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CWF19L1 CWF19 like cell cycle control factor 1 [ Homo sapiens (human) ]

Gene ID: 55280, updated on 18-Aug-2020

Summary

Official Symbol
CWF19L1provided by HGNC
Official Full Name
CWF19 like cell cycle control factor 1provided by HGNC
Primary source
HGNC:HGNC:25613
See related
Ensembl:ENSG00000095485 MIM:616120
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C19L1; hDrn1; SCAR17
Summary
This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression
Ubiquitous expression in bone marrow (RPKM 8.4), testis (RPKM 8.0) and 25 other tissues See more
Orthologs

Genomic context

See CWF19L1 in Genome Data Viewer
Location:
10q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (100232298..100267638, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101992055..102027437, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ER lipid raft associated 1 Neighboring gene component of inhibitor of nuclear factor kappa B kinase complex Neighboring gene small nucleolar RNA, H/ACA box 12 Neighboring gene RNA, U6 small nuclear 422, pseudogene Neighboring gene prohibitin pseudogene 9 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 2 Neighboring gene polycystin 2 like 1, transient receptor potential cation channel

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10998

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA lariat debranching enzyme activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
post-mRNA release spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
CWF19-like protein 1
Names
CWF19 like 1, cell cycle control
CWF19-like 1 cell cycle control
human Dbr1 associated ribonuclease 1

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.

Genomic

  1. NG_041811.1 RefSeqGene

    Range
    5044..40384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303404.2NP_001290333.1  CWF19-like protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AK001860, AK097895, AK225590, AK295303, BM476132, DB524268, DC299678
    UniProtKB/Swiss-Prot
    Q69YN2
    Conserved Domains (3) summary
    cd07380
    Location:9229
    MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
    pfam04676
    Location:422495
    CwfJ_C_2; Protein similar to CwfJ C-terminus 2
    cl00228
    Location:328427
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  2. NM_001303405.2NP_001290334.1  CWF19-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001290334.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5'-terminal exon, which results in use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AK097895, AL832515, BM476132, DB524268, DC299678
    UniProtKB/Swiss-Prot
    Q69YN2
    Conserved Domains (3) summary
    cd07380
    Location:1092
    MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
    pfam04676
    Location:310398
    CwfJ_C_2; Protein similar to CwfJ C-terminus 2
    cl00228
    Location:191286
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  3. NM_001303406.2NP_001290335.1  CWF19-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001290335.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR, lacks part of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AK097895, AK295303, BM476132, DB524268
    UniProtKB/Swiss-Prot
    Q69YN2
    Conserved Domains (3) summary
    cd07380
    Location:1092
    MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
    pfam04676
    Location:310398
    CwfJ_C_2; Protein similar to CwfJ C-terminus 2
    cl00228
    Location:191286
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  4. NM_001303407.2NP_001290336.1  CWF19-like protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001290336.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR, lacks part of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK097895, BM476132, DB524268
    UniProtKB/TrEMBL
    D3DR67
    Conserved Domains (2) summary
    pfam04676
    Location:202290
    CwfJ_C_2; Protein similar to CwfJ C-terminus 2
    cl00228
    Location:83178
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...
  5. NM_018294.6NP_060764.3  CWF19-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060764.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK001860, AK097895, BM476132, DB524268, DC299678
    Consensus CDS
    CCDS7489.1
    UniProtKB/Swiss-Prot
    Q69YN2
    UniProtKB/TrEMBL
    A0A0S2Z5E9
    Related
    ENSP00000326411.6, ENST00000354105.10
    Conserved Domains (3) summary
    cd07380
    Location:9229
    MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain
    pfam04676
    Location:447535
    CwfJ_C_2; Protein similar to CwfJ C-terminus 2
    cl00228
    Location:328423
    HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    100232298..100267638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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