Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Cellular component
- GO: Biological process
- GO: Molecular function
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
External references
Supporting evidence
ID History
- Gene history

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Gene: KLHL1 ENSG00000150361

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Description

kelch like family member 1 [Source:HGNC Symbol;Acc:HGNC:6352]

Gene Synonyms

FLJ30047, KIAA1490, MRP2

Location

Chromosome 13: 69,700,453-70,108,493 reverse strand.

GRCh38:CM000675.2

About this gene

This gene has 4 transcripts (splice variants), 130 orthologues and 54 paralogues.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000377844.9	KLHL1-201	4105	748aa	ENSP00000367075.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9445	Q9NR64	NM_020866.3	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00001132301.1	KLHL1-204	4290	748aa	ENSP00000810819.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9445	-	-	Not part of the MANE transcript set but a version of a MANE Select or MANE Plus Clinical transcripts with maximal 3’ and/or 5’ UTR extension.Ensembl Canonical Extended, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000545028.3	KLHL1-202	4107	687aa	ENSP00000439602.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS73582	F5H1J3	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00001098805.1	KLHL1-203	4141	731aa	ENSP00000768611.1	Nonsense mediated decay		-	-	-

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Summary

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