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KLHL41

GENERAL INFORMATION

Gene name

 KLHL41

Gene description

 Kelch-like family member 41

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Distinct cytoplasmic expression in skeletal muscle cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 3 antibodies.
HPA021165 , HPA021753 , HPA021760
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION

Gene name

 KLHL41 (HGNC Symbol)

Synonyms

 KBTBD10, Krp1, SARCOSIN

Description

 Kelch-like family member 41 (HGNC Symbol)

Entrez gene summary

 This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]

Chromosome

 2

Cytoband

 q31.1

Chromosome location (bp)

 169509702 - 169526262

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000239474 (version 83.38)

Entrez gene

 10324

UniProt

 O60662 (UniProt - Evidence at protein level)

neXtProt

 NX_O60662

Antibodypedia

 KLHL41 antibodies

PROTEIN BROWSER
KLHL41-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
KLHL41-001
ENSP00000284669
ENST00000284669
O60662 [Direct mapping]
Kelch-like protein 41
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0006941 [striated muscle contraction]
GO:0016567 [protein ubiquitination]
GO:0030239 [myofibril assembly]
GO:0031143 [pseudopodium]
GO:0031275 [regulation of lateral pseudopodium assembly]
GO:0031430 [M band]
GO:0031463 [Cul3-RING ubiquitin ligase complex]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035914 [skeletal muscle cell differentiation]
GO:0045214 [sarcomere organization]
GO:0045661 [regulation of myoblast differentiation]
GO:0048741 [skeletal muscle fiber development]
GO:2000291 [regulation of myoblast proliferation]
GO:2001014 [regulation of skeletal muscle cell differentiation]
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 606 aa
68 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.