Q6ZS30 (NBEL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neurobeachin-like protein 1

Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein

Gene names

Name:	NBEAL1
Synonyms:	ALS2CR16, ALS2CR17

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	2694 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Tissue specificity	Highly expressed in brain, kidney, prostate and testis. Weakly expressed in ovary, small intestine, colon and peripheral blood leukocytes. May be correlative to several tumors, such as ovary serous adenocarcinoma and metastasis mammary gland carcinoma breast. Ref.4
Sequence similarities	Belongs to the WD repeat neurobeachin family. Contains 1 BEACH domain. Contains 2 WD repeats.
Sequence caution	The sequence AAO45288.1 differs from that shown. Reason: Frameshift at positions 1666 and 1675. The sequence BAB69027.1 differs from that shown. Reason: Erroneous termination at position 2695. Translated as stop. The sequence BAC85289.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC87125.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC87543.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 2 (identifier: Q6ZS30-2)

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 1 (identifier: Q6ZS30-1)

The sequence of this isoform differs from the canonical sequence as follows:
     2279-2347: Missing.
     2522-2542: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2694	2694	Neurobeachin-like protein 1		PRO_0000051094
Regions
	Domain	1992 – 2284	293	BEACH
	Repeat	2439 – 2478	40	WD 1
	Repeat	2490 – 2531	42	WD 2
Natural variations
	Alternative sequence	2279 – 2347	69	Missing in isoform 1.		VSP_039337
	Alternative sequence	2522 – 2542	21	Missing in isoform 1.		VSP_039338
Experimental info
	Sequence conflict	1763	1	Q → R in BAC87125. Ref.3
	Sequence conflict	2330	1	I → V in BAC87543. Ref.3
	Sequence conflict	2330	1	I → V in AAO45288. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified June 15, 2010. Version 3. Checksum: B62684F310239FA9	FASTA	2,694	307,237
	10 20 30 40 50 60 MASRERLFEL WMLYCTKKDP DYLKLWLDTF VSSYEQFLDV DFEKLPTRVD DMPPGISLLP 70 80 90 100 110 120 DNILQVLRIQ LLQCVQKMAD GLEEQQQALS ILLVKFFIIL CRNLSNVEEI GTCSYINYVI 130 140 150 160 170 180 TMTTLYIQQL KSKKKEKEMA DQTCIEEFVI HALAFCESLY DPYRNWRHRI SGRILSTVEK 190 200 210 220 230 240 SRQKYKPASL TVEFVPFFYQ CFQESEHLKE SLKCCLLHLF GAIVAGGQRN ALQAISPATM 250 260 270 280 290 300 EVLMRVLADC DSWEDGDPEE VGRKAELTLK CLTEVVHILL SSNSDQRQVE TSTILENYFK 310 320 330 340 350 360 LLNSDHSALP NQRRSRQWEN RFIALQIKML NTITAMLDCT DRPVLQAIFL NSNCFEHLIR 370 380 390 400 410 420 LLQNCKVFQG QLDCLAISTI QALTAVMNKS PAAKEVFKER IGYTHMLEVL KSLGQPPLEL 430 440 450 460 470 480 LKELMNMAVE GDHTSVGILG ISNVQPLLLL IQWLPELQSH DLQIFISDWL KRICCINRQS 490 500 510 520 530 540 RTTCVNANMG IRIIETLDLH SSLHQTCAEN LIAIHGSLGS QSVSSEEIRR LLRLLRVDES 550 560 570 580 590 600 ESVHPYVTPV TRAILTMARK LSLESALQYF NLSHSMAGIS VPPIQKWPGS AFSFSAWFCL 610 620 630 640 650 660 DQDQLTLGIA NKGGKRKQLY SFFTGSGMGF EAFITHSGML VVAVCTKREY ATVMLPDHSF 670 680 690 700 710 720 CDSLWHNITV VHMPGKRPFG QSFVYIYDNG QQKVSAPLRF PAMNEPFTSC CIGSAGQRTT 730 740 750 760 770 780 TPPPSQIPDP PFSSPITPHR TSFGGILSSA SWGGTIEKSK LITKLISAGT QDSEWGCPTS 790 800 810 820 830 840 LEGQLGSVII FYEPLQPPQV KALYLAGPNC LSPWKCQESD MADLPGNILL YYTAKACKNS 850 860 870 880 890 900 ICLDLSTNCL HGRLTGNKVV NWDIKDIINC IGGLNVLFPL LEQISHFSEG QIPEEKNEST 910 920 930 940 950 960 VPESVTPVEG DWLVWTSTKA SESRLERNLV ATFILIVKHF IQRHPINQGN LIHSHGVATL 970 980 990 1000 1010 1020 GALLQKVPST LMDVNVLMAV QLLIEQVSLE KNMQLLQQMY QYLLFDFRIW NRGDFPFRIG 1030 1040 1050 1060 1070 1080 HIQYLSTIIK DSRRVFRKKY GVQFLLDTLR IYYGNGCKYN ELSLDDIRTI RTSLYGLIKY 1090 1100 1110 1120 1130 1140 FLCKGGSHEE IQSIMGYIAA TNEEEQLFGI LDVLFSLLRT SPTRGQLFLL LFEPGNADIL 1150 1160 1170 1180 1190 1200 YALLLNQKYS DRLREIIFKI MEQMLKCTNV YERSKQHIRL REVGYSGLGL LLNEALVNTS 1210 1220 1230 1240 1250 1260 LIKNLTHQII NTDPVINFKD LLSVVYISHR AHINVRVAIC RKVLQILQFQ PDAAHQISQQ 1270 1280 1290 1300 1310 1320 VGWQDTLVRL FLKAKFENGN TLHKHSRAVL MKDNDKNMST EDTKKNSDEK TDEEKITSFA 1330 1340 1350 1360 1370 1380 SANVSSDQWS LEDRHSLDSN TPLFPEDSSV GELSFKSENQ EEFWHSNPSH LSLDLSGIDS 1390 1400 1410 1420 1430 1440 CEMSDSGSQV PDSLPSTPSP VESTKSFSVH SDRESSITND MGFSDDFSLL ESQERCEEEL 1450 1460 1470 1480 1490 1500 LQLLTHILNY VMCKGLEKSD DDTWIERGQV FSALSKPGIS SELLRPSDEI KLTLLQKMLE 1510 1520 1530 1540 1550 1560 WAISENREAK TNPVTAENAF RLVLIIQDFL QSEGLVNSNM WTEKLLEDMM LLFDCLSVCY 1570 1580 1590 1600 1610 1620 SESPVWVKLS QIQIQLLLGF IGRGNLQVCA MASAKLNTLL QTKVIENQDE ACYILGKLEH 1630 1640 1650 1660 1670 1680 VLSQSIKEQT EIYSFLIPLV RTLVSKIYEL LFMNLHLPSL PFTNGSSSFF EDFQEYCNSN 1690 1700 1710 1720 1730 1740 EWQVYIEKYI VPYMKQYEAH TFYDGHENMA LYWKDCYEAL MVNMHKRDRE GGESKLKFQE 1750 1760 1770 1780 1790 1800 LFVEPFNRKA RQENLRYNNM LKQLSSQQLA TLRRWKAIQL YLTCERGPWA KRKQNPIHWK 1810 1820 1830 1840 1850 1860 LANVENYSRM RLKLVPNYNF KTHEEASALR DNLGIQHSQP SSDTLLLEVV KQVKVSDMVE 1870 1880 1890 1900 1910 1920 DKLDLPEEDI TARVNVDEKE EQDQKEKLVL MEDCELITII DVIPGRLEIT TQHIYFYDGS 1930 1940 1950 1960 1970 1980 IEKEDGVGFD FKWPHSQIRE IHLRRYNLRR SALEIFHVDQ SNYFLNFKKE VRNKIYSRLL 1990 2000 2010 2020 2030 2040 SLHSPNSYYG SRSPQELFKA SGLTQKWVNR EISNFDYLIQ INTMAGRTYN DLAQYPVFPW 2050 2060 2070 2080 2090 2100 ILQDYTSEEL DLNNPAVFRD LSKPIGVVNE KNAKAMREKY ENFEDPMGTI DKFHYGTHYS 2110 2120 2130 2140 2150 2160 NSAGVMHYLI RVEPFTTLHI QLQSGRFDCA DRQFHSIPAT WQALMDNPYD VKELIPEFFY 2170 2180 2190 2200 2210 2220 FPEFLENQNQ FNLGRLQISK ELVNDVILPK WAKSAEDFIY KHRKALESEY VSAHLHEWID 2230 2240 2250 2260 2270 2280 LIFGYKQRGP AAVEALNVFY YCSYEGAVDL DALTDEKERK ALEGMINNFG QTPCQLLKEP 2290 2300 2310 2320 2330 2340 HPPRLSAEEA VQKPTKIDTS TLNLFQHLPE LKSFFIEGIS DGIPLLKATI PKNQYRSFMS 2350 2360 2370 2380 2390 2400 QGSPELLITI SMNYVIGTHG WLPYDRNISN YFTFIKDQTV TNPKTQRSIN GSFAPGLEIT 2410 2420 2430 2440 2450 2460 SKLFVVSHDA KLLFSAGYWD NSIQVMSLTK GKIISHIIRH MDIVTCLATD YCGIHLISGS 2470 2480 2490 2500 2510 2520 RDTTCMIWQI TQQGGVPVGL ASKPFQILYG HTNEVLSVGI STELDMAVSG SRDGTVIIHT 2530 2540 2550 2560 2570 2580 IQKGQYMRTL RPPCESSLFL TIPNLAISWE GHIVVYSSTE EKTTLKDKNA LHLFSINGKY 2590 2600 2610 2620 2630 2640 LGSQILKEQV SDICIIGEHI VTGSIQGFLS IRDLHSLNLS INPLAMRLPI HCVCVTKEYS 2650 2660 2670 2680 2690 HILVGLEDGK LIVVGVGKPA EMRSGQLSRK FWGSSKRLSQ ISAGETEYNT QDSK
	Isoform 1 [UniParc]. Checksum: CB20DA3739064FD7	FASTA	2,604	297,072
	10 20 30 40 50 60 MASRERLFEL WMLYCTKKDP DYLKLWLDTF VSSYEQFLDV DFEKLPTRVD DMPPGISLLP 70 80 90 100 110 120 DNILQVLRIQ LLQCVQKMAD GLEEQQQALS ILLVKFFIIL CRNLSNVEEI GTCSYINYVI 130 140 150 160 170 180 TMTTLYIQQL KSKKKEKEMA DQTCIEEFVI HALAFCESLY DPYRNWRHRI SGRILSTVEK 190 200 210 220 230 240 SRQKYKPASL TVEFVPFFYQ CFQESEHLKE SLKCCLLHLF GAIVAGGQRN ALQAISPATM 250 260 270 280 290 300 EVLMRVLADC DSWEDGDPEE VGRKAELTLK CLTEVVHILL SSNSDQRQVE TSTILENYFK 310 320 330 340 350 360 LLNSDHSALP NQRRSRQWEN RFIALQIKML NTITAMLDCT DRPVLQAIFL NSNCFEHLIR 370 380 390 400 410 420 LLQNCKVFQG QLDCLAISTI QALTAVMNKS PAAKEVFKER IGYTHMLEVL KSLGQPPLEL 430 440 450 460 470 480 LKELMNMAVE GDHTSVGILG ISNVQPLLLL IQWLPELQSH DLQIFISDWL KRICCINRQS 490 500 510 520 530 540 RTTCVNANMG IRIIETLDLH SSLHQTCAEN LIAIHGSLGS QSVSSEEIRR LLRLLRVDES 550 560 570 580 590 600 ESVHPYVTPV TRAILTMARK LSLESALQYF NLSHSMAGIS VPPIQKWPGS AFSFSAWFCL 610 620 630 640 650 660 DQDQLTLGIA NKGGKRKQLY SFFTGSGMGF EAFITHSGML VVAVCTKREY ATVMLPDHSF 670 680 690 700 710 720 CDSLWHNITV VHMPGKRPFG QSFVYIYDNG QQKVSAPLRF PAMNEPFTSC CIGSAGQRTT 730 740 750 760 770 780 TPPPSQIPDP PFSSPITPHR TSFGGILSSA SWGGTIEKSK LITKLISAGT QDSEWGCPTS 790 800 810 820 830 840 LEGQLGSVII FYEPLQPPQV KALYLAGPNC LSPWKCQESD MADLPGNILL YYTAKACKNS 850 860 870 880 890 900 ICLDLSTNCL HGRLTGNKVV NWDIKDIINC IGGLNVLFPL LEQISHFSEG QIPEEKNEST 910 920 930 940 950 960 VPESVTPVEG DWLVWTSTKA SESRLERNLV ATFILIVKHF IQRHPINQGN LIHSHGVATL 970 980 990 1000 1010 1020 GALLQKVPST LMDVNVLMAV QLLIEQVSLE KNMQLLQQMY QYLLFDFRIW NRGDFPFRIG 1030 1040 1050 1060 1070 1080 HIQYLSTIIK DSRRVFRKKY GVQFLLDTLR IYYGNGCKYN ELSLDDIRTI RTSLYGLIKY 1090 1100 1110 1120 1130 1140 FLCKGGSHEE IQSIMGYIAA TNEEEQLFGI LDVLFSLLRT SPTRGQLFLL LFEPGNADIL 1150 1160 1170 1180 1190 1200 YALLLNQKYS DRLREIIFKI MEQMLKCTNV YERSKQHIRL REVGYSGLGL LLNEALVNTS 1210 1220 1230 1240 1250 1260 LIKNLTHQII NTDPVINFKD LLSVVYISHR AHINVRVAIC RKVLQILQFQ PDAAHQISQQ 1270 1280 1290 1300 1310 1320 VGWQDTLVRL FLKAKFENGN TLHKHSRAVL MKDNDKNMST EDTKKNSDEK TDEEKITSFA 1330 1340 1350 1360 1370 1380 SANVSSDQWS LEDRHSLDSN TPLFPEDSSV GELSFKSENQ EEFWHSNPSH LSLDLSGIDS 1390 1400 1410 1420 1430 1440 CEMSDSGSQV PDSLPSTPSP VESTKSFSVH SDRESSITND MGFSDDFSLL ESQERCEEEL 1450 1460 1470 1480 1490 1500 LQLLTHILNY VMCKGLEKSD DDTWIERGQV FSALSKPGIS SELLRPSDEI KLTLLQKMLE 1510 1520 1530 1540 1550 1560 WAISENREAK TNPVTAENAF RLVLIIQDFL QSEGLVNSNM WTEKLLEDMM LLFDCLSVCY 1570 1580 1590 1600 1610 1620 SESPVWVKLS QIQIQLLLGF IGRGNLQVCA MASAKLNTLL QTKVIENQDE ACYILGKLEH 1630 1640 1650 1660 1670 1680 VLSQSIKEQT EIYSFLIPLV RTLVSKIYEL LFMNLHLPSL PFTNGSSSFF EDFQEYCNSN 1690 1700 1710 1720 1730 1740 EWQVYIEKYI VPYMKQYEAH TFYDGHENMA LYWKDCYEAL MVNMHKRDRE GGESKLKFQE 1750 1760 1770 1780 1790 1800 LFVEPFNRKA RQENLRYNNM LKQLSSQQLA TLRRWKAIQL YLTCERGPWA KRKQNPIHWK 1810 1820 1830 1840 1850 1860 LANVENYSRM RLKLVPNYNF KTHEEASALR DNLGIQHSQP SSDTLLLEVV KQVKVSDMVE 1870 1880 1890 1900 1910 1920 DKLDLPEEDI TARVNVDEKE EQDQKEKLVL MEDCELITII DVIPGRLEIT TQHIYFYDGS 1930 1940 1950 1960 1970 1980 IEKEDGVGFD FKWPHSQIRE IHLRRYNLRR SALEIFHVDQ SNYFLNFKKE VRNKIYSRLL 1990 2000 2010 2020 2030 2040 SLHSPNSYYG SRSPQELFKA SGLTQKWVNR EISNFDYLIQ INTMAGRTYN DLAQYPVFPW 2050 2060 2070 2080 2090 2100 ILQDYTSEEL DLNNPAVFRD LSKPIGVVNE KNAKAMREKY ENFEDPMGTI DKFHYGTHYS 2110 2120 2130 2140 2150 2160 NSAGVMHYLI RVEPFTTLHI QLQSGRFDCA DRQFHSIPAT WQALMDNPYD VKELIPEFFY 2170 2180 2190 2200 2210 2220 FPEFLENQNQ FNLGRLQISK ELVNDVILPK WAKSAEDFIY KHRKALESEY VSAHLHEWID 2230 2240 2250 2260 2270 2280 LIFGYKQRGP AAVEALNVFY YCSYEGAVDL DALTDEKERK ALEGMINNFG QTPCQLLKIT 2290 2300 2310 2320 2330 2340 ISMNYVIGTH GWLPYDRNIS NYFTFIKDQT VTNPKTQRSI NGSFAPGLEI TSKLFVVSHD 2350 2360 2370 2380 2390 2400 AKLLFSAGYW DNSIQVMSLT KGKIISHIIR HMDIVTCLAT DYCGIHLISG SRDTTCMIWQ 2410 2420 2430 2440 2450 2460 ITQQGGVPVG LASKPFQILY GHTNEVLSVG ISTELDMAVS GSRDGTVIIH TIPNLAISWE 2470 2480 2490 2500 2510 2520 GHIVVYSSTE EKTTLKDKNA LHLFSINGKY LGSQILKEQV SDICIIGEHI VTGSIQGFLS 2530 2540 2550 2560 2570 2580 IRDLHSLNLS INPLAMRLPI HCVCVTKEYS HILVGLEDGK LIVVGVGKPA EMRSGQLSRK 2590 2600 FWGSSKRLSQ ISAGETEYNT QDSK

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]	"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. , Rouleau G.A., Hayden M.R., Ikeda J.-E. Nat. Genet. 29:166-173(2001) [PubMed: 11586298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-132 AND 2473-2694 (ISOFORM 2).
[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 1268-2694 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 81-366 AND 1692-2694 (ISOFORM 2). Tissue: Brain, Lung and Trachea.
[4]	"Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma." Chen J., Lu Y., Xu J., Huang Y., Cheng H., Hu G., Luo C., Lou M., Cao G., Xie Y., Ying K. Brain Res. Mol. Brain Res. 125:147-155(2004) [PubMed: 15193433] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1588-2694 (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Fetal brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC011737 Genomic DNA. No translation available. AB053318 mRNA. Translation: BAB69026.1. AB053319 mRNA. Translation: BAB69027.1. Sequence problems. AK127772 mRNA. Translation: BAC87125.1. Different initiation. AK128636 mRNA. Translation: BAC87543.1. Different initiation. AK130065 mRNA. Translation: BAC85289.1. Different initiation. AY172970 mRNA. Translation: AAO45288.1. Frameshift.
IPI	IPI00395569. IPI00418653.
RefSeq	NP_001107604.1. NM_001114132.1.
UniGene	Hs.604686. Hs.648846.
3D structure databases
ProteinModelPortal	Q6ZS30.
SMR	Q6ZS30. Positions 1886-2284, 2403-2658.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6ZS30. 3 interactions.
STRING	Q6ZS30.
PTM databases
PhosphoSite	Q6ZS30.
Polymorphism databases
DMDM	298286908.
Proteomic databases
PRIDE	Q6ZS30.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000339968; ENSP00000340572; ENSG00000144426. ENST00000340268; ENSP00000344985; ENSG00000144426.
GeneID	65065.
KEGG	hsa:65065.
UCSC	uc002uzs.2. human. uc002uzt.2. human.
Organism-specific databases
CTD	65065.
GeneCards	GC02P203826.
H-InvDB	HIX0002758.
HGNC	HGNC:20681. NBEAL1.
MIM	609816. gene.
neXtProt	NX_Q6ZS30.
PharmGKB	PA24740.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11362.
GeneTree	ENSGT00600000084267.
InParanoid	Q6ZP36.
OMA	HLAVSWE.
PhylomeDB	Q6ZS30.
Gene expression databases
ArrayExpress	Q6ZS30.
Bgee	Q6ZS30.
CleanEx	HS_NBEAL1.
Genevestigator	Q6ZS30.
Family and domain databases
InterPro	IPR016024. ARM-type_fold. IPR000409. BEACH_dom. IPR008985. ConA-like_lec_gl. IPR023362. PH-BEACH_dom. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view]
Gene3D	G3DSA:1.10.1540.10. Beige_BEACH. 1 hit. G3DSA:2.30.29.40. G3DSA:2.30.29.40. 1 hit. G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
Pfam	PF02138. Beach. 1 hit. PF00400. WD40. 2 hits. [Graphical view]
SMART	SM01026. Beach. 1 hit. SM00320. WD40. 3 hits. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit. SSF81837. Beige_BEACH. 1 hit. SSF49899. ConA_like_lec_gl. 1 hit. SSF50978. WD40_like. 1 hit.
PROSITE	PS50197. BEACH. 1 hit. PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	67254.
SOURCE	Search...

Entry information

Entry name

NBEL1_HUMAN

Accession

Primary (citable) accession number: Q6ZS30
Secondary accession number(s): A6NHD5 , Q6Y876, Q6ZP36, Q6ZQY5, Q8N8R4, Q96Q30, Q96Q31

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2006
Last sequence update:	June 15, 2010
Last modified:	January 25, 2012
This is version 77 of the entry and version 3 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.