HLTF - helicase like transcription factor Gene

Also Known as ZBU1; HLTF1; RNF80; HIP116; SNF2L3; HIP116A; SMARCA3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6596

About HLTF

Cytogenetic location: 3q24 Genomic coordinates (GRCh38): 3:149,030,063-149,086,533 (from NCBI)

This gene has 9 transcripts (splice variants), 184 orthologues and 30 paralogues. Broad expression in testis (RPKM 29.4), adrenal (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]

HLTF Products (8)

mRNA Protein Name
NM_001318934.2 NP_001305863.1 helicase-like transcription factor isoform 2
NM_001318935.2 NP_001305864.1 helicase-like transcription factor isoform 1
NM_003071.4 NP_003062.2 helicase-like transcription factor isoform 1
NM_139048.3 NP_620636.1 helicase-like transcription factor isoform 1
NM_001318934.2 NP_001305863.1 helicase-like transcription factor isoform 2
NM_001318935.2 NP_001305864.1 helicase-like transcription factor isoform 1
NM_003071.4 NP_003062.2 helicase-like transcription factor isoform 1
NM_139048.3 NP_620636.1 helicase-like transcription factor isoform 1
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
10391891 GOA
enables ubiquitin protein ligase activity EXP
EXP: Inferred from Experiment
18316726 GOA
enables ubiquitin protein ligase binding IDA
IDA: Inferred from direct assay
25023518 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of RNA polymerase II transcription regulator complex EXP
EXP: Inferred from Experiment
23415230 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

HLTF Protein Structure

HIRAN

HIRAN: HIRAN domain (61 - 153)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (243 - 721)

zf-RING_2

zf-RING_2: Ring finger domain (758 - 801)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (871 - 950)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1009 a.a.
Protein Preferred Names Protein Names

helicase-like transcription factor

  • DNA-binding protein/plasminogen activator inhibitor-1 regulator

HLTF Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
HLTF Q14527 UBE2N Homo sapiens P61088 18719106
Intra
HLTF Q14527 UBE2N Homo sapiens P61088 18316726
Intra
HLTF Q14527 UBE2N Homo sapiens P61088 18316726
Intra
HLTF Q14527 RAD18 Homo sapiens Q9NS91 18316726
Intra
HLTF Q14527 RAD18 Homo sapiens Q9NS91 18316726
Intra
HLTF Q14527 PCNA Homo sapiens P12004 18316726
Intra
HLTF Q14527 S100A10 Homo sapiens P60903 23415230
Cross: Cross-species interaction Intra: Intraspecies interaction

HLTF Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P82341 HLTF Antibody (YA2086) WB, IHC-P, ICC/IF Human, Rat

Related Diseases

Diseases Alias
Schimke Immunoosseous Dysplasia
  • Schimke Immuno-Osseous Dysplasia

  • SIOD

  • Immunoosseous Dysplasia, Schimke Type

  • Schimke Syndrome

  • Immunoosseous Dysplasia Schimke Type

  • Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

  • Spondyloepiphyseal Dysplasia Nephrotic Syndrome

  • Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

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 HLTF RGD RGD:1309031
Mus musculus HLTF MGD MGI:1196437
Macaca mulatta HLTF VGNC VGNC:73383
Bos taurus HLTF VGNC VGNC:50276
Felis catus HLTF VGNC VGNC:62822
Canis familiaris HLTF VGNC VGNC:50301
Others HLTF NCBI