Q8TE12 (LMX1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
LIM homeobox transcription factor 1-alpha

Alternative name(s):
LIM/homeobox protein 1.1
Short name=LMX-1.1
LIM/homeobox protein LMX1A

Gene names

Name:

LMX1A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	382 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae By similarity.
Subcellular location	Nucleus By similarity.
Tissue specificity	Isoform 1 is expressed in many tissues. Not found in heart, liver, spleen and testis. Relatively highly expressed in fetal brain. Isoform LMX1A-4B is expressed in testis. Ref.1
Sequence similarities	Contains 1 homeobox DNA-binding domain. Contains 2 LIM zinc-binding domains.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Homeobox LIM domain Repeat
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon guidance Inferred from electronic annotation. Source: Compara central nervous system neuron differentiation Inferred from electronic annotation. Source: Compara cerebellum development Inferred from electronic annotation. Source: Compara dentate gyrus development Inferred from electronic annotation. Source: Compara dopaminergic neuron differentiation Inferred from electronic annotation. Source: Compara midbrain development Inferred from electronic annotation. Source: Compara negative regulation of neuron differentiation Inferred from electronic annotation. Source: Compara regulation of cell growth Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TE12-1)

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 LMX1A-4AB (identifier: Q8TE12-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-249: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 382	382	LIM homeobox transcription factor 1-alpha		PRO_0000075825
Regions
	Domain	33 – 92	60	LIM zinc-binding 1
	Domain	92 – 154	63	LIM zinc-binding 2
	DNA binding	195 – 254	60	Homeobox
	Compositional bias	240 – 274	35	Gln-rich
	Compositional bias	257 – 265	9	Poly-Gln
Natural variations
	Alternative sequence	1 – 249	249	Missing in isoform LMX1A-4AB.		VSP_003112

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 55424762757FF5FD	FASTA	382	42,747
	10 20 30 40 50 60 MLDGLKMEEN FQSAIDTSAS FSSLLGRAVS PKSVCEGCQR VILDRFLLRL NDSFWHEQCV 70 80 90 100 110 120 QCASCKEPLE TTCFYRDKKL YCKYDYEKLF AVKCGGCFEA IAPNEFVMRA QKSVYHLSCF 130 140 150 160 170 180 CCCVCERQLQ KGDEFVLKEG QLLCKGDYEK ERELLSLVSP AASDSGKSDD EESLCKSAHG 190 200 210 220 230 240 AGKGTAEEGK DHKRPKRPRT ILTTQQRRAF KASFEVSSKP CRKVRETLAA ETGLSVRVVQ 250 260 270 280 290 300 VWFQNQRAKM KKLARRQQQQ QQDQQNTQRL SSAQTNGGGS AGMEGIMNPY TALPTPQQLL 310 320 330 340 350 360 AIEQSVYSSD PFRQGLTPPQ MPGDHMHPYG AEPLFHDLDS DDTSLSNLGD CFLATSEAGP 370 380 LQSRVGNPID HLYSMQNSYF TS
	Isoform LMX1A-4AB [UniParc]. Checksum: D58B4EF35A69D5F1	FASTA	133	14,615
	10 20 30 40 50 60 MKKLARRQQQ QQQDQQNTQR LSSAQTNGGG SAGMEGIMNP YTALPTPQQL LAIEQSVYSS 70 80 90 100 110 120 DPFRQGLTPP QMPGDHMHPY GAEPLFHDLD SDDTSLSNLG DCFLATSEAG PLQSRVGNPI 130 DHLYSMQNSY FTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians." Thameem F., Wolford J.K., Wang J., German M.S., Bogardus C., Prochazka M. Gene 290:217-225(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[2]	"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] (ISOFORM 1).
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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. , 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].
[5]	"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 LMX1A-4AB).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY078398 , AY078391, AY078392, AY078393, AY078394, AY078395, AY078396, AY078397 Genomic DNA. Translation: AAL82892.1. AY078398, AY078396, AY078397 Genomic DNA. Translation: AAL82893.1. AK127724 mRNA. Translation: BAG54558.1. AL390730, AL160058 Genomic DNA. Translation: CAH73258.1. AL160058, AL390730 Genomic DNA. Translation: CAH71967.1. CH471067 Genomic DNA. Translation: EAW90744.1. BC119743 mRNA. Translation: AAI19744.1. BC119744 mRNA. Translation: AAI19745.1.
IPI	IPI00152586. IPI00328299.
RefSeq	NP_001167540.1. NM_001174069.1. NP_796372.1. NM_177398.3.
UniGene	Hs.667312.
3D structure databases
ProteinModelPortal	Q8TE12.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000294816.
PTM databases
PhosphoSite	Q8TE12.
Polymorphism databases
DMDM	27923801.
Proteomic databases
PaxDb	Q8TE12.
PRIDE	Q8TE12.
Protocols and materials databases
DNASU	4009.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000294816; ENSP00000294816; ENSG00000162761. ENST00000342310; ENSP00000340226; ENSG00000162761. ENST00000367893; ENSP00000356868; ENSG00000162761.
GeneID	4009.
KEGG	hsa:4009.
UCSC	uc001gcz.2. human. uc021pdy.1. human.
Organism-specific databases
CTD	4009.
GeneCards	GC01M165171.
HGNC	HGNC:6653. LMX1A.
HPA	HPA028051. HPA030088.
MIM	600298. gene.
neXtProt	NX_Q8TE12.
PharmGKB	PA30416.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG243427.
HOGENOM	HOG000231629.
HOVERGEN	HBG052335.
InParanoid	Q8TE12.
KO	K09371.
OMA	GNAGMEG.
OrthoDB	EOG4QFWDN.
PhylomeDB	Q8TE12.
Gene expression databases
ArrayExpress	Q8TE12.
Bgee	Q8TE12.
CleanEx	HS_LMX1A.
Genevestigator	Q8TE12.
GermOnline	ENSG00000162761. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit. 2.10.110.10. 2 hits.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR001781. Znf_LIM. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF00412. LIM. 2 hits. [Graphical view]
SMART	SM00389. HOX. 1 hit. SM00132. LIM. 2 hits. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS00478. LIM_DOMAIN_1. 2 hits. PS50023. LIM_DOMAIN_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4009.
NextBio	15724.
SOURCE	Search...

Entry information

Entry name

LMX1A_HUMAN

Accession

Primary (citable) accession number: Q8TE12
Secondary accession number(s): B3KXP6 , Q0VDB5, Q5VWG4, Q8TE11

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 27, 2003
Last sequence update:	June 1, 2002
Last modified:	May 1, 2013
This is version 100 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.