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Q2TBA0

- KLH40_HUMAN

UniProt

Q2TBA0 - KLH40_HUMAN

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Protein

Kelch-like protein 40

Gene
KLHL40, KBTBD5, SRYP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for skeletal muscle development.1 Publication

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 40
Alternative name(s):
Kelch repeat and BTB domain-containing protein 5
Sarcosynapsin
Gene namesi
Name:KLHL40
Synonyms:KBTBD5, SRYP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:30372. KLHL40.

Subcellular locationi

CytoplasmmyofibrilsarcomereA band 1 Publication

GO - Cellular componenti

  1. A band Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 8 (NEM8) [MIM:615348]: A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341D → H in NEM8. 1 Publication
VAR_069836
Natural varianti86 – 861L → P in NEM8. 1 Publication
VAR_069837
Natural varianti194 – 1941V → E in NEM8. 1 Publication
VAR_069838
Natural varianti201 – 2011W → L in NEM8. 1 Publication
VAR_069839
Natural varianti311 – 3111R → L in NEM8. 1 Publication
VAR_069840
Natural varianti397 – 3971P → L in NEM8. 1 Publication
VAR_069841
Natural varianti455 – 4551H → R in NEM8. 1 Publication
VAR_069842
Natural varianti469 – 4691G → C in NEM8. 1 Publication
VAR_069843
Natural varianti506 – 5061T → P in NEM8. 1 Publication
VAR_069844
Natural varianti528 – 5281E → K in NEM8. 1 Publication
VAR_069845
Natural varianti538 – 5381A → P in NEM8. 1 Publication
VAR_069846
Natural varianti588 – 5881E → K in NEM8. 1 Publication
VAR_069847

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

MIMi615348. phenotype.
Orphaneti171430. Severe congenital nemaline myopathy.
PharmGKBiPA134908127.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 621621Kelch-like protein 40PRO_0000274235Add
BLAST

Proteomic databases

PaxDbiQ2TBA0.
PRIDEiQ2TBA0.

PTM databases

PhosphoSiteiQ2TBA0.

Expressioni

Tissue specificityi

Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Aslo expressed in fetal and adult heart.1 Publication

Gene expression databases

BgeeiQ2TBA0.
CleanExiHS_KBTBD5.
GenevestigatoriQ2TBA0.

Organism-specific databases

HPAiHPA024463.

Interactioni

Protein-protein interaction databases

IntActiQ2TBA0. 1 interaction.
MINTiMINT-8330030.

Structurei

Secondary structure

1
621
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi317 – 3248
Beta strandi327 – 3326
Turni333 – 3364
Beta strandi337 – 3426
Beta strandi349 – 3557
Beta strandi361 – 3699
Beta strandi374 – 3763
Beta strandi378 – 3869
Turni387 – 3904
Beta strandi391 – 3944
Beta strandi398 – 4003
Beta strandi402 – 4043
Beta strandi406 – 4105
Beta strandi413 – 4175
Beta strandi420 – 4234
Beta strandi432 – 4365
Turni437 – 4404
Beta strandi441 – 4444
Beta strandi456 – 4605
Beta strandi463 – 4675
Beta strandi480 – 4845
Turni485 – 4884
Beta strandi489 – 4924
Beta strandi504 – 5085
Beta strandi511 – 5188
Beta strandi520 – 53112
Turni532 – 5354
Beta strandi536 – 5405
Beta strandi551 – 5555
Beta strandi558 – 56912
Beta strandi575 – 58713
Turni588 – 5914
Beta strandi592 – 5987
Beta strandi607 – 6137
Helixi615 – 6173
Beta strandi618 – 6203

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ASCX-ray1.78A314-621[»]
ProteinModelPortaliQ2TBA0.
SMRiQ2TBA0. Positions 29-262, 314-621.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 9866BTBAdd
BLAST
Domaini133 – 239107BACKAdd
BLAST
Repeati360 – 41253Kelch 1Add
BLAST
Repeati413 – 46250Kelch 2Add
BLAST
Repeati463 – 51048Kelch 3Add
BLAST
Repeati512 – 55746Kelch 4Add
BLAST
Repeati559 – 61355Kelch 5Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi270 – 2756Poly-Lys

Sequence similaritiesi

Contains 1 BTB (POZ) domain.
Contains 5 Kelch repeats.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG290520.
HOGENOMiHOG000231966.
HOVERGENiHBG052215.
InParanoidiQ2TBA0.
KOiK10473.
OMAiVYGHAVL.
OrthoDBiEOG7M6D6S.
PhylomeDBiQ2TBA0.
TreeFamiTF351653.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR017096. Kelch-like_gigaxonin-typ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q2TBA0-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV    50
LAACSPYFRA RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS 100
VQDLFAAAHR FQIPSIFTIC VSFLQKRLCL SNCLAVFRLG LLLDCARLAV 150
AARDFICAHF TLVARDADFL GLSADELIAI ISSDGLNVEK EEAVFEAVMR 200
WAGSGDAEAQ AERQRALPTV FESVRCRLLP RAFLESRVER HPLVRAQPEL 250
LRKVQMVKDA HEGRITTLRK KKKGKDGAGA KEADKGTSKA KAEEDEEAER 300
ILPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSNQVPKN 350
HVSLVTKENQ VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS 400
PRCLFGLGEA LNSIYVVGGR EIKDGERCLD SVMCYDRLSF KWGESDPLPY 450
VVYGHTVLSH MDLVYVIGGK GSDRKCLNKM CVYDPKKFEW KELAPMQTAR 500
SLFGATVHDG RIIVAAGVTD TGLTSSAEVY SITDNKWAPF EAFPQERSSL 550
SLVSLVGTLY AIGGFATLET ESGELVPTEL NDIWRYNEEE KKWEGVLREI 600
AYAAGATFLP VRLNVLCLTK M 621
Length:621
Mass (Da):69,257
Last modified:February 6, 2007 - v2
Checksum:i53492478F08A5A2D
GO
Isoform 2 (identifier: Q2TBA0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     444-604: ESDPLPYVVY...GVLREIAYAA → HRHRADQFCRSVQHHRQQVGTLRGLPTGA
     605-621: Missing.

Note: No experimental confirmation available.

Show »
Length:472
Mass (Da):52,893
Checksum:i6A64676A03325797
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341D → H in NEM8. 1 Publication
VAR_069836
Natural varianti86 – 861L → P in NEM8. 1 Publication
VAR_069837
Natural varianti194 – 1941V → E in NEM8. 1 Publication
VAR_069838
Natural varianti201 – 2011W → L in NEM8. 1 Publication
VAR_069839
Natural varianti311 – 3111R → L in NEM8. 1 Publication
VAR_069840
Natural varianti345 – 3451N → S.2 Publications
Corresponds to variant rs6805421 [ dbSNP | Ensembl ].
VAR_030214
Natural varianti397 – 3971P → L in NEM8. 1 Publication
VAR_069841
Natural varianti455 – 4551H → R in NEM8. 1 Publication
VAR_069842
Natural varianti469 – 4691G → C in NEM8. 1 Publication
VAR_069843
Natural varianti506 – 5061T → P in NEM8. 1 Publication
VAR_069844
Natural varianti528 – 5281E → K in NEM8. 1 Publication
VAR_069845
Natural varianti538 – 5381A → P in NEM8. 1 Publication
VAR_069846
Natural varianti588 – 5881E → K in NEM8. 1 Publication
VAR_069847
Natural varianti617 – 6171C → R.1 Publication
Corresponds to variant rs123509 [ dbSNP | Ensembl ].
VAR_030215

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei444 – 604161ESDPL…IAYAA → HRHRADQFCRSVQHHRQQVG TLRGLPTGA in isoform 2. VSP_022681Add
BLAST
Alternative sequencei605 – 62117Missing in isoform 2. VSP_022682Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY177390 mRNA. Translation: AAO06908.1.
AY176040 mRNA. Translation: AAO22141.1.
AK056577 mRNA. Translation: BAB71222.1.
BC110491 mRNA. Translation: AAI10492.1.
CCDSiCCDS2703.1. [Q2TBA0-1]
RefSeqiNP_689606.2. NM_152393.3. [Q2TBA0-1]
UniGeneiHs.350288.

Genome annotation databases

EnsembliENST00000287777; ENSP00000287777; ENSG00000157119. [Q2TBA0-1]
GeneIDi131377.
KEGGihsa:131377.
UCSCiuc003clv.1. human. [Q2TBA0-1]

Polymorphism databases

DMDMi125950763.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY177390 mRNA. Translation: AAO06908.1 .
AY176040 mRNA. Translation: AAO22141.1 .
AK056577 mRNA. Translation: BAB71222.1 .
BC110491 mRNA. Translation: AAI10492.1 .
CCDSi CCDS2703.1. [Q2TBA0-1 ]
RefSeqi NP_689606.2. NM_152393.3. [Q2TBA0-1 ]
UniGenei Hs.350288.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4ASC X-ray 1.78 A 314-621 [» ]
ProteinModelPortali Q2TBA0.
SMRi Q2TBA0. Positions 29-262, 314-621.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q2TBA0. 1 interaction.
MINTi MINT-8330030.

PTM databases

PhosphoSitei Q2TBA0.

Polymorphism databases

DMDMi 125950763.

Proteomic databases

PaxDbi Q2TBA0.
PRIDEi Q2TBA0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000287777 ; ENSP00000287777 ; ENSG00000157119 . [Q2TBA0-1 ]
GeneIDi 131377.
KEGGi hsa:131377.
UCSCi uc003clv.1. human. [Q2TBA0-1 ]

Organism-specific databases

CTDi 131377.
GeneCardsi GC03P042727.
HGNCi HGNC:30372. KLHL40.
HPAi HPA024463.
MIMi 615340. gene.
615348. phenotype.
neXtProti NX_Q2TBA0.
Orphaneti 171430. Severe congenital nemaline myopathy.
PharmGKBi PA134908127.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG290520.
HOGENOMi HOG000231966.
HOVERGENi HBG052215.
InParanoidi Q2TBA0.
KOi K10473.
OMAi VYGHAVL.
OrthoDBi EOG7M6D6S.
PhylomeDBi Q2TBA0.
TreeFami TF351653.

Miscellaneous databases

ChiTaRSi KBTBD5. human.
GenomeRNAii 131377.
NextBioi 82900.
PROi Q2TBA0.
SOURCEi Search...

Gene expression databases

Bgeei Q2TBA0.
CleanExi HS_KBTBD5.
Genevestigatori Q2TBA0.

Family and domain databases

Gene3Di 2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR017096. Kelch-like_gigaxonin-typ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view ]
Pfami PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view ]
PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure, gene organization and expression analysis of human sarcosynapsin."
    Goudou D., Bitoun M., Rieger F., Perin J.-P., Alliel P.M.
    Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Heart.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-345.
    Tissue: Tongue.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS SER-345 AND ARG-617.
  4. Cited for: X-RAY CRYSTALLOGRAPHY (1.78 ANGSTROMS) OF 314-621.
  5. "Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy."
    Ravenscroft G., Miyatake S., Lehtokari V.L., Todd E.J., Vornanen P., Yau K.S., Hayashi Y.K., Miyake N., Tsurusaki Y., Doi H., Saitsu H., Osaka H., Yamashita S., Ohya T., Sakamoto Y., Koshimizu E., Imamura S., Yamashita M.
    , Ogata K., Shiina M., Bryson-Richardson R.J., Vaz R., Ceyhan O., Brownstein C.A., Swanson L.C., Monnot S., Romero N.B., Amthor H., Kresoje N., Sivadorai P., Kiraly-Borri C., Haliloglu G., Talim B., Orhan D., Kale G., Charles A.K., Fabian V.A., Davis M.R., Lammens M., Sewry C.A., Manzur A., Muntoni F., Clarke N.F., North K.N., Bertini E., Nevo Y., Willichowski E., Silberg I.E., Topaloglu H., Beggs A.H., Allcock R.J., Nishino I., Wallgren-Pettersson C., Matsumoto N., Laing N.G.
    Am. J. Hum. Genet. 93:6-18(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NEM8 HIS-34; PRO-86; GLU-194; LEU-201; LEU-311; LEU-397; ARG-455; CYS-469; PRO-506; LYS-528; PRO-538 AND LYS-588, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiKLH40_HUMAN
AccessioniPrimary (citable) accession number: Q2TBA0
Secondary accession number(s): Q86SI1, Q96MR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: July 9, 2014
This is version 69 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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