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O60663

- LMX1B_HUMAN

UniProt

O60663 - LMX1B_HUMAN

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Protein
LIM homeobox transcription factor 1-beta
Gene
LMX1B
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi219 – 27860Homeobox
Add
BLAST

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. cell death Source: Ensembl
  2. cell proliferation Source: Ensembl
  3. central nervous system neuron development Source: Ensembl
  4. cerebellum morphogenesis Source: Ensembl
  5. collagen fibril organization Source: Ensembl
  6. dopaminergic neuron differentiation Source: Ensembl
  7. dorsal/ventral pattern formation Source: UniProtKB
  8. in utero embryonic development Source: UniProtKB
  9. limb morphogenesis Source: Ensembl
  10. midbrain development Source: Ensembl
  11. multicellular organismal development Source: UniProtKB
  12. neuron differentiation Source: UniProtKB
  13. neuron migration Source: Ensembl
  14. organ growth Source: Ensembl
  15. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  16. regulation of transcription, DNA-templated Source: UniProtKB
  17. trabecular meshwork development Source: Ensembl
  18. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
LIM homeobox transcription factor 1-beta
Alternative name(s):
LIM/homeobox protein 1.2
Short name:
LMX-1.2
LIM/homeobox protein LMX1B
Gene namesi
Name:LMX1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:6654. LMX1B.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause abnormal skeletal patterning and renal dysplasia.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591C → R in NPS. 1 Publication
VAR_015201
Natural varianti59 – 591C → S in NPS. 1 Publication
VAR_015202
Natural varianti77 – 771H → N in NPS. 1 Publication
VAR_015190
Natural varianti77 – 771H → Q in NPS. 1 Publication
VAR_015203
Natural varianti77 – 771H → Y in NPS. 1 Publication
VAR_015204
Natural varianti80 – 801C → R in NPS. 1 Publication
VAR_015205
Natural varianti81 – 811L → W in NPS. 1 Publication
VAR_015191
Natural varianti83 – 831C → F in NPS. 1 Publication
VAR_015192
Natural varianti83 – 831C → G in NPS. 1 Publication
VAR_015206
Natural varianti83 – 831C → W in NPS. 1 Publication
VAR_015193
Natural varianti83 – 831C → Y in NPS. 1 Publication
VAR_015207
Natural varianti86 – 861C → R in NPS. 1 Publication
VAR_015208
Natural varianti103 – 1031C → W in NPS. 1 Publication
VAR_015194
Natural varianti106 – 1061D → G in NPS. 1 Publication
VAR_015209
Natural varianti118 – 1181C → F in NPS. 1 Publication
VAR_004198
Natural varianti118 – 1181C → Y in NPS. 2 Publications
VAR_015195
Natural varianti137 – 1371H → Y in NPS. 1 Publication
VAR_015196
Natural varianti140 – 1401C → Y in NPS. 1 Publication
VAR_015197
Natural varianti143 – 1431C → S in NPS. 1 Publication
VAR_015210
Natural varianti146 – 1461C → F in NPS. 1 Publication
VAR_015211
Natural varianti146 – 1461C → Y in NPS. 1 Publication
VAR_015212
Natural varianti165 – 1651C → W in NPS. 1 Publication
VAR_004199
Natural varianti223 – 2231R → Q in NPS. 2 Publications
Corresponds to variant rs28939692 [ dbSNP | Ensembl ].
VAR_004200
Natural varianti236 – 2361A → P in NPS. 2 Publications
VAR_004201
Natural varianti241 – 2411S → P in NPS. 1 Publication
VAR_004202
Natural varianti249 – 2491R → P in NPS. 1 Publication
VAR_004203
Natural varianti252 – 2521L → P in NPS. 1 Publication
VAR_015213
Natural varianti253 – 2531A → V in NPS. 1 Publication
VAR_004204
Natural varianti266 – 2661W → C in NPS. 1 Publication
VAR_015198
Natural varianti269 – 2691N → K in NPS. 3 Publications
VAR_004205

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi161200. phenotype.
Orphaneti2614. Nail-patella syndrome.
PharmGKBiPA30417.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 402402LIM homeobox transcription factor 1-beta
PRO_0000075828Add
BLAST

Proteomic databases

PaxDbiO60663.
PRIDEiO60663.

PTM databases

PhosphoSiteiO60663.

Expressioni

Tissue specificityi

Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.

Gene expression databases

ArrayExpressiO60663.
BgeeiO60663.
CleanExiHS_LMX1B.
GenevestigatoriO60663.

Interactioni

Protein-protein interaction databases

BioGridi110195. 2 interactions.
IntActiO60663. 2 interactions.
STRINGi9606.ENSP00000347684.

Structurei

3D structure databases

ProteinModelPortaliO60663.
SMRiO60663. Positions 4-173, 214-276.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini56 – 10651LIM zinc-binding 1
Add
BLAST
Domaini115 – 16854LIM zinc-binding 2
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi282 – 2887Poly-Gln

Sequence similaritiesi

Keywords - Domaini

Homeobox, LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG243427.
HOGENOMiHOG000231629.
HOVERGENiHBG052335.
InParanoidiO60663.
KOiK09371.
OMAiNRMEGMM.
OrthoDBiEOG7BZVTB.
TreeFamiTF315442.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
2.10.110.10. 2 hits.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00412. LIM. 2 hits.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
SM00132. LIM. 2 hits.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60663-1) [UniParc]FASTAAdd to Basket

Also known as: Long

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

MDIATGPESL ERCFPRGQTD CAKMLDGIKM EEHALRPGPA TLGVLLGSDC    50
PHPAVCEGCQ RPISDRFLMR VNESSWHEEC LQCAACQQAL TTSCYFRDRK 100
LYCKQDYQQL FAAKCSGCME KIAPTEFVMR ALECVYHLGC FCCCVCERQL 150
RKGDEFVLKE GQLLCKGDYE KEKDLLSSVS PDESDSVKSE DEDGDMKPAK 200
GQGSQSKGSG DDGKDPRRPK RPRTILTTQQ RRAFKASFEV SSKPCRKVRE 250
TLAAETGLSV RVVQVWFQNQ RAKMKKLARR HQQQQEQQNS QRLGQEVLSS 300
RMEGMMASYT PLAPPQQQIV AMEQSPYGSS DPFQQGLTPP QMPGDHMNPY 350
GNDSIFHDID SDTSLTSLSD CFLGSSDVGS LQARVGNPID RLYSMQSSYF 400
AS 402
Length:402
Mass (Da):44,917
Last modified:May 1, 2013 - v3
Checksum:iE59FC36C39C7C9A3
GO
Isoform 2 (identifier: O60663-2) [UniParc]FASTAAdd to Basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     345-351: Missing.

Show »
Length:395
Mass (Da):44,102
Checksum:i9FFBF8A68E7AC676
GO
Isoform 3 (identifier: O60663-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     293-293: L → LGQGEPGPGQGL
     345-351: Missing.

Show »
Length:406
Mass (Da):45,080
Checksum:i5FF15E73B7FD552E
GO

Sequence cautioni

The sequence AAC27294.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAC39738.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAH69601.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI12121.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI13492.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAH70295.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAI40918.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence EAW87642.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591C → R in NPS. 1 Publication
VAR_015201
Natural varianti59 – 591C → S in NPS. 1 Publication
VAR_015202
Natural varianti75 – 751S → F.
Corresponds to variant rs2235058 [ dbSNP | Ensembl ].
VAR_047755
Natural varianti77 – 771H → N in NPS. 1 Publication
VAR_015190
Natural varianti77 – 771H → Q in NPS. 1 Publication
VAR_015203
Natural varianti77 – 771H → Y in NPS. 1 Publication
VAR_015204
Natural varianti80 – 801C → R in NPS. 1 Publication
VAR_015205
Natural varianti81 – 811L → W in NPS. 1 Publication
VAR_015191
Natural varianti83 – 831C → F in NPS. 1 Publication
VAR_015192
Natural varianti83 – 831C → G in NPS. 1 Publication
VAR_015206
Natural varianti83 – 831C → W in NPS. 1 Publication
VAR_015193
Natural varianti83 – 831C → Y in NPS. 1 Publication
VAR_015207
Natural varianti86 – 861C → R in NPS. 1 Publication
VAR_015208
Natural varianti103 – 1031C → W in NPS. 1 Publication
VAR_015194
Natural varianti106 – 1061D → G in NPS. 1 Publication
VAR_015209
Natural varianti118 – 1181C → F in NPS. 1 Publication
VAR_004198
Natural varianti118 – 1181C → Y in NPS. 2 Publications
VAR_015195
Natural varianti137 – 1371H → Y in NPS. 1 Publication
VAR_015196
Natural varianti140 – 1401C → Y in NPS. 1 Publication
VAR_015197
Natural varianti143 – 1431C → S in NPS. 1 Publication
VAR_015210
Natural varianti146 – 1461C → F in NPS. 1 Publication
VAR_015211
Natural varianti146 – 1461C → Y in NPS. 1 Publication
VAR_015212
Natural varianti165 – 1651C → W in NPS. 1 Publication
VAR_004199
Natural varianti223 – 2231R → Q in NPS. 2 Publications
Corresponds to variant rs28939692 [ dbSNP | Ensembl ].
VAR_004200
Natural varianti236 – 2361A → P in NPS. 2 Publications
VAR_004201
Natural varianti241 – 2411S → P in NPS. 1 Publication
VAR_004202
Natural varianti249 – 2491R → P in NPS. 1 Publication
VAR_004203
Natural varianti252 – 2521L → P in NPS. 1 Publication
VAR_015213
Natural varianti253 – 2531A → V in NPS. 1 Publication
VAR_004204
Natural varianti266 – 2661W → C in NPS. 1 Publication
VAR_015198
Natural varianti269 – 2691N → K in NPS. 3 Publications
VAR_004205

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei293 – 2931L → LGQGEPGPGQGL in isoform 3.
VSP_046472
Alternative sequencei345 – 3517Missing in isoform 2 and isoform 3.
VSP_003113

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF059575
, AF059572, AF059573, AF059574 Genomic DNA. Translation: AAC27294.1. Different initiation.
AL161908, AL161731 Genomic DNA. Translation: CAH70294.1.
AL161908, AL161731 Genomic DNA. Translation: CAH70295.1. Different initiation.
AL161731, AL161908 Genomic DNA. Translation: CAI40917.1.
AL161731, AL161908 Genomic DNA. Translation: CAI40918.1. Different initiation.
CH471090 Genomic DNA. Translation: EAW87642.1. Different initiation.
BC069601 mRNA. Translation: AAH69601.1. Different initiation.
BC112120 mRNA. Translation: AAI12121.1. Different initiation.
BC113491 mRNA. Translation: AAI13492.1. Different initiation.
AF057135 mRNA. Translation: AAC39738.1. Different initiation.
CCDSiCCDS55342.1. [O60663-1]
CCDS55343.1. [O60663-3]
CCDS6866.2. [O60663-2]
RefSeqiNP_001167618.1. NM_001174147.1. [O60663-1]
NP_002307.2. NM_002316.3. [O60663-2]
UniGeneiHs.129133.

Genome annotation databases

EnsembliENST00000355497; ENSP00000347684; ENSG00000136944. [O60663-3]
ENST00000373474; ENSP00000362573; ENSG00000136944. [O60663-1]
ENST00000425646; ENSP00000390923; ENSG00000136944.
ENST00000526117; ENSP00000436930; ENSG00000136944. [O60663-2]
GeneIDi4010.
KEGGihsa:4010.
UCSCiuc004bqj.3. human. [O60663-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF059575
, AF059572 , AF059573 , AF059574 Genomic DNA. Translation: AAC27294.1 . Different initiation.
AL161908 , AL161731 Genomic DNA. Translation: CAH70294.1 .
AL161908 , AL161731 Genomic DNA. Translation: CAH70295.1 . Different initiation.
AL161731 , AL161908 Genomic DNA. Translation: CAI40917.1 .
AL161731 , AL161908 Genomic DNA. Translation: CAI40918.1 . Different initiation.
CH471090 Genomic DNA. Translation: EAW87642.1 . Different initiation.
BC069601 mRNA. Translation: AAH69601.1 . Different initiation.
BC112120 mRNA. Translation: AAI12121.1 . Different initiation.
BC113491 mRNA. Translation: AAI13492.1 . Different initiation.
AF057135 mRNA. Translation: AAC39738.1 . Different initiation.
CCDSi CCDS55342.1. [O60663-1 ]
CCDS55343.1. [O60663-3 ]
CCDS6866.2. [O60663-2 ]
RefSeqi NP_001167618.1. NM_001174147.1. [O60663-1 ]
NP_002307.2. NM_002316.3. [O60663-2 ]
UniGenei Hs.129133.

3D structure databases

ProteinModelPortali O60663.
SMRi O60663. Positions 4-173, 214-276.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110195. 2 interactions.
IntActi O60663. 2 interactions.
STRINGi 9606.ENSP00000347684.

PTM databases

PhosphoSitei O60663.

Proteomic databases

PaxDbi O60663.
PRIDEi O60663.

Protocols and materials databases

DNASUi 4010.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355497 ; ENSP00000347684 ; ENSG00000136944 . [O60663-3 ]
ENST00000373474 ; ENSP00000362573 ; ENSG00000136944 . [O60663-1 ]
ENST00000425646 ; ENSP00000390923 ; ENSG00000136944 .
ENST00000526117 ; ENSP00000436930 ; ENSG00000136944 . [O60663-2 ]
GeneIDi 4010.
KEGGi hsa:4010.
UCSCi uc004bqj.3. human. [O60663-1 ]

Organism-specific databases

CTDi 4010.
GeneCardsi GC09P129376.
GeneReviewsi LMX1B.
HGNCi HGNC:6654. LMX1B.
MIMi 161200. phenotype.
602575. gene.
neXtProti NX_O60663.
Orphaneti 2614. Nail-patella syndrome.
PharmGKBi PA30417.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243427.
HOGENOMi HOG000231629.
HOVERGENi HBG052335.
InParanoidi O60663.
KOi K09371.
OMAi NRMEGMM.
OrthoDBi EOG7BZVTB.
TreeFami TF315442.

Miscellaneous databases

GeneWikii LMX1B.
GenomeRNAii 4010.
NextBioi 15732.
PROi O60663.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60663.
Bgeei O60663.
CleanExi HS_LMX1B.
Genevestigatori O60663.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
2.10.110.10. 2 hits.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001781. Znf_LIM.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00412. LIM. 2 hits.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
SM00132. LIM. 2 hits.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome."
    Vollrath D., Jaramillo-Babb V.L., Clough M.V., McIntosh I., Scott K.M., Lichter P.R., Richards J.E.
    Hum. Mol. Genet. 7:1091-1098(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT NPS PHE-118.
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    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] OF 8-402 (ISOFORM 2).
  5. "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome."
    Dreyer S.D., Zhou G., Baldini A., Winterpacht A., Zabel B., Cole W., Johnson R.L., Lee B.
    Nat. Genet. 19:47-50(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-402 (ISOFORM 2), VARIANT NPS LYS-269.
  6. Cited for: VARIANTS NPS TRP-165; GLN-223; PRO-236; PRO-241; PRO-249; VAL-253 AND LYS-269.
  7. "Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients."
    Clough M.V., Hamlington J.D., McIntosh I.
    Hum. Mutat. 14:459-465(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPS ARG-59; SER-59; GLN-77; TYR-77; ARG-80; GLY-83; TYR-83; ARG-86; GLY-106; TYR-118; SER-143; PHE-146; TYR-146 AND PRO-252.
  8. "Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients."
    Hamlington J.D., Jones C., McIntosh I.
    Hum. Mutat. 18:458-458(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPS ASN-77; TRP-81; PHE-83; TRP-83; TRP-103; TYR-118; TYR-137; TYR-140; GLN-223; PRO-236; CYS-266 AND LYS-269.

Entry informationi

Entry nameiLMX1B_HUMAN
AccessioniPrimary (citable) accession number: O60663
Secondary accession number(s): F8W7W6
, O75463, Q5JU95, Q6ISC9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: May 1, 2013
Last modified: July 9, 2014
This is version 142 of the entry and version 3 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 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi