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

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; AllianceGenome:HGNC:25613
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: mouse all
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Genomic context

Location:: 10q24.31

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (100232298..100267638, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (101116556..101151894, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (101992055..102027395, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
Title: Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Title: Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
Title: Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Title: A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Our report corroborates that loss-of-function mutations in CWF19Ll lead to early onset cerebellar ataxia and (progressive) cerebellar atrophy.
Title: Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Two pathogenic variants in CWF19L1 were identified in a patient with autosomal recessive cerebellar ataxia. c.37G>C variant was inherited from the father and the c.946A>T variant from the mother.
Title: Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1.
Title: Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein.
CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay
Title: Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation.
Title: The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.

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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

Associated conditions

Description	Tests
Autosomal recessive spinocerebellar ataxia 17 MedGen: C4015301 OMIM: 616127 GeneReviews: Not available	Compare labs

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

D10S275 (e-PCR)
- UniSTS:147992

MARC_4339-4340:996679552:1 (e-PCR)
- UniSTS:269360

D8S2279 (e-PCR)
- UniSTS:473907

RH66207 (e-PCR)
- UniSTS:70242

D16S325 (e-PCR)
- UniSTS:147089

L17877 (e-PCR)
- UniSTS:61334

SHGC-30533 (e-PCR)
- UniSTS:22717

SHGC-80065 (e-PCR)
- UniSTS:102123

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA lariat debranching enzyme activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of post-mRNA release spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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.

Genomic

NG_041811.1 RefSeqGene

Range

5044..40384

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001303404.2 → NP_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:9 → 229

MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain

pfam04676
Location:422 → 495

CwfJ_C_2; Protein similar to CwfJ C-terminus 2

cl00228
Location:328 → 427

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 ...
NM_001303405.2 → NP_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:10 → 92

MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain

pfam04676
Location:310 → 398

CwfJ_C_2; Protein similar to CwfJ C-terminus 2

cl00228
Location:191 → 286

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 ...
NM_001303406.2 → NP_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:10 → 92

MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain

pfam04676
Location:310 → 398

CwfJ_C_2; Protein similar to CwfJ C-terminus 2

cl00228
Location:191 → 286

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 ...
NM_001303407.2 → NP_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

Conserved Domains (2) summary

pfam04676
Location:202 → 290

CwfJ_C_2; Protein similar to CwfJ C-terminus 2

cl00228
Location:83 → 178

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 ...
NM_018294.6 → NP_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

B4DHX1, D3DR66, Q5W0I3, Q69YN2, Q96HC3, Q9H865, Q9NV13

UniProtKB/TrEMBL

A0A0S2Z5E9

Related

ENSP00000326411.6, ENST00000354105.10

Conserved Domains (3) summary

cd07380
Location:9 → 229

MPP_CWF19_N; Schizosaccharomyces pombe CWF19 and related proteins, N-terminal metallophosphatase domain

pfam04676
Location:447 → 535

CwfJ_C_2; Protein similar to CwfJ C-terminus 2

cl00228
Location:328 → 423

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 ...