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Q9P2G3 (KLH14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kelch-like protein 14
Alternative name(s):
Protein interactor of Torsin-1A
Short name=Printor
Short name=Protein interactor of torsinA
Gene names
Name:KLHL14
Synonyms:KIAA1384
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length628 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with TOR1A, preferentially with the ATP-free form. Ref.6

Subcellular location

Cytoplasmcytosol. Endoplasmic reticulum membrane. Note: Colocalizes with TOR1A at the endoplasmic reticulum level. Ref.6

Sequence similarities

Contains 1 BACK (BTB/Kelch associated) domain.

Contains 1 BTB (POZ) domain.

Contains 6 Kelch repeats.

Sequence caution

The sequence BAA92622.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAG58061.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2G3-1)

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.
Isoform 2 (identifier: Q9P2G3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     358-388: MPYNSAHHCVVEVENFLFVLGGEDQWNPNGK → TGPHPISGKQESASSPEFRRRKTREFSNNTM
     389-628: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 628628Kelch-like protein 14
PRO_0000119117

Regions

Domain33 – 151119BTB
Domain210 – 27970BACK
Repeat323 – 37250Kelch 1
Repeat373 – 42452Kelch 2
Repeat425 – 47147Kelch 3
Repeat473 – 51846Kelch 4
Repeat520 – 57051Kelch 5
Repeat572 – 62049Kelch 6

Natural variations

Alternative sequence358 – 38831MPYNS…NPNGK → TGPHPISGKQESASSPEFRR RKTREFSNNTM in isoform 2.
VSP_041342
Alternative sequence389 – 628240Missing in isoform 2.
VSP_041343

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 8, 2005. Version 2.
Checksum: CF642DAA16F8A718

FASTA62870,714
        10         20         30         40         50         60 
MSRSGDRTST FDPSHSDNLL HGLNLLWRKQ LFCDVTLTAQ GQQFHCHKAV LASCSQYFRS 

        70         80         90        100        110        120 
LFSSHPPLGG GVGGQDGLGA PKDQQQPPQQ QPSQQQQPPP QEEPGTPSSS PDDKLLTSPR 

       130        140        150        160        170        180 
AINNLVLQGC SSIGLRLVLE YLYTANVTLS LDTVEEVLSV SKILHIPQVT KLCVQFLNDQ 

       190        200        210        220        230        240 
ISVQNYKQVC KIAALHGLEE TKKLANKYLV EDVLLLNFEE MRALLDSLPP PVESELALFQ 

       250        260        270        280        290        300 
MSVLWLEHDR ETRMQYAPDL MKRLRFALIP APELVERVQS VDFMRTDPVC QKLLLDAMNY 

       310        320        330        340        350        360 
HLMPFRQHCR QSLASRIRSN KKMLLLVGGL PPGPDRLPSN LVQYYDDEKK TWKILTIMPY 

       370        380        390        400        410        420 
NSAHHCVVEV ENFLFVLGGE DQWNPNGKHS TNFVSRYDPR FNSWIQLPPM QERRASFYAC 

       430        440        450        460        470        480 
RLDKHLYVIG GRNETGYLSS VECYNLETNE WRYVSSLPQP LAAHAGAVHN GKIYISGGVH 

       490        500        510        520        530        540 
NGEYVPWLYC YDPVMDVWAR KQDMNTKRAI HTLAVMNDRL YAIGGNHLKG FSHLDVMLVE 

       550        560        570        580        590        600 
CYDPKGDQWN ILQTPILEGR SGPGCAVLDD SIYLVGGYSW SMGAYKSSTI CYCPEKGTWT 

       610        620 
ELEGDVAEPL AGPACVTVIL PSCVPYNK 

« Hide

Isoform 2 [UniParc].

Checksum: 60A7411D7360FDA7
Show »

FASTA38843,792

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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 2).
Tissue: Kidney.
[5]"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. expand/collapse author list , 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] OF 126-628 (ISOFORM 1).
Tissue: Brain.
[6]"Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis."
Giles L.M., Li L., Chin L.S.
J. Biol. Chem. 284:21765-21775(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TOR1A, SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037805 mRNA. Translation: BAA92622.1. Different initiation.
AC025887 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01296.1.
CH471088 Genomic DNA. Translation: EAX01295.1.
BC021267 mRNA. Translation: AAH21267.1.
AK294996 mRNA. Translation: BAG58061.1. Different initiation.
CCDSCCDS32813.1. [Q9P2G3-1]
RefSeqNP_065856.1. NM_020805.1. [Q9P2G3-1]
UniGeneHs.446164.

3D structure databases

ProteinModelPortalQ9P2G3.
SMRQ9P2G3. Positions 14-303, 322-600.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121619. 2 interactions.
IntActQ9P2G3. 1 interaction.
STRING9606.ENSP00000352314.

PTM databases

PhosphoSiteQ9P2G3.

Polymorphism databases

DMDM81175180.

Proteomic databases

MaxQBQ9P2G3.
PaxDbQ9P2G3.
PRIDEQ9P2G3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358095; ENSP00000350808; ENSG00000197705. [Q9P2G3-2]
ENST00000359358; ENSP00000352314; ENSG00000197705. [Q9P2G3-1]
GeneID57565.
KEGGhsa:57565.
UCSCuc002kxm.1. human. [Q9P2G3-1]

Organism-specific databases

CTD57565.
GeneCardsGC18M030252.
HGNCHGNC:29266. KLHL14.
HPAHPA024777.
MIM613772. gene.
neXtProtNX_Q9P2G3.
PharmGKBPA134945930.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284750.
HOGENOMHOG000231583.
HOVERGENHBG102469.
InParanoidQ9P2G3.
KOK10451.
OMAACLPFNK.
OrthoDBEOG79W94K.
PhylomeDBQ9P2G3.
TreeFamTF328485.

Gene expression databases

ArrayExpressQ9P2G3.
BgeeQ9P2G3.
CleanExHS_KLHL14.
GenevestigatorQ9P2G3.

Family and domain databases

Gene3D2.120.10.80. 1 hit.
3.30.710.10. 2 hits.
InterProIPR011705. 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]
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 2 hits.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 2 hits.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57565.
NextBio64074.
PROQ9P2G3.
SOURCESearch...

Entry information

Entry nameKLH14_HUMAN
AccessionPrimary (citable) accession number: Q9P2G3
Secondary accession number(s): A6NNW1, B4DHA0, Q8WU41
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: November 8, 2005
Last modified: July 9, 2014
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM