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C1orf43 chromosome 1 open reading frame 43 [ Homo sapiens (human) ]

Gene ID: 25912, updated on 21-Dec-2019

Summary

Official Symbol
C1orf43provided by HGNC
Official Full Name
chromosome 1 open reading frame 43provided by HGNC
Primary source
HGNC:HGNC:29876
See related
Ensembl:ENSG00000143612 MIM:617428
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
NICE3; NICE-3; S863-3; HSPC012; NS5ATP4
Expression
Ubiquitous expression in kidney (RPKM 53.9), fat (RPKM 47.2) and 25 other tissues See more
Orthologs

Genomic context

See C1orf43 in Genome Data Viewer
Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154206720..154220797, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154179183..154193273, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 190b Neighboring gene chromosome 1 open reading frame 189 Neighboring gene ubiquitin associated protein 2 like Neighboring gene small nucleolar RNA, H/ACA box 58B Neighboring gene HCLS1 associated protein X-1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111001, DKFZp586G1722

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
uncharacterized protein C1orf43
Names
HCV NS5A-transactivated protein 4
hepatitis C virus NS5A-transactivated protein 4

NCBI Reference Sequences (RefSeq)

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_001098616.3NP_001092086.1  uncharacterized protein C1orf43 isoform 3

    See identical proteins and their annotated locations for NP_001092086.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    BC000152, BU072807
    Consensus CDS
    CCDS41404.1
    UniProtKB/Swiss-Prot
    Q9BWL3
    Related
    ENSP00000357507.4, ENST00000368521.9
    Conserved Domains (1) summary
    pfam07406
    Location:6188
    NICE-3; NICE-3 protein
  2. NM_001297717.2NP_001284646.1  uncharacterized protein C1orf43 isoform 4

    See identical proteins and their annotated locations for NP_001284646.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate in-frame exon and lacks two exons, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC088353, BU072807
    UniProtKB/Swiss-Prot
    Q9BWL3
    Related
    ENSP00000492072.1, ENST00000640799.1
    Conserved Domains (1) summary
    pfam07406
    Location:6151
    NICE-3; NICE-3 protein
  3. NM_001297718.2NP_001284647.1  uncharacterized protein C1orf43 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains multiple differences in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC006514, BG478941, BU072807
    UniProtKB/Swiss-Prot
    Q9BWL3
    Conserved Domains (1) summary
    pfam07406
    Location:1153
    NICE-3; NICE-3 protein
  4. NM_001297720.2NP_001284649.1  uncharacterized protein C1orf43 isoform 6

    See identical proteins and their annotated locations for NP_001284649.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains an alternate in-frame exon and lacks an in-frame exon, compared to variant 1. The encoded isoform (6) is longer than isoform 1.
    Source sequence(s)
    AJ243663, AL540989, BC000152, BU072807
    Consensus CDS
    CCDS72924.1
    UniProtKB/Swiss-Prot
    Q9BWL3
    UniProtKB/TrEMBL
    X6R6S3
    Related
    ENSP00000357505.1, ENST00000368519.5
    Conserved Domains (1) summary
    pfam07406
    Location:6170
    NICE-3; NICE-3 protein
  5. NM_001297721.1NP_001284650.1  uncharacterized protein C1orf43 isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks a portion of the 3' coding region and its transcription extends past a splice site used in variant 1, resulting in a different 3' UTR. The encoded isoform (7) has a shorter C-terminus than isoform 1.
    Source sequence(s)
    AK290583, AL590431, CD247026
    Consensus CDS
    CCDS76219.1
    UniProtKB/Swiss-Prot
    Q9BWL3
    UniProtKB/TrEMBL
    X6R6F3
    Related
    ENSP00000357502.1, ENST00000368516.1
    Conserved Domains (1) summary
    pfam07406
    Location:6154
    NICE-3; NICE-3 protein
  6. NM_001297723.1NP_001284652.1  uncharacterized protein C1orf43 isoform 8

    See identical proteins and their annotated locations for NP_001284652.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) contains an alternate in-frame exon, lacks a portion of the 3' coding region, and its transcription extends past a splice site used in variant 1, resulting in a different 3' UTR. The encoded isoform (8) is shorter than isoform 1.
    Source sequence(s)
    AK290583, AL590431, BC008306
    Consensus CDS
    CCDS76220.1
    UniProtKB/Swiss-Prot
    Q9BWL3
    Related
    ENSP00000357504.1, ENST00000368518.5
    Conserved Domains (1) summary
    pfam07406
    Location:6188
    NICE-3; NICE-3 protein
  7. NM_015449.4NP_056264.1  uncharacterized protein C1orf43 isoform 1

    See identical proteins and their annotated locations for NP_056264.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC006514, BU072807
    Consensus CDS
    CCDS1061.1
    UniProtKB/Swiss-Prot
    Q9BWL3
    UniProtKB/TrEMBL
    Q09GN0
    Related
    ENSP00000271925.5, ENST00000350592.7
    Conserved Domains (1) summary
    pfam07406
    Location:6154
    NICE-3; NICE-3 protein
  8. NM_138740.4NP_620077.1  uncharacterized protein C1orf43 isoform 2

    See identical proteins and their annotated locations for NP_620077.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AJ243663, BU072807
    Consensus CDS
    CCDS1062.1
    UniProtKB/Swiss-Prot
    Q9BWL3
    Related
    ENSP00000354496.4, ENST00000362076.8
    Conserved Domains (1) summary
    pfam07406
    Location:6136
    NICE-3; NICE-3 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    154206720..154220797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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