KLHL17 kelch like family member 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL17provided by HGNC
Official Full Name: kelch like family member 17provided by HGNC
Primary source: HGNC:HGNC:24023
See related: Ensembl:ENSG00000187961 MIM:619262; AllianceGenome:HGNC:24023
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: AF
Summary: The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
Expression: Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 2.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (960584..965719)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (389374..394430)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (895964..901099)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

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

RH103110 (e-PCR)
- UniSTS:97444

SHGC-146903 (e-PCR)
- UniSTS:172712

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables POZ domain binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation protein catabolic process at postsynapse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kelch-like protein 17

Names: actinfilin; kelch-like 17

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_027546.1 RefSeqGene

Range

4998..10133

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_198317.3 → NP_938073.1 kelch-like protein 17

See identical proteins and their annotated locations for NP_938073.1

Status: REVIEWED

Source sequence(s)

AA774437, AL645608, AY423763, CA432461

Consensus CDS

CCDS30550.1

UniProtKB/Swiss-Prot

Q5SV94, Q6TDP4

Related

ENSP00000343930.3, ENST00000338591.8

Conserved Domains (5) summary

smart00612
Location:579 → 623

Kelch; Kelch domain

PHA03098
Location:92 → 558

PHA03098; kelch-like protein; Provisional

sd00038
Location:426 → 469

Kelch; KELCH repeat [structural motif]

cd18246
Location:53 → 191

BTB_POZ_KLHL17_actinfilin; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 17 (KLHL17)

cd18456
Location:189 → 290

BACK_KLHL17; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 17 (KLHL17)