THAP5 - THAP domain containing 5 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 168451

About THAP5

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:108,541,759-108,569,768 (from NCBI)

This gene has 8 transcripts (splice variants) and 103 orthologues. Ubiquitous expression in thyroid (RPKM 13.7), testis (RPKM 10.7) and 25 other tissues.

Summary

Enables protease binding activity. Involved in negative regulation of cell cycle and negative regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

THAP5 Products (5)

mRNA Protein Name
NM_001130475.3 NP_001123947.1 THAP domain-containing protein 5 isoform 1
NM_001287598.1 NP_001274527.1 THAP domain-containing protein 5 isoform 3
NM_001287599.1 NP_001274528.1 THAP domain-containing protein 5 isoform 3
NM_001287601.1 NP_001274530.1 THAP domain-containing protein 5 isoform 3
NM_182529.3 NP_872335.2 THAP domain-containing protein 5 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protease binding IPI
IPI: Inferred from physical interaction
19502560 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
19502560 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
21110952 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
21110952 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19502560 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

THAP5 Protein Structure

THAP

THAP: THAP domain (3 - 88)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

THAP domain-containing protein 5

Related Diseases

Diseases Alias
Townes-Brocks Syndrome
  • Townes Syndrome

  • Renal-Ear-Anal-Radial Syndrome

  • Anus, Imperforate, With Hand, Foot And Ear Anomalies

  • Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

  • Rear Syndrome

  • Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

  • Tbs

  • Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

  • Imperforate Anus With Hand, Foot And Ear Anomalies

  • Anal-Ear-Renal-Radial Malformation Syndrome

  • Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

  • Imperforate Anus-Hand And Foot Anomalies Syndrome

  • Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

  • Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Branchiootorenal Syndrome
  • Branchio-Oto-Renal Syndrome

  • Bor Syndrome

  • Branchiootorenal Dysplasia

  • Melnick-Fraser Syndrome

  • Branchiootorenal Spectrum Disorders

  • Branchio-Otorenal Dysplasia

  • Branchio Oto Renal Syndrome

  • Branchiootorenal/Branchiootic Syndrome

  • Bo Syndrome

  • Bor

  • Bos

  • Branchio-Otorenal Syndrome

  • Branchiootic Syndrome

  • Branchiootorenal Syndrome

  • Branchiootic Syndrome 1

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