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

    Gene ID: 54985, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 18.6), prostate (RPKM 18.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HCFC1R1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3022620..3024286, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3049192..3050858, complement)
    RS_2024_09 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)

    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_2024_08

    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
      B4DES3, J3KNY1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWW0.1 GenPept UniProtKB/Swiss-Prot:Q9NWW0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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