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LBX1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

LBX1

Identifiers

Aliases

LBX1, HPX-6, HPX6, LBX1H, homeobox, ladybird homeobox 1, CCHS3

External IDs

OMIM:604255;MGI:104867;HomoloGene:4784;GeneCards:LBX1;OMA:LBX1 - orthologs

Gene location (Human)

Chr.	Chromosome 10 (human)^[1]

Band	10q24.32	Start	101,226,994bp^[1]
Band	10q24.32	End	101,229,463bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19\|19 C3	Start	45,221,123bp^[2]
Band	19\|19 C3	End	45,224,251bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gastrocnemius muscle

muscle of thigh

testicle

skeletal muscle tissue

right hemisphere of cerebellum

C1 segment

right lung

frontal lobe

Cortex of frontal lobe

dorsolateral prefrontal cortex

Top expressed in

triceps brachii muscle

muscle of thigh

lumbar subsegment of spinal cord

ankle

vastus lateralis muscle

gastrocnemius muscle

tibialis anterior muscle

skeletal muscle tissue

zygote

soleus muscle

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	DNA-binding transcription factor activity sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component	nucleus transcription regulator complex
Biological process	multicellular organism development heart looping anatomical structure morphogenesis cell differentiation muscle organ development neuron fate commitment spinal cord motor neuron differentiation regulation of transcription, DNA-templated negative regulation of neuron differentiation neuron fate determination transcription, DNA-templated nervous system development negative regulation of cell population proliferation
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


10660


16814

Ensembl


ENSG00000138136


ENSMUSG00000025216

UniProt


P52954


P52955

RefSeq (mRNA)


NM_006562


NM_010691

RefSeq (protein)


NP_006553


NP_034821

Location (UCSC)

Chr 10: 101.23 – 101.23 Mb

Chr 19: 45.22 – 45.22 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Transcription factor LBX1 is aprotein that in humans is encoded by theLBX1gene.^[5]^[6]

This gene and the orthologous mouse gene were found by theirhomology to theDrosophila lady bird early and latehomeobox genes.

In the mouse, this gene is a key regulator of muscle precursorcell migration and is required for the acquisition of dorsal identities of forelimb muscles.^[6]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000138136 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000025216 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Jagla K, Dolle P, Mattei MG, Jagla T, Schuhbaur B, Dretzen G, Bellard F, Bellard M (Jul 1996)."Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene family related to the Drosophila lady bird genes".Mech Dev.53 (3):345–56.doi:10.1016/0925-4773(95)00450-5.PMID 8645601.S2CID 19021832.
^^a ^b"Entrez Gene: LBX1 ladybird homeobox 1".

Gerhard DS, Wagner L, Feingold EA, et al. (2004)."The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)".Genome Res.14 (10B):2121–7.doi:10.1101/gr.2596504.PMC 528928.PMID 15489334.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004)."The DNA sequence and comparative analysis of human chromosome 10".Nature.429 (6990):375–81.Bibcode:2004Natur.429..375D.doi:10.1038/nature02462.PMID 15164054.
de Mollerat XJ, Gurrieri F, Morgan CT, et al. (2004)."A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24".Hum. Mol. Genet.12 (16):1959–71.doi:10.1093/hmg/ddg212.PMID 12913067.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99 (26):16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC 139241.PMID 12477932.
Kozmik Z, Holland LZ, Schubert M, et al. (2001). "Characterization of Amphioxus AmphiVent, an evolutionarily conserved marker for chordate ventral mesoderm".Genesis.29 (4):172–9.doi:10.1002/gene.1021.PMID 11309850.S2CID 7730828.
Moretti P, Simmons P, Thomas P, et al. (1994). "Identification of homeobox genes expressed in human haemopoietic progenitor cells".Gene.144 (2):213–9.doi:10.1016/0378-1119(94)90380-8.PMID 7518789.

Transcription factors andintracellular receptors

(1) Basic domains

(1.1) Basicleucine zipper (bZIP)

Activating transcription factor
- AATF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
AP-1
- c-Fos
- FOSB
- FOSL1
- FOSL2
- JDP2
- c-Jun
- JUNB
- JunD
BACH
- 1
- 2
BATF
BLZF1
C/EBP
- α
- β
- γ
- δ
- ε
- ζ
CREB
- 1
- 3
- L1
CREM
DBP
DDIT3
GABPA
GCN4
HLF
MAF
- B
- sMaf
  - F
  - G
  - K
NFE
- 2
- L1
- L2
- L3
NFIL3
NRL
NRF
- 1
- 2
- 3
XBP1

(1.2) Basic helix-loop-helix (bHLH)

Group A	AS-C ASCL1 ASCL2 ATOH1 HAND 1 2 MESP2 Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 NeuroD 1 2 Neurogenins 1 2 3 OLIG 1 2 Paraxis TCF15 Scleraxis SLC LYL1 TAL 1 2 Twist
Group B	FIGLA Myc c-Myc l-Myc n-Myc MXD4 TCF4
Group C bHLH-PAS	AhR AHRR ARNT ARNTL ARNTL2 CLOCK HIF 1A EPAS1 3A NPAS 1 2 3 PER 1 2 3 Period SIM 1 2
Group D	DEC 1 2 BHLHA9 Pho4 ID 1 2 3 4
Group E	HES 1 2 3 4 5 6 7 HEY 1 2 L
Group F bHLH-COE	EBF1

(1.3)bHLH-ZIP

(1.4) NF-1

NFI
- A
- B
- C
- X
SMAD
- R-SMAD
  - 1
  - 2
  - 3
  - 5
  - 9
- I-SMAD
  - 6
  - 7
- 4)

(1.5) RF-X

RFX
- 1
- 2
- 3
- 4
- 5
- 6
- ANK

(1.6) Basic helix-span-helix (bHSH)

AP-2
- α
- β
- γ
- δ
- ε

(2)Zinc finger DNA-binding domains

(2.1)Nuclear receptor(Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR
subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX
subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ
subfamily 4	NUR NGFIB NOR1 NURR1
subfamily 5	LRH-1 SF1
subfamily 6	GCNF
subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
Sp/KLF family
- KLF
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - 7
  - 8
  - 9
  - 10
  - 11
  - 12
  - 13
  - 14
  - 15
  - 17
- SP
  - 1
  - 2
  - 4
  - 7
  - 8
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 21
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655
- 804A

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3)Helix-turn-helixdomains

(3.1)Homeodomain

Antennapedia
ANTP class

protoHOX Hox-like	ParaHox Gsx 1 2 Xlox PDX1 Cdx 1 2 4 extended Hox:Evx1 Evx2 MEOX1 MEOX2 Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 GBX1 GBX2 MNX1
metaHOX NK-like	BARHL1 BARHL2 BARX1 BARX2 BSX DBX 1 2 DLX 1 2 3 4 5 6 EMX 1 2 EN 1 2 HHEX HLX LBX1 LBX2 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 HMX1 HMX2 HMX3 6-1 6-2 NOTO TLX1 TLX2 TLX3 VAX1 VAX2

other

ARX
CRX
CUTL1
FHL
- 1
- 2
- 3
HESX1
HOPX
LMX
- 1A
- 1B
NOBOX
TALE
- IRX
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - MKX
- MEIS
  - 1
  - 2
- PBX
  - 1
  - 2
  - 3
- PKNOX
  - 1
  - 2
- SIX
  - 1
  - 2
  - 3
  - 4
  - 5
PHF
- 1
- 3
- 6
- 8
- 10
- 16
- 17
- 20
- 21A
POU domain
- PIT-1
- BRN-3:A
- B
- C
- Octamer transcription factor:1
- 2
- 3/4
- 6
- 7
- 11
SATB2
ZEB
- 1
- 2

(3.2) Paired box

PAX
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
PRRX
- 1
- 2
PROP1
PHOX
- 2A
- 2B
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
- GSC
- BICD2
- OTX
  - 1
  - 2
- PITX
  - 1
  - 2
  - 3

(3.3)Fork head /winged helix

E2F
- 1
- 2
- 3
- 4
- 5
FOX proteins
- A1
- A2
- A3
- B1
- B2
- C1
- C2
- D1
- D2
- D3
- D4
- D4L1
- D4L3
- D4L4
- D4L5
- D4L6
- E1
- E3
- F1
- F2
- G1
- H1
- I1
- I2
- I3
- J1
- J2
- J3
- K1
- K2
- L1
- L2
- M1
- N1
- N2
- N3
- N4
- O1
- O3
- O4
- O6
- P1
- P2
- P3
- P4
- Q1
- R1
- R2
- S1

(3.4)Heat shock factors

HSF
- 1
- 2
- 4

(3.5) Tryptophan clusters

ELF
- 2
- 4
- 5
EHF
ELK
- 1
- 3
- 4
ERF
ETS
- 1
- 2
- ERG
- SPIB
ETV
- 1
- 4
- 5
- 6
FLI1
Interferon regulatory factors
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
MYB
MYBL2

(3.6) TEA domain

transcriptional enhancer factor
- 1
- 2
- 3
- 4

(4)β-Scaffold factors with minor groove contacts

(4.1)Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5
(4.2)STAT	STAT 1 2 3 4 5 6
(4.3) p53-like	p53 p63 p73 family p53 TP63 p73 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF
(4.4)MADS box	Mef2 A B C D SRF
(4.6)TATA-binding proteins	TBP TBPL1
(4.7)High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 17 18 21 SRY SSRP1 TCF/LEF TCF 1 3 4 LEF1 TOX 1 2 3 4
(4.9) Grainyhead	TFCP2
(4.10) Cold-shock domain	CSDA YBX1
(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1
(0.3)Pocket domain	Rb RBL1 RBL2
(0.5)AP-2/EREBP-related factors	Apetala 2 EREBP B3
(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see alsotranscription factor/coregulator deficiencies

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