1. Gene
  2. TTC5 - tetratricopeptide repeat domain 5 Gene

TTC5 - tetratricopeptide repeat domain 5 Gene

Homo sapiens

Also known as Strap; NEDCAFD

Gene ID: 91875 | Gene type: protein coding

About TTC5

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,286,227-20,305,951 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.4) and 25 other tissues.

Summary

Predicted to enable DNA binding activity and chromatin binding activity. Predicted to be involved in DNA repair. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TTC5 Products(1)

mRNA Protein Name
NM_138376.3 NP_612385.2 tetratricopeptide repeat protein 5

TTC5 Protein Structure

TPR_11

TPR_11: TPR repeat (87 - 130)

  • 0
  • 100
  • 200
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  • 400
  • 440 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 5

TPR repeat protein 5

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism

NEDCAFD

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Pseudobulbar Palsy

Pseudobulbar Paralysis

Tubulinopathy

Tubulinopathies

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 TTC5 RGD RGD:1311284
Canis familiaris TTC5 VGNC VGNC:47960
Mus musculus TTC5 MGD MGI:2683584
Felis catus TTC5 VGNC VGNC:66674
Bos taurus TTC5 VGNC VGNC:36479
Macaca mulatta TTC5 VGNC VGNC:79190