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O60663

- LMX1B_HUMAN

UniProt

O60663 - LMX1B_HUMAN

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
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 3 (01 May 2013)
      Previous versions | rss
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    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 – 27860HomeoboxPROSITE-ProRule annotationAdd
    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

    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 PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause abnormal skeletal patterning and renal dysplasia.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-betaPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    Compositional bias

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

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
    Contains 2 LIM zinc-binding domains.PROSITE-ProRule annotation

    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. CuratedVSP_046472
    Alternative sequencei345 – 3517Missing in isoform 2 and isoform 3. 2 PublicationsVSP_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]
    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 ]
    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

    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: October 1, 2014
    This is version 143 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