1. Gene
  2. THAP5 - THAP domain containing 5 Gene

THAP5 - THAP domain containing 5 Gene

Homo sapiens
Gene ID: 168451 | Gene type: protein coding

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

THAP5 Protein Structure

THAP

THAP: THAP domain (3 - 88)

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  • 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