1. Gene
  2. HLTF - helicase like transcription factor Gene

HLTF - helicase like transcription factor Gene

Homo sapiens

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

Gene ID: 6596 | Gene type: protein coding

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

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)

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  • 1009 a.a.
Protein Preferred Names Protein Names

helicase-like transcription factor

DNA-binding protein/plasminogen activator inhibitor-1 regulator

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