Gene Gene information from NCBI Gene database.
Entrez ID 3054
Gene name Host cell factor C1
Gene symbol HCFC1
Synonyms (NCBI Gene)
CFFHCFHCF-1HCF1HFC1MAHCXMRX3PPP1R89VCAFXLID3
Chromosome X
Chromosome location Xq28
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 cleave
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs199953428 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs200053475 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs318240758 C>T Not-provided, pathogenic Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs376049260 G>A Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs397515485 G>A,C Pathogenic Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
342
miRTarBase ID miRNA Experiments Reference
MIRT052040 hsa-let-7b-5p CLASH 23622248
MIRT052040 hsa-let-7b-5p CLASH 23622248
MIRT050444 hsa-miR-23a-3p CLASH 23622248
MIRT049708 hsa-miR-92a-3p CLASH 23622248
MIRT047097 hsa-miR-183-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
E2F4 Activation 14532282
YY1 Unknown 23000143
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000123 Component Histone acetyltransferase complex IDA 20018852
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0001835 Process Blastocyst hatching IEA
GO:0003682 Function Chromatin binding IDA 21285374
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300019 4839 ENSG00000172534
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51610
Protein name Host cell factor 1 (HCF) (HCF-1) (C1 factor) (CFF) (VCAF) (VP16 accessory protein) [Cleaved into: HCF N-terminal chain 1; HCF N-terminal chain 2; HCF N-terminal chain 3; HCF N-terminal chain 4; HCF N-terminal chain 5; HCF N-terminal chain 6; HCF C-termina
Protein function Transcriptional coregulator (By similarity). Serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators (PubMed:26416877). Involved in control of the cell cycl
PDB 4GO6 , 4N39 , 4N3A , 4N3B , 4N3C , 5LWV , 6MA1 , 6MA2 , 6MA3 , 6MA4 , 6MA5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01344 Kelch_1 32 70 Kelch motif Repeat
PF13415 Kelch_3 264 330 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal tissues and the adult kidney. Present in all tissues tested. {ECO:0000269|PubMed:9389645}.
Sequence
MASAVSPANLPAVLLQPRWKRVVGWSGPVPRPRHGHRAVAIKELIVVFGGGNEGIVDELH
VYNTATNQWF
IPAVRGDIPPGCAAYGFVCDGTRLLVFGGMVEYGKYSNDLYELQASRWEW
KRLKAKTPKNGPPPCPRLGHSFSLVGNKCYLFGGLANDSEDPKNNIPRYLNDLYILELRP
GSGVVAWDIPITYGVLPPPRESHTAVVYTEKDNKKSKLVIYGGMSGCRLGDLWTLDIDTL
TWNKPSLSGVAPLPRSLHSATTIGNKMYVFGGWVPLVMDDVKVATHEKEWKCTNTLACLN
LDTMAWETILMDTLEDNIPRARAGHCAVAI
NTRLYIWSGRDGYRKAWNNQVCCKDLWYLE
TEKPPPPARVQLVRANTNSLEVSWGAVATADSYLLQLQKYDIPATAATATSPTPNPVPSV
PANPPKSPAPAAAAPAVQPLTQVGITLLPQAAPAPPTTTTIQVLPTVPGSSISVPTAART
QGVPAVLKVTGPQATTGTPLVTMRPASQAGKAPVTVTSLPAGVRMVVPTQSAQGTVIGSS
PQMSGMAALAAAAAATQKIPPSSAPTVLSVPAGTTIVKTMAVTPGTTTLPATVKVASSPV
MVSNPATRMLKTAAAQVGTSVSSATNTSTRPIITVHKSGTVTVAQQAQVVTTVVGGVTKT
ITLVKSPISVPGGSALISNLGKVMSVVQTKPVQTSAVTGQASTGPVTQIIQTKGPLPAGT
ILKLVTSADGKPTTIITTTQASGAGTKPTILGISSVSPSTTKPGTTTIIKTIPMSAIITQ
AGATGVTSSPGIKSPITIITTKVMTSGTGAPAKIITAVPKIATGHGQQGVTQVVLKGAPG
QPGTILRTVPMGGVRLVTPVTVSAVKPAVTTLVVKGTTGVTTLGTVTGTVSTSLAGAGGH
STSASLATPITTLGTIATLSSQVINPTAITVSAAQTTLTAAGGLTTPTITMQPVSQPTQV
TLITAPSGVEAQPVHDLPVSILASPTTEQPTATVTIADSGQGDVQPGTVTLVCSNPPCET
HETGTTNTATTTVVANLGGHPQPTQVQFVCDRQEAAASLVTSTVGQQNGSVVRVCSNPPC
ETHETGTTNTATTATSNMAGQHGCSNPPCETHETGTTNTATTAMSSVGANHQRDARRACA
AGTPAVIRISVATGALEAAQGSKSQCQTRQTSATSTTMTVMATGAPCSAGPLLGPSMARE
PGGRSPAFVQLAPLSSKVRLSSPSIKDLPAGRHSHAVSTAAMTRSSVGAGEPRMAPVCES
LQGGSPSTTVTVTALEALLCPSATVTQVCSNPPCETHETGTTNTATTSNAGSAQRVCSNP
PCETHETGTTHTATTATSNGGTGQPEGGQQPPAGRPCETHQTTSTGTTMSVSVGALLPDA
TSSHRTVESGLEVAAAPSVTPQAGTALLAPFPTQRVCSNPPCETHETGTTHTATTVTSNM
SSNQDPPPAASDQGEVESTQGDSVNITSSSAITTTVSSTLTRAVTTVTQSTPVPGPSVPP
PEELQVSPGPRQQLPPRQLLQSASTALMGESAEVLSASQTPELPAAVDLSSTGEPSSGQE
SAGSAVVATVVVQPPPPTQSEVDQLSLPQELMAEAQAGTTTLMVTGLTPEELAVTAAAEA
AAQAAATEEAQALAIQAVLQAAQQAVMGTGEPMDTSEAAATVTQAELGHLSAEGQEGQAT
TIPIVLTQQELAALVQQQQLQEAQAQQQHHHLPTEALAPADSLNDPAIESNCLNELAGTV
PSTVALLPSTATESLAPSNTFVAPQPVVVASPAKLQAAATLTEVANGIESLGVKPDLPPP
PSKAPMKKENQWFDVGVIKGTNVMVTHYFLPPDDAVPSDDDLGTVPDYNQLKKQELQPGT
AYKFRVAGINACGRGPFSEISAFKTCLPGFPGAPCAIKISKSPDGAHLTWEPPSVTSGKI
IEYSVYLAIQSSQAGGELKSSTPAQLAFMRVYCGPSPSCLVQSSSLSNAHIDYTTKPAII
FRIAARNEKGYGPATQVRWLQETSKDSSGTKPANKRPMSSPEMKSAPKKSKADGQ
Sequence length 2035
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex
Cobalamin transport and metabolism
Herpes simplex virus 1 infection
  Transcriptional activation of mitochondrial biogenesis
HATs acetylate histones
UCH proteinases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1236
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Disorders of Intracellular Cobalamin Metabolism Pathogenic rs397515485, rs397515487 RCV002513743
RCV002513745
Methylmalonic acidemia with homocystinuria, type cblX Pathogenic; Likely pathogenic rs869312686, rs2521446197, rs398122908, rs318240758, rs397515485, rs397515487 RCV000209921
RCV003985697
RCV000032896
RCV000032897
RCV000057506
RCV000057508
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2314659 RCV005925283
Autosomal recessive disease Benign; Likely benign rs3027884 RCV005625427
Cervical cancer Benign rs2314659 RCV005925284
Cobalamin C disease Conflicting classifications of pathogenicity rs397515486 RCV001199845
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
beta Thalassemia Associate 36574763
Burkitt Lymphoma Associate 27009953
Calcinosis Associate 17154367
Cognition Disorders Associate 25167861
Colorectal Neoplasms Associate 22371484
Dystonia Associate 20200153
Encephalitis Varicella Zoster Associate 17578910
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Associate 18520591
Epilepsies Partial Associate 37264743
Epilepsy Associate 37264743