Q9H334 (FOXP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Forkhead box protein P1

Gene names

Name:	FOXP1
ORF Names:	HSPC215

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	677 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional repressor. It plays an important role in the specification and differentiation of lung epithelium. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Essential transcriptional regulator of B-cell development By similarity. Ref.10
Subunit structure	Forms homodimers and heterodimers with FOXP2 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1 By similarity.
Subcellular location	Nucleus Probable.
Domain	The leucine-zipper is required for dimerization and transcriptional repression By similarity.
Involvement in disease	A chromosomal aberration involving FOXP1 is found in acute lymphoblastic leukemia. Translocation t(9;3)(p13;p14.1) with PAX5. Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]: A developmental disorder characterized by mild to moderate mental retardation, language impairment, and autistic features. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10
Sequence similarities	Contains 1 C2H2-type zinc finger. Contains 1 fork-head DNA-binding domain.
Sequence caution	The sequence AAF36135.1 differs from that shown. Reason: Frameshift at positions 531 and 545. The sequence ABI33105.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB55005.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Mental retardation
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Repressor
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle cell differentiation Inferred from Biological aspect of Ancestor. Source: RefGenome embryo development Inferred from Biological aspect of Ancestor. Source: RefGenome immunoglobulin V(D)J recombination Inferred from Biological aspect of Ancestor. Source: RefGenome in utero embryonic development Inferred from electronic annotation. Source: Compara lung development Inferred from electronic annotation. Source: Compara motor neuron axon guidance Inferred from electronic annotation. Source: Compara negative regulation of transcription, DNA-dependent Inferred from direct assay Ref.10. Source: UniProtKB pattern specification process Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of cardiac muscle cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of epithelial cell proliferation involved in lung morphogenesis Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of immunoglobulin production Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of mesenchymal cell proliferation Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara pre-B cell differentiation Inferred from Biological aspect of Ancestor. Source: RefGenome regulation of cardiac muscle cell proliferation Inferred from electronic annotation. Source: Compara regulation of sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome sarcomere organization Inferred from electronic annotation. Source: Compara skeletal muscle tissue development Inferred from Biological aspect of Ancestor. Source: RefGenome smooth muscle tissue development Inferred from Biological aspect of Ancestor. Source: RefGenome ventral spinal cord development Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome transcription factor complex Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	DNA binding, bending Inferred from Biological aspect of Ancestor. Source: RefGenome RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome chromatin binding Inferred from Biological aspect of Ancestor. Source: RefGenome double-stranded DNA binding Inferred from Biological aspect of Ancestor. Source: RefGenome protein heterodimerization activity Inferred from Biological aspect of Ancestor. Source: RefGenome protein homodimerization activity Inferred from Biological aspect of Ancestor. Source: RefGenome sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor binding Inferred from Biological aspect of Ancestor. Source: RefGenome zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9H334-1)

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 2 (identifier: Q9H334-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.
     140-227: Missing.

Isoform 3 (identifier: Q9H334-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MMQESGTETK...LAHAQQQQQQ → CRSTLVDPKN...APFAKLFIFS
     95-170: Missing.

Note: Incomplete sequence.

Isoform 4 (identifier: Q9H334-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MMQESGTETK...LAHAQQQQQQ → CRSTLVDPKN...APFAKLFIFS

Note: Incomplete sequence. No experimental confirmation available.

Isoform 5 (identifier: Q9H334-5)

The sequence of this isoform differs from the canonical sequence as follows:
     61-114: ALQVARQLLL...QVITPQQMQQ → WHLINHQPSR...PVCQPNPSPF
     115-677: Missing.

Isoform 6 (identifier: Q9H334-6)

The sequence of this isoform differs from the canonical sequence as follows:
     95-170: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 677

677

Forkhead box protein P1

PRO_0000091877

Regions

Zinc finger

306 – 331

26

C2H2-type

DNA binding

465 – 555

91

Fork-head

Region

348 – 369

22

Leucine-zipper

Region

382 – 386

5

CTBP1-binding By similarity

Compositional bias

55 – 230

176

Gln-rich

Sites

Site

59 – 60

2

Breakpoint for translocation to form PAX5-FOXP1

Natural variations

Alternative sequence

1 – 100

100

Missing in isoform 2.

VSP_001553

Alternative sequence

1 – 60

60

MMQES…QQQQQ → CRSTLVDPKNSARASQKQPE PIYSKKTEIQRQTVRAPFAK LFIFS in isoform 3 and isoform 4.

VSP_001555

Alternative sequence

61 – 114

54

ALQVA…QQMQQ → WHLINHQPSRSPSSWLKRLI SSPWELEVLQVPLWGAVAET KMSGPVCQPNPSPF in isoform 5.

VSP_043462

Alternative sequence

95 – 170

76

Missing in isoform 3 and isoform 6.

VSP_001556

Alternative sequence

115 – 677

563

Missing in isoform 5.

VSP_043463

Alternative sequence

140 – 227

88

Missing in isoform 2.

VSP_001554

Natural variant

5

1

S → P. Ref.12

VAR_065067

Natural variant

101

1

M → V. Ref.12

VAR_065068

Natural variant

215

1

P → A. Ref.10 Ref.11 Ref.12

VAR_065069

Natural variant

261

1

S → P. Ref.12

VAR_065070

Natural variant

390

1

T → S. Ref.12

VAR_065071

Natural variant

445

1

V → M. Ref.10

VAR_065072

Natural variant

570

1

N → S. Ref.10 Ref.12

VAR_065073

Natural variant

597

1

N → T. Ref.12

VAR_065074

Natural variant

613

1

T → N. Ref.10

VAR_065075

Experimental info

Sequence conflict

173

1

Q → R in BAB55005. Ref.3

Sequence conflict

205

1

L → V in BAB55005. Ref.3

Sequence conflict

210 – 212

3

GQP → ARA in AAK69408. Ref.1

Sequence conflict

450

1

Missing in AAK69408. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

677

Helix Strand Turn

Details...

Helix

470 – 479

10

Beta strand

481 – 486

6

Helix

488 – 498

11

Helix

500 – 502

3

Helix

506 – 519

14

Beta strand

523 – 526

4

Beta strand

533 – 536

4

Helix

538 – 543

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: AEE92D47BB20964B	FASTA	677	75,317
	10 20 30 40 50 60 MMQESGTETK SNGSAIQNGS GGSNHLLECG GLREGRSNGE TPAVDIGAAD LAHAQQQQQQ 70 80 90 100 110 120 ALQVARQLLL QQQQQQQVSG LKSPKRNDKQ PALQVPVSVA MMTPQVITPQ QMQQILQQQV 130 140 150 160 170 180 LSPQQLQVLL QQQQALMLQQ QQLQEFYKKQ QEQLQLQLLQ QQHAGKQPKE QQQVATQQLA 190 200 210 220 230 240 FQQQLLQMQQ LQQQHLLSLQ RQGLLTIQPG QPALPLQPLA QGMIPTELQQ LWKEVTSAHT 250 260 270 280 290 300 AEETTGNNHS SLDLTTTCVS SSAPSKTSLI MNPHASTNGQ LSVHTPKRES LSHEEHPHSH 310 320 330 340 350 360 PLYGHGVCKW PGCEAVCEDF QSFLKHLNSE HALDDRSTAQ CRVQMQVVQQ LELQLAKDKE 370 380 390 400 410 420 RLQAMMTHLH VKSTEPKAAP QPLNLVSSVT LSKSASEASP QSLPHTPTTP TAPLTPVTQG 430 440 450 460 470 480 PSVITTTSMH TVGPIRRRYS DKYNVPISSA DIAQNQEFYK NAEVRPPFTY ASLIRQAILE 490 500 510 520 530 540 SPEKQLTLNE IYNWFTRMFA YFRRNAATWK NAVRHNLSLH KCFVRVENVK GAVWTVDEVE 550 560 570 580 590 600 FQKRRPQKIS GNPSLIKNMQ SSHAYCTPLN AALQASMAEN SIPLYTTASM GNPTLGNLAS 610 620 630 640 650 660 AIREELNGAM EHTNSNESDS SPGRSPMQAV HPVHVKEEPL DPEEAEGPLS LVTTANHSPD 670 FDHDRDYEDE PVNEDME
	Isoform 2 [UniParc]. Checksum: 63DDAAD1B033BAF0	FASTA	489	54,563
	10 20 30 40 50 60 MMTPQVITPQ QMQQILQQQV LSPQQLQVLL QQQQALMLQL QQLWKEVTSA HTAEETTGNN 70 80 90 100 110 120 HSSLDLTTTC VSSSAPSKTS LIMNPHASTN GQLSVHTPKR ESLSHEEHPH SHPLYGHGVC 130 140 150 160 170 180 KWPGCEAVCE DFQSFLKHLN SEHALDDRST AQCRVQMQVV QQLELQLAKD KERLQAMMTH 190 200 210 220 230 240 LHVKSTEPKA APQPLNLVSS VTLSKSASEA SPQSLPHTPT TPTAPLTPVT QGPSVITTTS 250 260 270 280 290 300 MHTVGPIRRR YSDKYNVPIS SADIAQNQEF YKNAEVRPPF TYASLIRQAI LESPEKQLTL 310 320 330 340 350 360 NEIYNWFTRM FAYFRRNAAT WKNAVRHNLS LHKCFVRVEN VKGAVWTVDE VEFQKRRPQK 370 380 390 400 410 420 ISGNPSLIKN MQSSHAYCTP LNAALQASMA ENSIPLYTTA SMGNPTLGNL ASAIREELNG 430 440 450 460 470 480 AMEHTNSNES DSSPGRSPMQ AVHPVHVKEE PLDPEEAEGP LSLVTTANHS PDFDHDRDYE DEPVNEDME
	Isoform 3 [UniParc]. Checksum: 099643CD5B363BDF	FASTA	586	65,431
	10 20 30 40 50 60 CRSTLVDPKN SARASQKQPE PIYSKKTEIQ RQTVRAPFAK LFIFSALQVA RQLLLQQQQQ 70 80 90 100 110 120 QQVSGLKSPK RNDKQPALQQ QQVATQQLAF QQQLLQMQQL QQQHLLSLQR QGLLTIQPGQ 130 140 150 160 170 180 PALPLQPLAQ GMIPTELQQL WKEVTSAHTA EETTGNNHSS LDLTTTCVSS SAPSKTSLIM 190 200 210 220 230 240 NPHASTNGQL SVHTPKRESL SHEEHPHSHP LYGHGVCKWP GCEAVCEDFQ SFLKHLNSEH 250 260 270 280 290 300 ALDDRSTAQC RVQMQVVQQL ELQLAKDKER LQAMMTHLHV KSTEPKAAPQ PLNLVSSVTL 310 320 330 340 350 360 SKSASEASPQ SLPHTPTTPT APLTPVTQGP SVITTTSMHT VGPIRRRYSD KYNVPISSAD 370 380 390 400 410 420 IAQNQEFYKN AEVRPPFTYA SLIRQAILES PEKQLTLNEI YNWFTRMFAY FRRNAATWKN 430 440 450 460 470 480 AVRHNLSLHK CFVRVENVKG AVWTVDEVEF QKRRPQKISG NPSLIKNMQS SHAYCTPLNA 490 500 510 520 530 540 ALQASMAENS IPLYTTASMG NPTLGNLASA IREELNGAME HTNSNESDSS PGRSPMQAVH 550 560 570 580 PVHVKEEPLD PEEAEGPLSL VTTANHSPDF DHDRDYEDEP VNEDME
	Isoform 4 [UniParc]. Checksum: 168D2B3165278F9E	FASTA	662	74,330
	10 20 30 40 50 60 CRSTLVDPKN SARASQKQPE PIYSKKTEIQ RQTVRAPFAK LFIFSALQVA RQLLLQQQQQ 70 80 90 100 110 120 QQVSGLKSPK RNDKQPALQV PVSVAMMTPQ VITPQQMQQI LQQQVLSPQQ LQVLLQQQQA 130 140 150 160 170 180 LMLQQQQLQE FYKKQQEQLQ LQLLQQQHAG KQPKEQQQVA TQQLAFQQQL LQMQQLQQQH 190 200 210 220 230 240 LLSLQRQGLL TIQPGQPALP LQPLAQGMIP TELQQLWKEV TSAHTAEETT GNNHSSLDLT 250 260 270 280 290 300 TTCVSSSAPS KTSLIMNPHA STNGQLSVHT PKRESLSHEE HPHSHPLYGH GVCKWPGCEA 310 320 330 340 350 360 VCEDFQSFLK HLNSEHALDD RSTAQCRVQM QVVQQLELQL AKDKERLQAM MTHLHVKSTE 370 380 390 400 410 420 PKAAPQPLNL VSSVTLSKSA SEASPQSLPH TPTTPTAPLT PVTQGPSVIT TTSMHTVGPI 430 440 450 460 470 480 RRRYSDKYNV PISSADIAQN QEFYKNAEVR PPFTYASLIR QAILESPEKQ LTLNEIYNWF 490 500 510 520 530 540 TRMFAYFRRN AATWKNAVRH NLSLHKCFVR VENVKGAVWT VDEVEFQKRR PQKISGNPSL 550 560 570 580 590 600 IKNMQSSHAY CTPLNAALQA SMAENSIPLY TTASMGNPTL GNLASAIREE LNGAMEHTNS 610 620 630 640 650 660 NESDSSPGRS PMQAVHPVHV KEEPLDPEEA EGPLSLVTTA NHSPDFDHDR DYEDEPVNED ME
	Isoform 5 [UniParc]. Checksum: A1CC32BD8BBC4EA5	FASTA	114	12,256
	10 20 30 40 50 60 MMQESGTETK SNGSAIQNGS GGSNHLLECG GLREGRSNGE TPAVDIGAAD LAHAQQQQQQ 70 80 90 100 110 WHLINHQPSR SPSSWLKRLI SSPWELEVLQ VPLWGAVAET KMSGPVCQPN PSPF
	Isoform 6 [UniParc]. Checksum: 599FC834381D194C	FASTA	601	66,417
	10 20 30 40 50 60 MMQESGTETK SNGSAIQNGS GGSNHLLECG GLREGRSNGE TPAVDIGAAD LAHAQQQQQQ 70 80 90 100 110 120 ALQVARQLLL QQQQQQQVSG LKSPKRNDKQ PALQQQQVAT QQLAFQQQLL QMQQLQQQHL 130 140 150 160 170 180 LSLQRQGLLT IQPGQPALPL QPLAQGMIPT ELQQLWKEVT SAHTAEETTG NNHSSLDLTT 190 200 210 220 230 240 TCVSSSAPSK TSLIMNPHAS TNGQLSVHTP KRESLSHEEH PHSHPLYGHG VCKWPGCEAV 250 260 270 280 290 300 CEDFQSFLKH LNSEHALDDR STAQCRVQMQ VVQQLELQLA KDKERLQAMM THLHVKSTEP 310 320 330 340 350 360 KAAPQPLNLV SSVTLSKSAS EASPQSLPHT PTTPTAPLTP VTQGPSVITT TSMHTVGPIR 370 380 390 400 410 420 RRYSDKYNVP ISSADIAQNQ EFYKNAEVRP PFTYASLIRQ AILESPEKQL TLNEIYNWFT 430 440 450 460 470 480 RMFAYFRRNA ATWKNAVRHN LSLHKCFVRV ENVKGAVWTV DEVEFQKRRP QKISGNPSLI 490 500 510 520 530 540 KNMQSSHAYC TPLNAALQAS MAENSIPLYT TASMGNPTLG NLASAIREEL NGAMEHTNSN 550 560 570 580 590 600 ESDSSPGRSP MQAVHPVHVK EEPLDPEEAE GPLSLVTTAN HSPDFDHDRD YEDEPVNEDM E

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p." Banham A.H., Beasley N., Campo E., Fernandez P.L., Fidler C., Gatter K., Jones M., Mason D.Y., Prime J.E., Trougouboff P., Wood K., Cordell J.L. Cancer Res. 61:8820-8829(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Testis.
[2]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
[3]	"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 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 101-677 (ISOFORM 4). Tissue: Embryonic head.
[4]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton 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].
[6]	"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 5). Tissue: Lung.
[7]	"Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia." Mullighan C.G., Goorha S., Radtke I., Miller C.B., Coustan-Smith E., Dalton J.D., Girtman K., Mathew S., Ma J., Pounds S.B., Su X., Pui C.-H., Relling M.V., Evans W.E., Shurtleff S.A., Downing J.R. Nature 446:758-764(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 60-677, CHROMOSOMAL TRANSLOCATION WITH PAX5.
[8]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 528-677. Tissue: Umbilical cord blood.
[9]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[10]	"De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment." Hamdan F.F., Daoud H., Rochefort D., Piton A., Gauthier J., Langlois M., Foomani G., Dobrzeniecka S., Krebs M.O., Joober R., Lafreniere R.G., Lacaille J.C., Mottron L., Drapeau P., Beauchamp M.H., Phillips M.S., Fombonne E., Rouleau G.A., Michaud J.L. Am. J. Hum. Genet. 87:671-678(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INVOLVEMENT IN MRLIAF, VARIANTS ALA-215; MET-445; SER-570 AND ASN-613.
[11]	"Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia." Vernes S.C., MacDermot K.D., Monaco A.P., Fisher S.E. Eur. J. Hum. Genet. 17:1354-1358(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ALA-215.
[12]	"Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits." Horn D., Kapeller J., Rivera-Brugues N., Moog U., Lorenz-Depiereux B., Eck S., Hempel M., Wagenstaller J., Gawthrope A., Monaco A.P., Bonin M., Riess O., Wohlleber E., Illig T., Bezzina C.R., Franke A., Spranger S., Villavicencio-Lorini P. , Seifert W., Rosenfeld J., Klopocki E., Rappold G.A., Strom T.M. Hum. Mutat. 31:E1851-E1860(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PRO-5; VAL-101; ALA-215; PRO-261; SER-390; SER-570 AND THR-597.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF146696 mRNA. Translation: AAG47632.1.
AF146697 mRNA. Translation: AAG47633.1.
AF146698 mRNA. Translation: AAG47634.1.
AF275309 mRNA. Translation: AAK69408.1.
BT006643 mRNA. Translation: AAP35289.1.
AK092383 mRNA. Translation: BAC03875.1.
AC097632 Genomic DNA. No translation available.
AC097634 Genomic DNA. No translation available.
AC103586 Genomic DNA. No translation available.
AC104442 Genomic DNA. No translation available.
AC104645 Genomic DNA. No translation available.
AC138058 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW65499.1.
BC005055 mRNA. Translation: AAH05055.1.
BC054815 mRNA. Translation: AAH54815.1.
BC071893 mRNA. Translation: AAH71893.1.
BC080521 mRNA. Translation: AAH80521.1.
DQ845346 mRNA. Translation: ABI33105.1. Different initiation.
AK027264 mRNA. Translation: BAB55005.1. Different initiation.
AF151049 mRNA. Translation: AAF36135.1. Frameshift.

IPI

IPI00013412.
IPI00023098.
IPI00220201.
IPI00220203.
IPI00748383.

RefSeq

NP_001012523.1. NM_001012505.1.
NP_001231741.1. NM_001244812.1.
NP_001231743.1. NM_001244814.1.
NP_001231744.1. NM_001244815.1.
NP_001231745.1. NM_001244816.1.
NP_116071.2. NM_032682.5.

UniGene

Hs.59368.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2KIU	NMR	-	A	462-548	[»]

ProteinModelPortal

Q9H334.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-36585N.

IntAct

Q9H334. 9 interactions.

STRING

9606.ENSP00000318902.

PTM databases

PhosphoSite

Q9H334.

Polymorphism databases

DMDM

14548062.

Proteomic databases

PaxDb

Q9H334.

PRIDE

Q9H334.

Protocols and materials databases

DNASU

27086.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000318779; ENSP00000318721; ENSG00000114861.
ENST00000318789; ENSP00000318902; ENSG00000114861.
ENST00000475937; ENSP00000419393; ENSG00000114861.
ENST00000484350; ENSP00000417857; ENSG00000114861.
ENST00000498215; ENSP00000418102; ENSG00000114861.

GeneID

27086.

KEGG

hsa:27086.

UCSC

uc003doi.3. human.
uc003dok.3. human.

Organism-specific databases

CTD

27086.

GeneCards

GC03M071088.

HGNC

HGNC:3823. FOXP1.

HPA

CAB011501.
HPA003876.

MIM

605515. gene.
613670. phenotype.

neXtProt

NX_Q9H334.

Orphanet

52417. MALT lymphoma.

PharmGKB

PA28241.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5025.

HOGENOM

HOG000092089.

HOVERGEN

HBG051657.

InParanoid

Q9H334.

OrthoDB

EOG4FR0RQ.

PhylomeDB

Q9H334.

Gene expression databases

ArrayExpress

Q9H334.

Bgee

Q9H334.

CleanEx

HS_FOXP1.

Genevestigator

Q9H334.

GermOnline

ENSG00000114861. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.10. 1 hit.

InterPro

IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
IPR015880. Znf_C2H2-like.
[Graphical view]

Pfam

PF00250. Fork_head. 1 hit.
[Graphical view]

PRINTS

PR00053. FORKHEAD.

SMART

SM00339. FH. 1 hit.
SM00355. ZnF_C2H2. 1 hit.
[Graphical view]

PROSITE

PS00657. FORK_HEAD_1. False negative.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

FOXP1. human.

GenomeRNAi

27086.

NextBio

49693.

SOURCE

Search...

Entry information

Entry name

FOXP1_HUMAN

Accession

Primary (citable) accession number: Q9H334
Secondary accession number(s): A3QVP8 , Q8NAN6, Q9BSG9, Q9H332, Q9H333, Q9P0R1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 126 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.