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TTC4 - tetratricopeptide repeat domain 4 Gene

Also Known as CNS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7268

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18320024	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in defense response to virus	IMP IMP: Inferred from mutant phenotype	29251827	GOA
involved in innate immune response	IMP IMP: Inferred from mutant phenotype	29251827	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	29251827	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18320024	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

TTC4 Protein Structure

TPR_11

0
100
200
300
387 a.a.

Protein Preferred Names	Protein Names
tetratricopeptide repeat protein 4	TPR repeat protein 4

TTC4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TTC4	O95801	SNAPC3	Homo sapiens	Q92966	Validated Y2H	32296183
Intra	TTC4	O95801	HSP90AB1	Homo sapiens	P08238	LexA B52 Complement	18320024
Intra	TTC4	O95801	HSP90AB1	Homo sapiens	P08238	Anti Bait CoIP	18320024
Intra	TTC4	O95801	HSP90AB1	Homo sapiens	P08238	Pull Down	18320024
Intra	TTC4	O95801	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	25036637
Intra	TTC4	O95801	HGH1	Homo sapiens	Q9BTY7	Anti Tag CoIP	33961781
Intra	TTC4	O95801	HGH1	Homo sapiens	Q9BTY7	Anti Tag CoIP	28514442
Intra	TTC4	O95801	HGH1	Homo sapiens	Q9BTY7	Anti Tag CoIP	25036637

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15215	TTC4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TTC4	NCBI