Reviewed, UniProtKB/Swiss-Prot O75400 (PR40A_HUMAN)

Names and origin

Protein names

Recommended name:
    Pre-mRNA-processing factor 40 homolog A
Alternative name(s):
    Formin-binding protein 3
    Formin-binding protein 11
    Huntingtin-interacting protein A
    Huntingtin yeast partner A
    Fas ligand-associated factor 1
    NY-REN-6 antigen

Gene names

Name:	PRPF40A
Synonyms:	FBP11, FLAF1, FNBP3, HYPA
ORF Names:	HSPC225

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	957 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function By similarity. May be involved in pre-mRNA splicing.
Subunit structure	Interacts with the N-terminus of HTT. Interacts with the phosphorylated carboxyterminal domain of POLR2A. Interacts with SF1, SRPK1 CARD8, ATBF1 and MECP2 By similarity. Interacts through the WW domains with formin proline-rich regions and with WASL/N-WASP By similarity.
Subcellular location	Nucleus speckleBy similarity.
Tissue specificity	Widely expressed. Ref.2
Domain	The WW domains are essential for localization to nuclear speckles By similarity.
Sequence similarities	Belongs to the PRPF40 family. Contains 5 FF domains. Contains 2 WW domains.
Sequence caution	The sequence AAD42862.1 differs from that shown. Reason: Frameshift at position 953. The sequence AAF36145.1 differs from that shown. Reason: Frameshift at several positions. The sequence AAH11788.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence starting in position 409. The sequence BAB15016.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	RNA splicing Inferred from electronic annotation. Source: UniProtKB-KW mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nuclear speck Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CHD3	Q12873	1	EBI-473291,EBI-523590
RNPS1	Q15287	1	EBI-473291,EBI-395959

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75400-1)

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: O75400-2)

The sequence of this isoform differs from the canonical sequence as follows:
     14-55: Missing.

Isoform 3 (identifier: O75400-3)

The sequence of this isoform differs from the canonical sequence as follows:
     220-237: Missing.

Isoform 4 (identifier: O75400-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 957

957

Pre-mRNA-processing factor 40 homolog A

PRO_0000076085

Regions

Domain

140 – 173

34

WW 1

Domain

181 – 214

34

WW 2

Domain

393 – 447

55

FF 1

Domain

460 – 519

60

FF 2

Domain

527 – 587

61

FF 3

Domain

607 – 667

61

FF 4

Domain

743 – 799

57

FF 5

Amino acid modifications

Modified residue

34

1

Phosphoserine Ref.12

Modified residue

36

1

Phosphoserine By similarity

Modified residue

373

1

Phosphothreonine Ref.10

Modified residue

883

1

Phosphoserine Ref.10 Ref.13

Modified residue

885

1

Phosphoserine Ref.10 Ref.13

Modified residue

888

1

Phosphoserine Ref.10 Ref.13 Ref.9

Modified residue

932

1

Phosphothreonine Ref.10 Ref.13 Ref.11

Modified residue

933

1

Phosphoserine Ref.10 Ref.13

Modified residue

935

1

Phosphoserine Ref.10 Ref.13

Modified residue

938

1

Phosphoserine Ref.10 Ref.13 Ref.9

Natural variations

Alternative sequence

1 – 131

131

Missing in isoform 4.

VSP_009363

Alternative sequence

14 – 55

42

Missing in isoform 2.

VSP_008047

Alternative sequence

220 – 237

18

Missing in isoform 3.

VSP_008048

Experimental info

Sequence conflict

372 – 373

2

FT → LL in AAB93495. Ref.5

Sequence conflict

433

1

K → N in AAC27501 and AAC27506. Ref.2

Sequence conflict

787

1

S → P in BAA91277. Ref.3

Secondary structure

1

.

.

.

.

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957

Helix Strand Turn

Details...

Beta strand

146 – 151

6

Turn

152 – 154

3

Beta strand

155 – 160

6

Turn

161 – 164

4

Beta strand

165 – 169

5

Helix

393 – 406

14

Helix

415 – 423

9

Helix

426 – 430

5

Helix

434 – 447

14

Helix

743 – 755

13

Helix

767 – 774

8

Helix

778 – 781

4

Helix

786 – 804

19

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 22, 2003. Version 2. Checksum: 8874D0C1CE1FCDAF	FASTA	957	108,805
	10 20 30 40 50 60 MRPGTGAERG GLMVSEMESH PPSQGPGDGE RRLSGSSLCS GSWVSADGFL RRRPSMGHPG 70 80 90 100 110 120 MHYAPMGMHP MGQRANMPPV PHGMMPQMMP PMGGPPMGQM PGMMSSVMPG MMMSHMSQAS 130 140 150 160 170 180 MQPALPPGVN SMDVAAGTAS GAKSMWTEHK SPDGRTYYYN TETKQSTWEK PDDLKTPAEQ 190 200 210 220 230 240 LLSKCPWKEY KSDSGKPYYY NSQTKESRWA KPKELEDLEG YQNTIVAGSL ITKSNLHAMI 250 260 270 280 290 300 KAEESSKQEE CTTTSTAPVP TTEIPTTMST MAAAEAAAAV VAAAAAAAAA AAAANANAST 310 320 330 340 350 360 SASNTVSGTV PVVPEPEVTS IVATVVDNEN TVTISTEEQA QLTSTPAIQD QSVEVSSNTG 370 380 390 400 410 420 EETSKQETVA DFTPKKEEEE SQPAKKTYTW NTKEEAKQAF KELLKEKRVP SNASWEQAMK 430 440 450 460 470 480 MIINDPRYSA LAKLSEKKQA FNAYKVQTEK EEKEEARSKY KEAKESFQRF LENHEKMTST 490 500 510 520 530 540 TRYKKAEQMF GEMEVWNAIS ERDRLEIYED VLFFLSKKEK EQAKQLRKRN WEALKNILDN 550 560 570 580 590 600 MANVTYSTTW SEAQQYLMDN PTFAEDEELQ NMDKEDALIC FEEHIRALEK EEEEEKQKSL 610 620 630 640 650 660 LRERRRQRKN RESFQIFLDE LHEHGQLHSM SSWMELYPTI SSDIRFTNML GQPGSTALDL 670 680 690 700 710 720 FKFYVEDLKA RYHDEKKIIK DILKDKGFVV EVNTTFEDFV AIISSTKRST TLDAGNIKLA 730 740 750 760 770 780 FNSLLEKAEA REREREKEEA RKMKRKESAF KSMLKQAAPP IELDAVWEDI RERFVKEPAF 790 800 810 820 830 840 EDITLESERK RIFKDFMHVL EHECQHHHSK NKKHSKKSKK HHRKRSRSRS GSDSDDDDSH 850 860 870 880 890 900 SKKKRQRSES RSASEHSSSA ESERSYKKSK KHKKKSKKRR HKSDSPESDA EREKDKKEKD 910 920 930 940 950 RESEKDRTRQ RSESKHKSPK KKTGKDSGNW DTSGSELSEG ELEKRRRTLL EQLDDDQ
	Isoform 2. Checksum: 000A05F5EB2CEEC6		915	104,363
	10 20 30 40 50 60 MRPGTGAERG GLMMGHPGMH YAPMGMHPMG QRANMPPVPH GMMPQMMPPM GGPPMGQMPG 70 80 90 100 110 120 MMSSVMPGMM MSHMSQASMQ PALPPGVNSM DVAAGTASGA KSMWTEHKSP DGRTYYYNTE 130 140 150 160 170 180 TKQSTWEKPD DLKTPAEQLL SKCPWKEYKS DSGKPYYYNS QTKESRWAKP KELEDLEGYQ 190 200 210 220 230 240 NTIVAGSLIT KSNLHAMIKA EESSKQEECT TTSTAPVPTT EIPTTMSTMA AAEAAAAVVA 250 260 270 280 290 300 AAAAAAAAAA AANANASTSA SNTVSGTVPV VPEPEVTSIV ATVVDNENTV TISTEEQAQL 310 320 330 340 350 360 TSTPAIQDQS VEVSSNTGEE TSKQETVADF TPKKEEEESQ PAKKTYTWNT KEEAKQAFKE 370 380 390 400 410 420 LLKEKRVPSN ASWEQAMKMI INDPRYSALA KLSEKKQAFN AYKVQTEKEE KEEARSKYKE 430 440 450 460 470 480 AKESFQRFLE NHEKMTSTTR YKKAEQMFGE MEVWNAISER DRLEIYEDVL FFLSKKEKEQ 490 500 510 520 530 540 AKQLRKRNWE ALKNILDNMA NVTYSTTWSE AQQYLMDNPT FAEDEELQNM DKEDALICFE 550 560 570 580 590 600 EHIRALEKEE EEEKQKSLLR ERRRQRKNRE SFQIFLDELH EHGQLHSMSS WMELYPTISS 610 620 630 640 650 660 DIRFTNMLGQ PGSTALDLFK FYVEDLKARY HDEKKIIKDI LKDKGFVVEV NTTFEDFVAI 670 680 690 700 710 720 ISSTKRSTTL DAGNIKLAFN SLLEKAEARE REREKEEARK MKRKESAFKS MLKQAAPPIE 730 740 750 760 770 780 LDAVWEDIRE RFVKEPAFED ITLESERKRI FKDFMHVLEH ECQHHHSKNK KHSKKSKKHH 790 800 810 820 830 840 RKRSRSRSGS DSDDDDSHSK KKRQRSESRS ASEHSSSAES ERSYKKSKKH KKKSKKRRHK 850 860 870 880 890 900 SDSPESDAER EKDKKEKDRE SEKDRTRQRS ESKHKSPKKK TGKDSGNWDT SGSELSEGEL 910 EKRRRTLLEQ LDDDQ
	Isoform 3. Checksum: 05527BF2FC5C9449		939	106,907
	10 20 30 40 50 60 MRPGTGAERG GLMVSEMESH PPSQGPGDGE RRLSGSSLCS GSWVSADGFL RRRPSMGHPG 70 80 90 100 110 120 MHYAPMGMHP MGQRANMPPV PHGMMPQMMP PMGGPPMGQM PGMMSSVMPG MMMSHMSQAS 130 140 150 160 170 180 MQPALPPGVN SMDVAAGTAS GAKSMWTEHK SPDGRTYYYN TETKQSTWEK PDDLKTPAEQ 190 200 210 220 230 240 LLSKCPWKEY KSDSGKPYYY NSQTKESRWA KPKELEDLEA MIKAEESSKQ EECTTTSTAP 250 260 270 280 290 300 VPTTEIPTTM STMAAAEAAA AVVAAAAAAA AAAAAANANA STSASNTVSG TVPVVPEPEV 310 320 330 340 350 360 TSIVATVVDN ENTVTISTEE QAQLTSTPAI QDQSVEVSSN TGEETSKQET VADFTPKKEE 370 380 390 400 410 420 EESQPAKKTY TWNTKEEAKQ AFKELLKEKR VPSNASWEQA MKMIINDPRY SALAKLSEKK 430 440 450 460 470 480 QAFNAYKVQT EKEEKEEARS KYKEAKESFQ RFLENHEKMT STTRYKKAEQ MFGEMEVWNA 490 500 510 520 530 540 ISERDRLEIY EDVLFFLSKK EKEQAKQLRK RNWEALKNIL DNMANVTYST TWSEAQQYLM 550 560 570 580 590 600 DNPTFAEDEE LQNMDKEDAL ICFEEHIRAL EKEEEEEKQK SLLRERRRQR KNRESFQIFL 610 620 630 640 650 660 DELHEHGQLH SMSSWMELYP TISSDIRFTN MLGQPGSTAL DLFKFYVEDL KARYHDEKKI 670 680 690 700 710 720 IKDILKDKGF VVEVNTTFED FVAIISSTKR STTLDAGNIK LAFNSLLEKA EAREREREKE 730 740 750 760 770 780 EARKMKRKES AFKSMLKQAA PPIELDAVWE DIRERFVKEP AFEDITLESE RKRIFKDFMH 790 800 810 820 830 840 VLEHECQHHH SKNKKHSKKS KKHHRKRSRS RSGSDSDDDD SHSKKKRQRS ESRSASEHSS 850 860 870 880 890 900 SAESERSYKK SKKHKKKSKK RRHKSDSPES DAEREKDKKE KDRESEKDRT RQRSESKHKS 910 920 930 PKKKTGKDSG NWDTSGSELS EGELEKRRRT LLEQLDDDQ
	Isoform 4. Checksum: 842907D0BBE52991		826	95,021
	10 20 30 40 50 60 MDVAAGTASG AKSMWTEHKS PDGRTYYYNT ETKQSTWEKP DDLKTPAEQL LSKCPWKEYK 70 80 90 100 110 120 SDSGKPYYYN SQTKESRWAK PKELEDLEGY QNTIVAGSLI TKSNLHAMIK AEESSKQEEC 130 140 150 160 170 180 TTTSTAPVPT TEIPTTMSTM AAAEAAAAVV AAAAAAAAAA AAANANASTS ASNTVSGTVP 190 200 210 220 230 240 VVPEPEVTSI VATVVDNENT VTISTEEQAQ LTSTPAIQDQ SVEVSSNTGE ETSKQETVAD 250 260 270 280 290 300 FTPKKEEEES QPAKKTYTWN TKEEAKQAFK ELLKEKRVPS NASWEQAMKM IINDPRYSAL 310 320 330 340 350 360 AKLSEKKQAF NAYKVQTEKE EKEEARSKYK EAKESFQRFL ENHEKMTSTT RYKKAEQMFG 370 380 390 400 410 420 EMEVWNAISE RDRLEIYEDV LFFLSKKEKE QAKQLRKRNW EALKNILDNM ANVTYSTTWS 430 440 450 460 470 480 EAQQYLMDNP TFAEDEELQN MDKEDALICF EEHIRALEKE EEEEKQKSLL RERRRQRKNR 490 500 510 520 530 540 ESFQIFLDEL HEHGQLHSMS SWMELYPTIS SDIRFTNMLG QPGSTALDLF KFYVEDLKAR 550 560 570 580 590 600 YHDEKKIIKD ILKDKGFVVE VNTTFEDFVA IISSTKRSTT LDAGNIKLAF NSLLEKAEAR 610 620 630 640 650 660 EREREKEEAR KMKRKESAFK SMLKQAAPPI ELDAVWEDIR ERFVKEPAFE DITLESERKR 670 680 690 700 710 720 IFKDFMHVLE HECQHHHSKN KKHSKKSKKH HRKRSRSRSG SDSDDDDSHS KKKRQRSESR 730 740 750 760 770 780 SASEHSSSAE SERSYKKSKK HKKKSKKRRH KSDSPESDAE REKDKKEKDR ESEKDRTRQR 790 800 810 820 SESKHKSPKK KTGKDSGNWD TSGSELSEGE LEKRRRTLLE QLDDDQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Huntingtin interacts with a family of WW domain proteins." Faber P.W., Barnes G.T., Srinidhi J., Chen J., Gusella J.F., MacDonald M.E. Hum. Mol. Genet. 7:1463-1474(1998) [PubMed: 9700202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-448 (ISOFORMS 1 AND 2), INTERACTION WITH HTT, TISSUE SPECIFICITY. Tissue: Frontal cortex.
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-450 AND