Beta-klotho - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q86Z14 (KLOTB_HUMAN)

Last modified November 25, 2008. Version 44. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein names

Recommended name:
    Beta-klotho
Alternative name(s):
    BetaKlotho
    Klotho beta-like protein
    BKL

Gene names

Name:

KLB

Organism

Homo sapiens (Human)

Taxonomic identifier

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1044 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 By similarity.
Subunit structure	Interacts with FGFR1 and FGFR4 By similarity.
Subcellular location	Cell membrane; Single-pass type III membrane proteinPotential.
Domain	Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 241, and the second one lacks the essential Glu active site residue at position 889. These domains are therefore predicted to be inactive.
Sequence similarities	Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	cation binding Inferred from electronic annotation. Source: InterPro hydrolase activity, hydrolyzing O-glycosyl compounds Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1044

Beta-klotho

PRO_0000063905

Regions

Topological domain

996

Extracellular Potential

Transmembrane

21

Potential

Topological domain

27

Cytoplasmic Potential

Region

432

Glycosyl hydrolase-1 1

Region

451

Glycosyl hydrolase-1 2

Amino acid modifications

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Glycosylation

1

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

1

R → Q: dbSNP rs17618244.

VAR_034053

Natural variant

1

A → V: dbSNP rs35372803.

VAR_034054

Natural variant

1

Q → K: dbSNP rs4975017.

VAR_034055

Sequences

Sequence

Length

Mass (Da)

Tools

Q86Z14-1 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: 6EA0198250F8928F
Show »

1,044

119,808

        10         20         30         40         50         60 
MKPGCAAGSP GNEWIFFSTD EITTRYRNTM SNGGLQRSVI LSALILLRAV TGFSGDGRAI 

        70         80         90        100        110        120 
WSKNPNFTPV NESQLFLYDT FPKNFFWGIG TGALQVEGSW KKDGKGPSIW DHFIHTHLKN 

       130        140        150        160        170        180 
VSSTNGSSDS YIFLEKDLSA LDFIGVSFYQ FSISWPRLFP DGIVTVANAK GLQYYSTLLD 

       190        200        210        220        230        240 
ALVLRNIEPI VTLYHWDLPL ALQEKYGGWK NDTIIDIFND YATYCFQMFG DRVKYWITIH 

       250        260        270        280        290        300 
NPYLVAWHGY GTGMHAPGEK GNLAAVYTVG HNLIKAHSKV WHNYNTHFRP HQKGWLSITL 

       310        320        330        340        350        360 
GSHWIEPNRS ENTMDIFKCQ QSMVSVLGWF ANPIHGDGDY PEGMRKKLFS VLPIFSEAEK 

       370        380        390        400        410        420 
HEMRGTADFF AFSFGPNNFK PLNTMAKMGQ NVSLNLREAL NWIKLEYNNP RILIAENGWF 

       430        440        450        460        470        480 
TDSRVKTEDT TAIYMMKNFL SQVLQAIRLD EIRVFGYTAW SLLDGFEWQD AYTIRRGLFY 

       490        500        510        520        530        540 
VDFNSKQKER KPKSSAHYYK QIIRENGFSL KESTPDVQGQ FPCDFSWGVT ESVLKPESVA 

       550        560        570        580        590        600 
SSPQFSDPHL YVWNATGNRL LHRVEGVRLK TRPAQCTDFV NIKKQLEMLA RMKVTHYRFA 

       610        620        630        640        650        660 
LDWASVLPTG NLSAVNRQAL RYYRCVVSEG LKLGISAMVT LYYPTHAHLG LPEPLLHADG 

       670        680        690        700        710        720 
WLNPSTAEAF QAYAGLCFQE LGDLVKLWIT INEPNRLSDI YNRSGNDTYG AAHNLLVAHA 

       730        740        750        760        770        780 
LAWRLYDRQF RPSQRGAVSL SLHADWAEPA NPYADSHWRA AERFLQFEIA WFAEPLFKTG 

       790        800        810        820        830        840 
DYPAAMREYI ASKHRRGLSS SALPRLTEAE RRLLKGTVDF CALNHFTTRF VMHEQLAGSR 

       850        860        870        880        890        900 
YDSDRDIQFL QDITRLSSPT RLAVIPWGVR KLLRWVRRNY GDMDIYITAS GIDDQALEDD 

       910        920        930        940        950        960 
RLRKYYLGKY LQEVLKAYLI DKVRIKGYYA FKLAEEKSKP RFGFFTSDFK AKSSIQFYNK 

       970        980        990       1000       1010       1020 
VISSRGFPFE NSSSRCSQTQ ENTECTVCLF LVQKKPLIFL GCCFFSTLVL LLSIAIFQRQ 

      1030       1040 
KRRKFWKAKN LQHIPLKKGK RVVS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Klotho beta like protein." Hayashi A., Saito T. Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
	AB079373 mRNA. Translation: BAC56857.1. BC104871 mRNA. Translation: AAI04872.1. BC113653 mRNA. Translation: AAI13654.1.
RefSeq	NP_783864.1.
UniGene	Hs.90756
3D structure databases
HSSP	HSSP built from PDB template 1OIF based on UniProtKB Q08638.
ModBase	Search...
PTM databases
PhosphoSite	Q86Z14.
Genome annotation databases
Ensembl	ENSG00000134962. Homo sapiens. [Contig view]
GeneID	152831.
KEGG	hsa:152831.
Organism-specific databases
HGNC	HGNC:15527. KLB.
MIM	611135. gene.
PharmGKB	PA142671586.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q86Z14.
HOVERGEN	Q86Z14.
Gene expression databases
ArrayExpress	Q86Z14.
CleanEx	HS_KLB.
GermOnline	ENSG00000134962. Homo sapiens.
Family and domain databases
InterPro	IPR001360. Glyco_hydro_1. IPR013781. Glyco_hydro_sub_cat. [Graphical view]
Gene3D	G3DSA:3.20.20.80. Glyco_hydro_cat. 2 hits.
PANTHER	PTHR10353. Glyco_hydro_1. 1 hit.
Pfam	PF00232. Glyco_hydro_1. 2 hits. [Graphical view]
PRINTS	PR00131. GLHYDRLASE1.
ProDom	PD000650. Glyco_hydro_euk. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS00572. GLYCOSYL_HYDROL_F1_1. False negative. PS00653. GLYCOSYL_HYDROL_F1_2. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	87043.
SOURCE	Search...

Entry information

Entry name

KLOTB_HUMAN

Accession

Primary (citable) accession number: Q86Z14
Secondary accession number(s): Q2M3K8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2005
Last sequence update:	June 1, 2003
Last modified:	November 25, 2008
This is version 44 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Relevant documents

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents