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Q9P2G3

- KLH14_HUMAN

UniProt

Q9P2G3 - KLH14_HUMAN

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Protein
Kelch-like protein 14
Gene
KLHL14, KIAA1384
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 14
Alternative name(s):
Protein interactor of Torsin-1A
Short name:
Printor
Short name:
Protein interactor of torsinA
Gene namesi
Name:KLHL14
Synonyms:KIAA1384
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:29266. KLHL14.

Subcellular locationi

Cytoplasmcytosol. Endoplasmic reticulum membrane
Note: Colocalizes with TOR1A at the endoplasmic reticulum level.1 Publication

GO - Cellular componenti

  1. cytosol Source: UniProtKB-SubCell
  2. endoplasmic reticulum Source: MGI
  3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  4. neuron projection Source: Ensembl
  5. neuronal cell body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134945930.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 628628Kelch-like protein 14
PRO_0000119117Add
BLAST

Proteomic databases

MaxQBiQ9P2G3.
PaxDbiQ9P2G3.
PRIDEiQ9P2G3.

PTM databases

PhosphoSiteiQ9P2G3.

Expressioni

Gene expression databases

ArrayExpressiQ9P2G3.
BgeeiQ9P2G3.
CleanExiHS_KLHL14.
GenevestigatoriQ9P2G3.

Organism-specific databases

HPAiHPA024777.

Interactioni

Subunit structurei

Interacts with TOR1A, preferentially with the ATP-free form.1 Publication

Protein-protein interaction databases

BioGridi121619. 2 interactions.
IntActiQ9P2G3. 1 interaction.
STRINGi9606.ENSP00000352314.

Structurei

3D structure databases

ProteinModelPortaliQ9P2G3.
SMRiQ9P2G3. Positions 14-303, 322-600.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 151119BTB
Add
BLAST
Domaini210 – 27970BACK
Add
BLAST
Repeati323 – 37250Kelch 1
Add
BLAST
Repeati373 – 42452Kelch 2
Add
BLAST
Repeati425 – 47147Kelch 3
Add
BLAST
Repeati473 – 51846Kelch 4
Add
BLAST
Repeati520 – 57051Kelch 5
Add
BLAST
Repeati572 – 62049Kelch 6
Add
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.
Contains 6 Kelch repeats.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG284750.
HOGENOMiHOG000231583.
HOVERGENiHBG102469.
InParanoidiQ9P2G3.
KOiK10451.
OMAiACLPFNK.
OrthoDBiEOG79W94K.
PhylomeDBiQ9P2G3.
TreeFamiTF328485.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
3.30.710.10. 2 hits.
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. 2 hits.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 2 hits.
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: Q9P2G3-1) [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

MSRSGDRTST FDPSHSDNLL HGLNLLWRKQ LFCDVTLTAQ GQQFHCHKAV    50
LASCSQYFRS LFSSHPPLGG GVGGQDGLGA PKDQQQPPQQ QPSQQQQPPP 100
QEEPGTPSSS PDDKLLTSPR AINNLVLQGC SSIGLRLVLE YLYTANVTLS 150
LDTVEEVLSV SKILHIPQVT KLCVQFLNDQ ISVQNYKQVC KIAALHGLEE 200
TKKLANKYLV EDVLLLNFEE MRALLDSLPP PVESELALFQ MSVLWLEHDR 250
ETRMQYAPDL MKRLRFALIP APELVERVQS VDFMRTDPVC QKLLLDAMNY 300
HLMPFRQHCR QSLASRIRSN KKMLLLVGGL PPGPDRLPSN LVQYYDDEKK 350
TWKILTIMPY NSAHHCVVEV ENFLFVLGGE DQWNPNGKHS TNFVSRYDPR 400
FNSWIQLPPM QERRASFYAC RLDKHLYVIG GRNETGYLSS VECYNLETNE 450
WRYVSSLPQP LAAHAGAVHN GKIYISGGVH NGEYVPWLYC YDPVMDVWAR 500
KQDMNTKRAI HTLAVMNDRL YAIGGNHLKG FSHLDVMLVE CYDPKGDQWN 550
ILQTPILEGR SGPGCAVLDD SIYLVGGYSW SMGAYKSSTI CYCPEKGTWT 600
ELEGDVAEPL AGPACVTVIL PSCVPYNK 628
Length:628
Mass (Da):70,714
Last modified:November 8, 2005 - v2
Checksum:iCF642DAA16F8A718
GO
Isoform 2 (identifier: Q9P2G3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     358-388: MPYNSAHHCVVEVENFLFVLGGEDQWNPNGK → TGPHPISGKQESASSPEFRRRKTREFSNNTM
     389-628: Missing.

Note: No experimental confirmation available.

Show »
Length:388
Mass (Da):43,792
Checksum:i60A7411D7360FDA7
GO

Sequence cautioni

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 sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei358 – 38831MPYNS…NPNGK → TGPHPISGKQESASSPEFRR RKTREFSNNTM in isoform 2.
VSP_041342Add
BLAST
Alternative sequencei389 – 628240Missing in isoform 2.
VSP_041343Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS32813.1. [Q9P2G3-1]
RefSeqiNP_065856.1. NM_020805.1. [Q9P2G3-1]
UniGeneiHs.446164.

Genome annotation databases

EnsembliENST00000358095; ENSP00000350808; ENSG00000197705. [Q9P2G3-2]
ENST00000359358; ENSP00000352314; ENSG00000197705. [Q9P2G3-1]
GeneIDi57565.
KEGGihsa:57565.
UCSCiuc002kxm.1. human. [Q9P2G3-1]

Polymorphism databases

DMDMi81175180.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS32813.1. [Q9P2G3-1 ]
RefSeqi NP_065856.1. NM_020805.1. [Q9P2G3-1 ]
UniGenei Hs.446164.

3D structure databases

ProteinModelPortali Q9P2G3.
SMRi Q9P2G3. Positions 14-303, 322-600.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121619. 2 interactions.
IntActi Q9P2G3. 1 interaction.
STRINGi 9606.ENSP00000352314.

PTM databases

PhosphoSitei Q9P2G3.

Polymorphism databases

DMDMi 81175180.

Proteomic databases

MaxQBi Q9P2G3.
PaxDbi Q9P2G3.
PRIDEi Q9P2G3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000358095 ; ENSP00000350808 ; ENSG00000197705 . [Q9P2G3-2 ]
ENST00000359358 ; ENSP00000352314 ; ENSG00000197705 . [Q9P2G3-1 ]
GeneIDi 57565.
KEGGi hsa:57565.
UCSCi uc002kxm.1. human. [Q9P2G3-1 ]

Organism-specific databases

CTDi 57565.
GeneCardsi GC18M030252.
HGNCi HGNC:29266. KLHL14.
HPAi HPA024777.
MIMi 613772. gene.
neXtProti NX_Q9P2G3.
PharmGKBi PA134945930.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284750.
HOGENOMi HOG000231583.
HOVERGENi HBG102469.
InParanoidi Q9P2G3.
KOi K10451.
OMAi ACLPFNK.
OrthoDBi EOG79W94K.
PhylomeDBi Q9P2G3.
TreeFami TF328485.

Miscellaneous databases

GenomeRNAii 57565.
NextBioi 64074.
PROi Q9P2G3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9P2G3.
Bgeei Q9P2G3.
CleanExi HS_KLHL14.
Genevestigatori Q9P2G3.

Family and domain databases

Gene3Di 2.120.10.80. 1 hit.
3.30.710.10. 2 hits.
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. 2 hits.
PF01344. Kelch_1. 4 hits.
[Graphical view ]
PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 2 hits.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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.
    , 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.

Entry informationi

Entry nameiKLH14_HUMAN
AccessioniPrimary (citable) accession number: Q9P2G3
Secondary accession number(s): A6NNW1, B4DHA0, Q8WU41
Entry historyi
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 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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