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HCFC1R1 host cell factor C1 regulator 1 [ Homo sapiens (human) ]

Gene ID: 54985, updated on 3-Apr-2024

Summary

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Official Symbol
HCFC1R1provided by HGNC
Official Full Name
host cell factor C1 regulator 1provided by HGNC
Primary source
HGNC:HGNC:21198
See related
Ensembl:ENSG00000103145 MIM:618818; AllianceGenome:HGNC:21198
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPIP
Summary
Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 18.6), prostate (RPKM 18.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3022620..3024286, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3049192..3050858, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3072621..3074287, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3065208-3065772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3066992-3067588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3067589-3068185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3068783-3069378 Neighboring gene claudin 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:3070698-3071897 Neighboring gene TNF receptor superfamily member 12A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3073371-3074015 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3074016-3074659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3076940-3077746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7105 Neighboring gene THO complex subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3079359-3080163 Neighboring gene BICD family like cargo adaptor 2 Neighboring gene uncharacterized LOC100128770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3087655-3088542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3097443-3098022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3099514-3100106 Neighboring gene matrix metallopeptidase 25 Neighboring gene sialidase-like Neighboring gene MMP25 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7111

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. HPIP expression predicts chemoresistance and poor clinical outcomes in patients with epithelial ovarian cancer. Wang Y, et al. Hum Pathol, 2017 Feb. PMID 27818289
  2. HPIP promotes thyroid cancer cell growth, migration and EMT through activating PI3K/AKT signaling pathway. Wang SC, et al. Biomed Pharmacother, 2015 Oct. PMID 26463629
  3. HPIP is upregulated in colorectal cancer and regulates colorectal cancer cell proliferation, apoptosis and invasion. Feng Y, et al. Sci Rep, 2015 Mar 24. PMID 25800793, Free PMC Article
  4. Interaction of HCF-1 with a cellular nuclear export factor. Mahajan SS, et al. J Biol Chem, 2002 Nov 15. PMID 12235138, Free PMC Article
  5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HPIP overexpression is an independent predictor of platinum-based chemotherapy resistance in epithelial ovarian neoplasms.
    Title: HPIP expression predicts chemoresistance and poor clinical outcomes in patients with epithelial ovarian cancer.
  2. HPIP promotes thyroid cancer cell growth, migration and epithelial mesenchymal transformation through activating PI3K/AKT signaling pathway.
    Title: HPIP promotes thyroid cancer cell growth, migration and EMT through activating PI3K/AKT signaling pathway.
  3. HPIP is upregulated in colorectal cancer and regulates colorectal cancer cell proliferation, apoptosis and invasion
    Title: HPIP is upregulated in colorectal cancer and regulates colorectal cancer cell proliferation, apoptosis and invasion.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  6. HPIP regulates HCF-1 activity by modulating its subcellular localization
    Title: Interaction of HCF-1 with a cellular nuclear export factor.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20568, MGC70711, MGC99622

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
host cell factor C1 regulator 1
Names
HCF-1 beta-propeller-interacting protein
host cell factor C1 regulator 1 (XPO1 dependent)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001002017.2 → NP_001002017.1  host cell factor C1 regulator 1 isoform 2

    See identical proteins and their annotated locations for NP_001002017.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Both variants 2 and 5 encode the same isoform.
    Source sequence(s)
    BC064026, BM790570, BU633901
    Consensus CDS
    CCDS32375.1
    UniProtKB/TrEMBL
    B4DES3
    Related
    ENSP00000459178.1, ENST00000574151.5
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 113
    HPIP; HCF-1 beta-propeller-interacting protein family

  2. NM_001002018.2 → NP_001002018.1  host cell factor C1 regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_001002018.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 3, and 4 encode the same isoform (1).
    Source sequence(s)
    BC064026, BM790570, BU633901
    Consensus CDS
    CCDS10490.1
    UniProtKB/Swiss-Prot
    D3DUA7, Q68EN7, Q9NWW0
    UniProtKB/TrEMBL
    I3L174
    Related
    ENSP00000458628.1, ENST00000573842.1
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 132
    HPIP; HCF-1 beta-propeller-interacting protein family

  3. NM_001288665.1 → NP_001275594.1  host cell factor C1 regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_001275594.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 3, and 4 encode the same isoform (1).
    Source sequence(s)
    BC064026, BM790570, BU633901
    Consensus CDS
    CCDS10490.1
    UniProtKB/Swiss-Prot
    D3DUA7, Q68EN7, Q9NWW0
    UniProtKB/TrEMBL
    I3L174
    Related
    ENSP00000460639.1, ENST00000574980.5
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 132
    HPIP; HCF-1 beta-propeller-interacting protein family

  4. NM_001288666.1 → NP_001275595.1  host cell factor C1 regulator 1 isoform 2

    See identical proteins and their annotated locations for NP_001275595.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Both variants 2 and 5 encode the same isoform.
    Source sequence(s)
    BC064026, BM790570, BU633901
    Consensus CDS
    CCDS32375.1
    UniProtKB/TrEMBL
    B4DES3
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 113
    HPIP; HCF-1 beta-propeller-interacting protein family

  5. NM_001288667.1 → NP_001275596.1  host cell factor C1 regulator 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter internal segment, compared to isoform 1.
    Source sequence(s)
    BC064026, BM790570, BU633901, CN427571
    Consensus CDS
    CCDS73815.1
    UniProtKB/TrEMBL
    B4DES3, J3KNY1
    Related
    ENSP00000346708.3, ENST00000354679.3
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 130
    HPIP; HCF-1 beta-propeller-interacting protein family

  6. NM_001288668.1 → NP_001275597.1  host cell factor C1 regulator 1 isoform 4

    See identical proteins and their annotated locations for NP_001275597.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC064026, BM790570, BU633901, CN427571
    UniProtKB/Swiss-Prot
    Q9NWW0
    Related
    ENST00000573095.1
    Conserved Domains (1) summary
    pfam15226
    Location:1 → 71
    HPIP; HCF-1 beta-propeller-interacting protein family

  7. NM_001308070.1 → NP_001294999.1  host cell factor C1 regulator 1 isoform 5

    See identical proteins and their annotated locations for NP_001294999.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in the 5' UTR which results in the use of a downstream start codon compared to variant 1. The encoded isoform (5) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC108134, BU623445, BU633901
    Consensus CDS
    CCDS76810.1
    UniProtKB/TrEMBL
    I3L1N5
    Related
    ENSP00000458971.1, ENST00000572355.5
    Conserved Domains (1) summary
    pfam15226
    Location:1 → 92
    HPIP; HCF-1 beta-propeller-interacting protein family

  8. NM_017885.4 → NP_060355.1  host cell factor C1 regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_060355.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3, and 4 encode the same isoform.
    Source sequence(s)
    AC108134
    Consensus CDS
    CCDS10490.1
    UniProtKB/Swiss-Prot
    D3DUA7, Q68EN7, Q9NWW0
    UniProtKB/TrEMBL
    I3L174
    Related
    ENSP00000248089.4, ENST00000248089.8
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 132
    HPIP; HCF-1 beta-propeller-interacting protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    3022620..3024286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522559.4 → XP_011520861.1  host cell factor C1 regulator 1 isoform X2

    See identical proteins and their annotated locations for XP_011520861.1

    Conserved Domains (1) summary
    pfam15226
    Location:1 → 71
    HPIP; HCF-1 beta-propeller-interacting protein family

  2. XM_047434301.1 → XP_047290257.1  host cell factor C1 regulator 1 isoform X2

  3. XM_017023384.2 → XP_016878873.1  host cell factor C1 regulator 1 isoform X1

    UniProtKB/TrEMBL
    B4DES3, J3KNY1
    Conserved Domains (1) summary
    pfam15226
    Location:2 → 130
    HPIP; HCF-1 beta-propeller-interacting protein family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    3049192..3050858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380624.1 → XP_054236599.1  host cell factor C1 regulator 1 isoform X2

  2. XM_054380625.1 → XP_054236600.1  host cell factor C1 regulator 1 isoform X2

  3. XM_054380623.1 → XP_054236598.1  host cell factor C1 regulator 1 isoform X1

    UniProtKB/TrEMBL
    J3KNY1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWW0.1 GenPept UniProtKB/Swiss-Prot:Q9NWW0

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