Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3054
Gene name Gene Name - the full gene name approved by the HGNC.
Host cell factor C1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HCFC1
Synonyms (NCBI Gene) Gene synonyms aliases
CFF, HCF, HCF-1, HCF1, HFC1, MAHCX, MRX3, PPP1R89, VCAF, XLID3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MAHCX
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
E2F4 Activation 14532282
YY1 Unknown 23000143
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0003682 Function Chromatin binding IDA 21285374
GO:0003713 Function Transcription coactivator activity IBA 21873635
GO:0003713 Function Transcription coactivator activity IMP 10675337, 23629655
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300019 4839 ENSG00000172534
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability, Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, X-LINKED 3, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
24011988, 23000143
Associations from Text Mining
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