repeat protein 4

TPR repeat protein 4

关联疾病

疾病名称 别名
Sporadic Breast Cancer

Sporadic Breast Carcinoma

Intellectual Developmental Disorder, Autosomal Dominant 29

MRD29

Autosomal Dominant Non-Syndromic Intellectual Disability 29

Mental Retardation, Autosomal Dominant 29

Autosomal Dominant Intellectual Developmental Disorder 29

Autosomal Dominant Mental Retardation 29

Mental Retardation, Autosomal Dominant, Type 29

Intellectual Developmental Disorder, Autosomal Dominant 10

MRD10

Mental Retardation, Autosomal Dominant 10

Autosomal Dominant Non-Syndromic Intellectual Disability 10

Autosomal Dominant Intellectual Developmental Disorder 10

Autosomal Dominant Mental Retardation 10

Mental Retardation, Autosomal Dominant, Type 10

Intellectual Developmental Disorder, Autosomal Dominant 5

MRD5

Autosomal Dominant Non-Syndromic Intellectual Disability 5

Intellectual Disability, Autosomal Dominant 5

Mental Retardation, Autosomal Dominant 5

Autosomal Dominant Intellectual Developmental Disorder 5

Syngap1-Related Non-Syndromic Intellectual Disability

Autosomal Dominant Intellectual Disability 5

Syngap1 Syndrome

Syngap1-Related Nsid

Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism

Testicular Leukemia
Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked

IPEX

X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Xlaad

Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

Ipex Syndrome

Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

Iddm-Secretory Diarrhea Syndrome

Dmsd

Autoimmunity-Immunodeficiency Syndrome, X-Linked

Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

Xpid

Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

Autoimmune Enteropathy Type 1

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

Autoimmunity-Immunodeficiency Syndrome X-Linked

Iddm Secretory Diarrhea Syndrome

Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

X-Linked Autoimmunity-Immunodeficiency Syndrome

Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Cranial Nerve Palsy

Cranial Nerve Paralysis

Cranial Nerve Diseases

Cranial Nerve Palsies

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

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
Bos taurus TTC4 VGNC VGNC:36478
Rattus norvegicus TTC4 RGD RGD:1308529
Canis familiaris TTC4 VGNC VGNC:47959
Macaca mulatta TTC4 VGNC VGNC:78668
Mus musculus TTC4 MGD MGI:1919604
Felis catus TTC4 VGNC VGNC:66673