1. Gene
  2. HCFC1 - host cell factor C1 Gene

HCFC1 - host cell factor C1 Gene

Homo sapiens

Also known as CFF; HCF; HCF1; HFC1; MRX3; VCAF; HCF-1; MAHCX; XLID3; PPP1R89

Gene ID: 3054 | Gene type: protein coding

About HCFC1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,947,557-153,971,818 (from NCBI)

This gene has 4 transcripts (splice variants), 158 orthologues, 10 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.5), spleen (RPKM 8.5) and 25 other tissues.

Summary

This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus Infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

HCFC1 Products(2)

mRNA Protein Name
NM_001410705.1 NP_001397634.1 host cell factor 1 isoform 1
NM_005334.3 NP_005325.2 host cell factor 1 isoform 2

HCFC1 Protein Structure

Kelch_1

Kelch_1: Kelch motif (32 - 69)

Kelch_3

Kelch_3: Galactose oxidase, central domain (91 - 143)

Kelch_3

Kelch_3: Galactose oxidase, central domain (146 - 208)

Kelch_3

Kelch_3: Galactose oxidase, central domain (217 - 263)

Kelch_3

Kelch_3: Galactose oxidase, central domain (264 - 330)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2035 a.a.
Protein Preferred Names Protein Names

host cell factor 1

VP16-accessory protein

Related Diseases

Diseases Alias
Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC

Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria And Homocystinuria Type Cblc

Cobalamin C Disease

Methylmalonic Acidemia With Homocystinuria Cblc

Methylmalonic Acidemia And Homocystinuria, Cblc Type

Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

Cobalamin C Deficiency

Methylmalonic Acidemia With Homocystinuria, Type Cblc

Cblc Defect

Cobalamin C Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria With Homocystinuria, Type Cblc

Methylmalonic Acidemia And Homocystinuria Cblc Type

Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

Methylmalonic Acidemia With Homocystinuria

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Disorders Of Intracellular Cobalamin Metabolism
Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18

American Histoplasmosis

Infection By Histoplasma Capsulatum

Malignant Pleural Mesothelioma

Malignant Mesothelioma Of Pleura

Pleural Malignant Mesothelioma

Dengue Disease

Dengue Fever

Dengue

Df

Dengue Shock Syndrome

Dengue Virus Infection

Breakbone Fever

Classic Dengue

Classical Dengue

Dengue Hemorrhagic Fever

Hemorrhagic Dengue

Philippine Hemorrhagic Fever

Singapore Hemorrhagic Fever

Thai Hemorrhagic Fever

Severe Dengue

Dengue Fever Without Warning Signs

Dengue Haemorrhagic Fever Grade 1

Dengue Haemorrhagic Fever Without Warning Signs

Bangkok Haemorrhagic Fever

Singapore Haemorrhagic Fever

Thailand Haemorrhagic Fever

Southeast Asia Haemorrhagic Fever

Dhf -[Dengue Haemorrhagic Fever]

Dengue Fever With Warning Signs

Dengue Haemorrhagic Fever With Warning Signs

Dengue Haemorrhagic Fever Grade 2

Philippine Haemorrhagic Fever

Non-Syndromic X-Linked Intellectual Disability 2

Mrx2

Waisman Syndrome

Early-Onset Parkinsonism-Intellectual Disability Syndrome

Bgmr

Wsn

Laxova-Opitz Syndrome

WSMN

Parkinsonism, Early-Onset, With Mental Retardation

Basal Ganglion Disorder With Mental Retardation

Basal Ganglia Disorder With Intellectual Disability

Laxova Brown Hogan Syndrome

X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability

African Histoplasmosis
Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

Holoprosencephaly 1

Arhinencephaly

HPE1

Cyclopia

Holoprosencephaly, Familial Alobar

Hpe, Familial

Hpec

Demyer Sequence

Holoprosencephaly-1

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Macaca mulatta HCFC1 VGNC VGNC:73352
Felis catus HCFC1 VGNC VGNC:67541
Mus musculus HCFC1 MGD MGI:105942
Rattus norvegicus HCFC1 RGD RGD:1563804
Canis familiaris HCFC1 VGNC VGNC:41615
Bos taurus HCFC1 VGNC VGNC:29771