TTC7B - tetratricopeptide repeat domain 7B Gene

Also Known as TTC7L1; c14_5685

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 145567

About TTC7B

Cytogenetic location: 14q32.11 Genomic coordinates (GRCh38): 14:90,524,564-90,816,430 (from NCBI)

This gene has 15 transcripts (splice variants), 211 orthologues and 14 paralogues. Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues.

Summary

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

TTC7B Products (3)

mRNA Protein Name
NM_001010854.2 NP_001010854.1 tetratricopeptide repeat protein 7B isoform 1
NM_001320421.2 NP_001307350.1 tetratricopeptide repeat protein 7B isoform 2
NM_001401365.1 NP_001388294.1 tetratricopeptide repeat protein 7B isoform 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23229899 GOA
Biological Process GO Annotation Evidence References Source
involved in phosphatidylinositol phosphate biosynthetic process IDA
IDA: Inferred from direct assay
23229899 GOA
involved in protein localization to plasma membrane IDA
IDA: Inferred from direct assay
23229899 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
23229899 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23229899 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

TTC7B Protein Structure

TPR_9

TPR_9: Tetratricopeptide repeat (375 - 439)

TPR_11

TPR_11: TPR repeat (695 - 761)

TPR_8

TPR_8: Tetratricopeptide repeat (768 - 794)

TPR_2

TPR_2: Tetratricopeptide repeat (799 - 828)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 843 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 7B

  • TPR repeat protein 7-like-1

TTC7B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TTC7B Q86TV6 HYCC1 Homo sapiens Q9BYI3 32296183
Intra
TTC7B Q86TV6 HYCC1 Homo sapiens Q9BYI3 32296183
Intra
TTC7B Q86TV6 HYCC1 Homo sapiens Q9BYI3 32296183
Intra
TTC7B Q86TV6 COG6 Homo sapiens Q9Y2V7 32296183
Intra
TTC7B Q86TV6 COG6 Homo sapiens Q9Y2V7 32296183
Intra
TTC7B Q86TV6 COG6 Homo sapiens Q9Y2V7 32296183
Intra
TTC7B Q86TV6 RUSC1 Homo sapiens Q9BVN2 32296183
Intra
TTC7B Q86TV6 RUSC1 Homo sapiens Q9BVN2 32296183
Intra
TTC7B Q86TV6 RUSC1 Homo sapiens Q9BVN2 32296183
Intra
TTC7B Q86TV6 RAB3IL1 Homo sapiens Q8TBN0 32296183
Intra
TTC7B Q86TV6 HYCC2 Homo sapiens Q8IXS8 32296183
Intra
TTC7B Q86TV6 HYCC2 Homo sapiens Q8IXS8 32296183
Intra
TTC7B Q86TV6 HYCC2 Homo sapiens Q8IXS8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hypomyelinating Leukoencephalopathy
Gastrointestinal Defects And Immunodeficiency Syndrome 1
  • Familial Intestinal Polyatresia Syndrome

  • Fipa

  • Gastrointestinal Defects And Immunodeficiency Syndrome

  • Multiple Gastrointestinal Atresias

  • Familial Isolated Pituitary Adenoma

  • Intestinal Atresia, Multiple

  • Multiple Intestinal Atresia

  • GIDID1

  • Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

  • Minat

  • Gidid

  • Meddra:10028210

  • Familial Isolated Pituitary Adenoma Syndrome

  • Intestinal Atresia Multiple

  • Combined Immunodeficiency-Enteropathy Spectrum

  • Cid-Mia/Early-Onset Ibd

  • Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

  • Mia

  • Gastrointestinal Defect And Immunodeficiency Syndrome

  • Pituitary Adenoma Predisposition

  • Pituitary Adenoma, Familial Isolated

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TTC7B RGD RGD:1305920
Mus musculus TTC7B MGD MGI:2144724
Macaca mulatta TTC7B VGNC VGNC:79205
Bos taurus TTC7B VGNC VGNC:36481
Felis catus TTC7B VGNC VGNC:66676
Canis familiaris TTC7B VGNC VGNC:47962
Others TTC7B NCBI